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Intellectual disability syndromic and non-syndromic v0.2709 UBE2A Crystle Lee reviewed gene: UBE2A: Rating: GREEN; Mode of pathogenicity: None; Publications: 24053514, 16909393; Phenotypes: Mental retardation, X-linked syndromic, Nascimento-type (MIM#300860); Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Intellectual disability syndromic and non-syndromic v0.2708 HARS Bryony Thompson gene: HARS was added
gene: HARS was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: HARS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HARS were set to 32296180
Phenotypes for gene: HARS were set to multisystem ataxic syndrome; mild-severe intellectual disability
Review for gene: HARS was set to AMBER
Added comment: 3 cases from 2 unrelated families with biallelic variants and mild to severe intellectual disability as a feature of the condition.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.2707 GOLGA2 Zornitza Stark reviewed gene: GOLGA2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Intellectual disability syndromic and non-syndromic v0.2703 GOLGA2 Elena Savva gene: GOLGA2 was added
gene: GOLGA2 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: GOLGA2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GOLGA2 were set to PMID: 30237576; 26742501
Phenotypes for gene: GOLGA2 were set to Neuromuscular disorder
Review for gene: GOLGA2 was set to AMBER
Added comment: PMID: 30237576 - One 11 year old patient with a homozygous PTC.
Patient had global dev delay, microcephaly, distal muscle weakness with joint contractures and elevated CK levels. Muscle biopsy showed dystrophin changes. MRI at 2 years old showed brain atrophy with thin corpus callosum and hypomyelination. No seizures or regression.

PMID: 26742501 - One infant with a homozygous PTC.
Patient had dev delay, seizures, microcephaly and muscular dystrophy. Zebrafish null model recapitulates the human phenotype with microcephaly and skeletal muscle disorganization.

Summary: 2 patients
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.2703 SIL1 Crystle Lee reviewed gene: SIL1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24176978, 16282977; Phenotypes: Marinesco-Sjogren syndrome (MIM#248800); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2703 TANC2 Zornitza Stark Phenotypes for gene: TANC2 were changed from no OMIM number yet; Intellectual disability; autism; epilepsy; dysmorphism to Intellectual disability; autism; epilepsy; dysmorphism; Intellectual developmental disorder with autistic features and language delay, with or without seizures, MIM# 618906
Intellectual disability syndromic and non-syndromic v0.2702 TANC2 Zornitza Stark reviewed gene: TANC2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Intellectual developmental disorder with autistic features and language delay, with or without seizures, MIM# 618906; Mode of inheritance: None
Intellectual disability syndromic and non-syndromic v0.2700 NEXMIF Zornitza Stark Mode of inheritance for gene: NEXMIF was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Intellectual disability syndromic and non-syndromic v0.2699 NEXMIF Zornitza Stark reviewed gene: NEXMIF: Rating: GREEN; Mode of pathogenicity: None; Publications: 27358180; Phenotypes: Mental retardation, X-linked 98 300912; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Intellectual disability syndromic and non-syndromic v0.2698 FBXW11 Zornitza Stark reviewed gene: FBXW11: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental, eye, jaw, and digital syndrome (NDEJD), MIM#618914; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.2698 SCN3A Zornitza Stark Phenotypes for gene: SCN3A were changed from to Epilepsy, familial focal, with variable foci 4, MIM# 617935; Epileptic encephalopathy, early infantile, 62, MIM# 617938; Intellectual disability; Malformations of cortical development
Intellectual disability syndromic and non-syndromic v0.2696 SCN3A Zornitza Stark Mode of pathogenicity for gene: SCN3A was changed from to Other
Intellectual disability syndromic and non-syndromic v0.2694 SCN3A Zornitza Stark reviewed gene: SCN3A: Rating: GREEN; Mode of pathogenicity: Other; Publications: 32515017; Phenotypes: Epilepsy, familial focal, with variable foci 4, MIM# 617935, Epileptic encephalopathy, early infantile, 62, MIM# 617938, Intellectual disability, Malformations of cortical development; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.2691 SLC6A1 Zornitza Stark reviewed gene: SLC6A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 29315614; Phenotypes: Myoclonic-atonic epilepsy, MIM#616421; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.2688 GATM Zornitza Stark reviewed gene: GATM: Rating: GREEN; Mode of pathogenicity: None; Publications: 12468279, 20682460, 22386973; Phenotypes: Cerebral creatine deficiency syndrome 3, MIM# 612718; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2687 PSMB1 Zornitza Stark gene: PSMB1 was added
gene: PSMB1 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: PSMB1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PSMB1 were set to 32129449
Phenotypes for gene: PSMB1 were set to Intellectual disability; microcephaly
Review for gene: PSMB1 was set to AMBER
Added comment: Two siblings reported with a homozygous missense variant in this gene; supportive experimental evidence including zebrafish model.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.2686 C16orf62 Zornitza Stark changed review comment from: HGNC approved name: VPS35L. Two variants have been reported as compound heterozygotes in two sibs with features of 3C/Ritscher-Schinzel syndrome. Functional studies show that loss of VPS35L function results in impared autophagy and VPS35L knockout mouse resulted in early embrionic lethality (PMID 25434475).
Sources: Expert list; to: HGNC approved name: VPS35L. Two variants have been reported as compound heterozygotes in two sibs with features of 3C/Ritscher-Schinzel syndrome. Functional studies show that loss of VPS35L function results in impared autophagy and VPS35L knockout mouse resulted in early embrionic lethality (PMID 25434475;31712251).
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.2684 C16orf62 Zornitza Stark edited their review of gene: C16orf62: Changed publications: 25434475, 31712251
Intellectual disability syndromic and non-syndromic v0.2683 C16orf62 Zornitza Stark gene: C16orf62 was added
gene: C16orf62 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list
Mode of inheritance for gene: C16orf62 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: C16orf62 were set to 25434475
Phenotypes for gene: C16orf62 were set to 3C/Ritscher-Schinzel-like syndrome
Review for gene: C16orf62 was set to AMBER
Added comment: HGNC approved name: VPS35L. Two variants have been reported as compound heterozygotes in two sibs with features of 3C/Ritscher-Schinzel syndrome. Functional studies show that loss of VPS35L function results in impared autophagy and VPS35L knockout mouse resulted in early embrionic lethality (PMID 25434475).
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.2682 PPP1CB Zornitza Stark Phenotypes for gene: PPP1CB were changed from to Noonan syndrome-like disorder with loose anlagen hair 2, OMIM # 617506
Intellectual disability syndromic and non-syndromic v0.2679 PPP1CB Zornitza Stark reviewed gene: PPP1CB: Rating: GREEN; Mode of pathogenicity: None; Publications: 32476286, 28211982, 27264673, 27681385, 27868344; Phenotypes: Noonan syndrome-like disorder with loose anlagen hair 2, OMIM # 617506; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.2679 RBL2 Zornitza Stark gene: RBL2 was added
gene: RBL2 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: RBL2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RBL2 were set to 32105419; 9806916
Phenotypes for gene: RBL2 were set to Intellectual disability
Review for gene: RBL2 was set to RED
Added comment: Single family reported with pair of affected siblings. Supportive mouse model.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.2677 GRM7 Zornitza Stark gene: GRM7 was added
gene: GRM7 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: GRM7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GRM7 were set to 32286009; 32248644
Phenotypes for gene: GRM7 were set to Epilepsy, microcephaly, developmental delay
Review for gene: GRM7 was set to GREEN
Added comment: Eleven individuals from six families reported, three different homozygous variants (two missense, one LoF). Developmental delay, neonatal‐ or infantile‐onset epilepsy, and microcephaly were universal. Supportive mouse model.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.2676 OTUD7A Zornitza Stark Phenotypes for gene: OTUD7A were changed from Epileptic encephalopathy, no OMIM# yet to Epileptic encephalopathy, intellectual disability, no OMIM# yet
Intellectual disability syndromic and non-syndromic v0.2674 OTUD7A Zornitza Stark reviewed gene: OTUD7A: Rating: RED; Mode of pathogenicity: None; Publications: 29395075, 29395074; Phenotypes: ; Mode of inheritance: None
Intellectual disability syndromic and non-syndromic v0.2670 KMT2D Zornitza Stark reviewed gene: KMT2D: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Kabuki syndrome 1, MIM# 147920, KMT2D-associated syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.2670 KMT2D Zornitza Stark Deleted their review
Intellectual disability syndromic and non-syndromic v0.2667 KMT2D Zornitza Stark reviewed gene: KMT2D: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Kabuki syndrome 1, MIM# 147920, KMT2D-associated neurodevelopmental syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.2666 COG4 Zornitza Stark Mode of inheritance for gene: COG4 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2665 COG4 Zornitza Stark Deleted their review
Intellectual disability syndromic and non-syndromic v0.2665 COG4 Zornitza Stark reviewed gene: COG4: Rating: GREEN; Mode of pathogenicity: None; Publications: 31949312, 30290151, 19494034, 21185756; Phenotypes: Saul-Wilson syndrome, OMIM #618150, Congenital disorder of glycosylation, type IIj, OMIM #613489; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2665 DSCR3 Chirag Patel gene: DSCR3 was added
gene: DSCR3 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: DSCR3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DSCR3 were set to PMID: 31845315
Phenotypes for gene: DSCR3 were set to Intellectual disability, no OMIM # yet
Review for gene: DSCR3 was set to RED
Added comment: 1 family/2 cousins with cognitive impairment, growth failure, skeletal abnormalities, and distinctive facial features. Both shared the homozygous nonsense variant c.178G>T (p.Glu60*) in the VPS26C gene. This gene encodes VPS26C, a member of the retriever integral membrane protein recycling pathway. The nature of the variant which is predicted to result in loss‐of‐function, expression studies revealing significant reduction in the mutant transcript, and the co‐segregation of the homozygous variant with the phenotype in two affected individuals.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.2664 OTUD7A Chirag Patel gene: OTUD7A was added
gene: OTUD7A was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: OTUD7A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: OTUD7A were set to PMID: 31997314
Phenotypes for gene: OTUD7A were set to Epileptic encephalopathy, no OMIM# yet
Review for gene: OTUD7A was set to RED
Added comment: One patient with severe global developmental delay, language impairment and epileptic encephalopathy. Homozygous OTUD7A missense variant (c.697C>T, p.Leu233Phe), predicted to alter an ultraconserved amino acid, lying within the OTU catalytic domain. Its subsequent segregation analysis revealed that the parents, presenting with learning disability, and brother were heterozygous carriers. Biochemical assays demonstrated that proteasome complex formation and function were significantly reduced in patient‐derived fibroblasts and in OTUD7A knockout HAP1 cell line. We provide evidence that biallelic pathogenic OTUD7A variation is linked to early‐onset epileptic encephalopathy and proteasome dysfunction. Gene lies in the chromosome 15q13.3 region. Heterozygous microdeletions of chromosome 15q13.3 show incomplete penetrance and are associated with a highly variable phenotype that may include intellectual disability, epilepsy, facial dysmorphism and digit anomalies.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.2663 GATAD2B Chirag Patel reviewed gene: GATAD2B: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 31949314; Phenotypes: Mental retardation, autosomal dominant 18, OMIM # 615074; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.2663 KMT2D Chirag Patel changed review comment from: KMT2D missense variants located in a specific region spanning exons 38 and 39 and affecting highly conserved residues cause a novel multiple malformations syndrome distinct from Kabuki syndrome, through a dominant negative mechanism.; to: KMT2D missense variants located in a specific region spanning exons 38 and 39 and affecting highly conserved residues cause a novel multiple malformations syndrome distinct from Kabuki syndrome, through a dominant negative mechanism.
- 7 unrelated families with choanal atresia, athelia or hypoplastic nipples, branchial sinus abnormalities, neck pits, lacrimal duct anomalies, hearing loss, external ear malformations, and thyroid abnormalities. None of the individuals had intellectual disability.
Intellectual disability syndromic and non-syndromic v0.2663 KMT2D Chirag Patel reviewed gene: KMT2D: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 31949313; Phenotypes: ; Mode of inheritance: None
Intellectual disability syndromic and non-syndromic v0.2663 COG4 Chirag Patel reviewed gene: COG4: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 31949312, 30290151; Phenotypes: Saul-Wilson syndrome, OMIM #618150, Congenital disorder of glycosylation, type IIj, OMIM #613489; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2660 ARL13B Zornitza Stark reviewed gene: ARL13B: Rating: GREEN; Mode of pathogenicity: None; Publications: 18674751, 25138100, 26092869, 27894351, 29255182, 17488627; Phenotypes: Joubert syndrome 8, MIM# 612291; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2659 TTC5 Konstantinos Varvagiannis gene: TTC5 was added
gene: TTC5 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: TTC5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TTC5 were set to 29302074; 32439809
Phenotypes for gene: TTC5 were set to Central hypotonia; Global developmental delay; Intellectual disability; Abnormality of nervous system morphology; Microcephaly; Abnormality of the face; Behavioral abnormality; Abnormality of the genitourinary system
Penetrance for gene: TTC5 were set to Complete
Review for gene: TTC5 was set to GREEN
Added comment: Hu et al (2019 - PMID: 29302074) reported briefly on 3 individuals from 2 consanguineous families (from Turkey and Iran) with biallelic TTC5 variants. Features included DD (3/3), ID (severe in 2/2 with relevant age), microcephaly (3/3), brain abnormalities, etc. A nonsense and a variant affecting splice site were identified by WES/WGS.

---

In a recent report, Rasheed et al (2020 - PMID: 32439809) report on the phenotype of 8 individuals - belonging to 5 consanguineous families - all 8 harboring homozygous TTC5 mutations.

Frequent features included hypotonia (6/8), motor and speech delay, moderate to severe ID (10/10 of relevant age - inclusion of less severely affected subjects was not considered by study design), brain MRI abnormalities (8/8). Other findings included microcephaly in some (6/11), behavioral abnormalities in few (autistic behavior in 2/8, aggression in 2/8), genitourinary anomalies (2/8), seizures (1/11). Facial phenotype incl. thin V-shaped upper lip, low-set ears (in most) and/or additional features.

TTC5 encodes a 440 aa protein, functioning as a scaffold to stabilise p300-JMY interactions. Apart from this role in nucleus, it has functions in the cytoplasm (inhibiting actin nucleataion, autophagosome formation, etc).

The gene has ubiquitous expression, highest in brain.

All variants were identified following WES - as the best candidates - in affected individuals with compatible Sanger studies in all affected family members and carrier parents.

2 missense and 2 nonsense variants were identified with the 2 missense SNVs localizing within TPR domains. qRT-PCR studies for a nonsense variant localizing 19 nt before the last exon, revealed fourfold decreased expression in affected individuals compared to carriers.

Families from Egypt shared a homozygous ~6.3 Mb haplotype block spanning TTC5, suggesting that p.(Arg263Ter) is likely a founder mutation.

The authors underscore some phenotypic (though not facial) similarities with Rubinstein-Taybi syndrome 2 due to EP300 mutations (in line with the role of TTC5).

Biallelic variants in genes encoding other members of the TTC family (containing a TPR motif), e.g. TTC8 or TTC15 cause disorders with neurologic manifestations (and DD/ID).
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.2658 SOX6 Paul De Fazio changed review comment from: 6 LoF, 4 missense, and 6 intragenic deletion variants identified in individuals with a neurodevelopmental syndrome, however the number of families is unclear to me (paper says 19 individuals from 17 families). 12 were de novo.
Sources: Literature; to: 6 LoF, 4 missense, and 6 intragenic deletion variants identified in individuals with a neurodevelopmental syndrome. Paper says 19 individuals from 17 families. 12 were de novo.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.2658 SOX6 Paul De Fazio changed review comment from: 6 LoF, 4 missense, and 6 intragenic deletion variants identified in individuals with a neurodevelopmental syndrome, however the number of families is unclear to me.
Sources: Literature; to: 6 LoF, 4 missense, and 6 intragenic deletion variants identified in individuals with a neurodevelopmental syndrome, however the number of families is unclear to me (paper says 19 individuals from 17 families). 12 were de novo.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.2658 SOX6 Paul De Fazio gene: SOX6 was added
gene: SOX6 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: SOX6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SOX6 were set to 32442410
Phenotypes for gene: SOX6 were set to ADHD; Craniosynostosis; Osteochondromas
Review for gene: SOX6 was set to GREEN
Added comment: 6 LoF, 4 missense, and 6 intragenic deletion variants identified in individuals with a neurodevelopmental syndrome, however the number of families is unclear to me.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.2657 HIST1H4J Sue White gene: HIST1H4J was added
gene: HIST1H4J was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: HIST1H4J was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: HIST1H4J were set to 31804630
Phenotypes for gene: HIST1H4J were set to microcephaly; intellectual disability; dysmorphic features
Penetrance for gene: HIST1H4J were set to Complete
Review for gene: HIST1H4J was set to AMBER
Added comment: single case report but with functional evidence in zebrafish and phenotypic similarity to other HIST1H4C phenotype
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.2652 RBM10 Michelle Torres reviewed gene: RBM10: Rating: GREEN; Mode of pathogenicity: None; Publications: 24259342, 24000153, 30462380; Phenotypes: TARP syndrome, 311900 (3), X-linked recessive; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes
Intellectual disability syndromic and non-syndromic v0.2649 DHX30 Zornitza Stark Phenotypes for gene: DHX30 were changed from to Neurodevelopmental disorder with severe motor impairment and absent language, MIM#617804
Intellectual disability syndromic and non-syndromic v0.2646 DHX30 Zornitza Stark reviewed gene: DHX30: Rating: GREEN; Mode of pathogenicity: None; Publications: 29100085; Phenotypes: Neurodevelopmental disorder with severe motor impairment and absent language, MIM#617804; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.2641 TRIP12 Chern Lim reviewed gene: TRIP12: Rating: GREEN; Mode of pathogenicity: None; Publications: 27848077, 28251352; Phenotypes: Mental retardation autosomal dominant 49, Clark-Baraitser Syndrome, MIM#617752; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Intellectual disability syndromic and non-syndromic v0.2640 B9D1 Zornitza Stark changed review comment from: Two unrelated individuals with JS and bi-allelic variants in this gene, plus one individual with a more severe Meckel phenotype described. Intellectual disability is part of the phenotype.; to: Two unrelated individuals with JS and bi-allelic variants in this gene, plus one individual with a more severe Meckel phenotype described. Intellectual disability is part of the phenotype. However note that in Meckel individual one of the variants identified is a multi-gene deletion and in addition a likely path CEP290 variant also reported.
Intellectual disability syndromic and non-syndromic v0.2640 B9D1 Zornitza Stark edited their review of gene: B9D1: Changed rating: AMBER
Intellectual disability syndromic and non-syndromic v0.2637 PACS1 Zornitza Stark reviewed gene: PACS1: Rating: GREEN; Mode of pathogenicity: None; Publications: 26842493, 23159249; Phenotypes: Schuurs-Hoeijmakers syndrome (MIM# 615009); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.2635 IQSEC3 Elena Savva reviewed gene: IQSEC3: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 32049026, 31130284, 31680123; Phenotypes: Intellectual disability, Fetal akinesia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2632 PRKD1 Zornitza Stark reviewed gene: PRKD1: Rating: GREEN; Mode of pathogenicity: None; Publications: 27479907; Phenotypes: Congenital heart defects and ectodermal dysplasia, 617364; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.2631 NR4A2 Konstantinos Varvagiannis reviewed gene: NR4A2: Rating: GREEN; Mode of pathogenicity: None; Publications: https://doi.org/10.1038/s41436-020-0815-4, 31428396, 29770430, 30504930, 28544326, 27569545, 23554088, 28135719, 27479843, 25363768; Phenotypes: Generalized hypotonia, Global developmental delay, Intellectual disability, Seizures, Behavioral abnormality, Abnormality of movement, Joint hypermobility; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Intellectual disability syndromic and non-syndromic v0.2631 CUL3 Zornitza Stark Phenotypes for gene: CUL3 were changed from Global developmental delay; Intellectual disability; Seizures; Abnormality of cardiovascular system morphology; Abnormality of the palate; Pseudohypoaldosteronism, type IIE - MIM #614496 to Global developmental delay; Intellectual disability; Seizures; Abnormality of cardiovascular system morphology; Abnormality of the palate
Intellectual disability syndromic and non-syndromic v0.2629 CUL3 Konstantinos Varvagiannis gene: CUL3 was added
gene: CUL3 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: CUL3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CUL3 were set to 32341456
Phenotypes for gene: CUL3 were set to Global developmental delay; Intellectual disability; Seizures; Abnormality of cardiovascular system morphology; Abnormality of the palate; Pseudohypoaldosteronism, type IIE - MIM #614496
Penetrance for gene: CUL3 were set to unknown
Review for gene: CUL3 was set to GREEN
Added comment: Please consider inclusion with amber / green rating.
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Nakashima et al (2020 - PMID:32341456) provide clinical details on 3 unrelated individuals with de novo CUL3 variants.

Features included DD, variable degrees of ID (P1: severe, P3: mild, P2: NA although he displayed motor and severe speech and language delay and had severe learning difficulties). Two out of three had intractable seizures (onset 2 - 6 months). One presented with congenital heart defects (ASD, PV stenosis) and another submucosal palatoschisis/bifid uvula. There were no facial dysmorphisms reported.

CUL3 encodes Cullin-3, a core piece of the E3 ubiquitin ligase complex, thus playing a role in the ubiquitin-proteasome system. [ https://ghr.nlm.nih.gov/gene/CUL3 ]. Germline variants in some other Cullin family genes (eg. CUL4B, CUL7) cause disorders with ID as a feature.

The 3 individuals reported by Nakashima had variable previous investigations (karyotype, CMA, metabolic testing) which were non-diagnostic. Singleton or trio exome sequencing identified 2 frameshift and 1 missense variant (NM_003590.4:c.854T>C / p.Val285Ala), further confirmed with Sanger sequencing. De novo occurrence was confirmed by analysis of microsatellite markers in an individual with singleton ES.

While the frameshift variants were presumed to lead to NMD (not studied), studies in HEK293T cells suggested that the Val285Ala reduced binding ability with KEAP1, possibly leading to instability of the Cullin-RING ligase (CRL) complex and impairment of the ubiquitin-proteasome system.

In OMIM, the phenotype associated with heterozygous CUL3 mutations is Pseudohypoaldosteronism type IIE (PHA2E - # 614496). As OMIM and Nakashima et al comment, PHA2E-associated variants are clustered around exon 9, most lead to skipping of exon 9 and produce an in-frame deletion of 57 aa in the cullin homology domain. Few (probably 3) missense variants in exon 9 have also been reported. Individuals with PHA2E do not display DD/ID and conversely individuals with NDD did not display features of PHA2E.

Nakashima et al summarize the phenotypes associated with 12 further de novo CUL3 variants in the literature with most pLOF ones detected in individuals with autism and/or developmental disorders and in few cases with congenital heart disease. Few additional missense variants and a stoploss one have been reported in individuals with NDD and one in SCZ.

Heterozygous Cul3 (/tissue-specific) deletion in mice resulted in autism-like behavior. Cul3 deficient mice also demonstrated NMDAR hypofunction and decreased spine density. [PMIDs cited : 31455858, 31780330]

Overall haploinsufficiency is favored as the underlying mechanism of variants associated with NDD. Nakashima et al comment that the pathogenesis of missense variants remains unknown and/or that a dominant-negative effect on CRL may be possible.

Studies on larger cohorts reporting on individuals with relevant phenotypes due to de novo CUL3 variants (eg. DDD study - PMID: 28135719, Lelieveld et al - PMID: 27479843), are summarized in denovo-db (after filtering for coding variants):

http://denovo-db.gs.washington.edu/denovo-db/QueryVariantServlet?searchBy=Gene&target=cul3

Overall, this gene can be considered for inclusion in the ID (amber/green), epilepsy (amber) and/or ASD panels.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.2629 ADAM22 Zornitza Stark gene: ADAM22 was added
gene: ADAM22 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review
Mode of inheritance for gene: ADAM22 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ADAM22 were set to 27066583; 30237576
Phenotypes for gene: ADAM22 were set to Epileptic encephalopathy, early infantile, 61, MIM# 617933
Review for gene: ADAM22 was set to AMBER
Added comment: Two families reported; the second one as part of a large consanguineous cohort.
Sources: Expert Review
Intellectual disability syndromic and non-syndromic v0.2627 UGDH Konstantinos Varvagiannis gene: UGDH was added
gene: UGDH was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: UGDH was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: UGDH were set to 32001716
Phenotypes for gene: UGDH were set to Epileptic encephalopathy, early infantile, 84 - MIM #618792
Penetrance for gene: UGDH were set to Complete
Review for gene: UGDH was set to GREEN
Added comment: Hengel et al (2020 - PMID: 32001716) report on 36 individuals with biallelic UGDH pathogenic variants.

The phenotype corresponded overall to a developmental epileptic encephalopathy with hypotonia, feeding difficulties, severe global DD, moderate or commonly severe ID in all. Hypotonia and motor disorder (incl. spasticity, dystonia, ataxia, chorea, etc) often occurred prior to the onset of seizures. A single individual did not present seizures and 2 sibs had only seizures in the setting of fever.

Affected subjects were tested by exome sequencing and UGDH variants were the only/best candidates for the phenotype following also segregation studies. Many were compound heterozygous or homozygous (~6 families were consanguineous) for missense variants and few were compound heterozygous for missense and pLoF variants. There were no individuals with biallelic pLoF variants identified. Parental/sib studies were all compatible with AR inheritance mode.

UGDH encodes the enzyme UDP-glucose dehydrogenase which converts UDP-glucose to UDP-glucuronate, the latter being a critical component of the glycosaminoglycans, hyaluronan, chondroitin sulfate, and heparan sulfate [OMIM].

Patient fibroblast and biochemical assays suggested a LoF effect of variants leading to impairment of UGDH stability, oligomerization or enzymatic activity (decreased UGDH-catalyzed reduction of NAD+ to NADH / hyaluronic acid production which requires UDP-glucuronate).

Attempts to model the disorder using an already developped zebrafish model (for a hypomorphic LoF allele) were unsuccessful as fish did not exhibit seizures spontaneously or upon induction with PTZ.

Modelling of the disorder in vitro using patient-derived cerebral organoids demonstrated smaller organoids due to reduced number of proliferating neural progenitors.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.2625 YIF1B Konstantinos Varvagiannis gene: YIF1B was added
gene: YIF1B was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: YIF1B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: YIF1B were set to 32006098
Phenotypes for gene: YIF1B were set to Central hypotonia; Failure to thrive; Microcephaly; Global developmental delay; Intellectual disability; Seizures; Spasticity; Abnormality of movement
Penetrance for gene: YIF1B were set to Complete
Review for gene: YIF1B was set to GREEN
Added comment: AlMuhaizea et al (2020 - PMID: 32006098) report on the phenotype of 6 individuals (from 5 families) with biallelic YIF1B truncating variants.

Affected subjects presented hypotonia, failure to thrive, microcephaly (5/6), severe global DD and ID (as evident from best motor/language milestones achieved - Table S1) as well as features suggestive of a motor disorder (dystonia/spasticity/dyskinesia). Seizures were reported in 2 unrelated individuals (2/6). MRI abnormalities were observed in some with thin CC being a feature in 3.

Variable initial investigations were performed including SNP CMA, MECP2, microcephaly / neurotransmitter disorders gene panel testing did not reveal P/LP variants.

YIF1B variants were identified in 3 families within ROH. Following exome sequencing, affected individuals were found to be homozygous for truncating variants (4/5 families being consanguineous). The following 3 variants were identified (NM_001039672.2) : c.186dupT or p.Ala64fs / c.360_361insACAT or p.Gly121fs / c.598G>T or p.Glu200*.

YIF1B encodes an intracellular transmembrane protein.

It has been previously demonstrated that - similarly to other proteins of the Yip family being implicated in intracellular traffic between the Golgi - Yif1B is involved in the anterograde traffic pathway. Yif1B KO mice demonstrate a disorganized Golgi architecture in pyramidal hippocampal neurons (Alterio et al 2015 - PMID: 26077767). The rat ortholog interacts with serotonin receptor 1 (5-HT1AR) with colocalization of Yif1BB and 5-HT1AR in intermediate compartment vesicles and involvement of the former in intracellular trafficing/modulation of 5-HT1AR transport to dendrites (PMID cited: 18685031).

Available mRNA and protein expression data (Protein Atlas) suggest that the gene is widely expressed in all tissues incl. neuronal cells. Immunochemistry data from the Human Brain Atlas also suggest that YIF1B is found in vesicles and localized to the Golgi apparatus. Immunohistochemistry in normal human brain tissue (cerebral cortex) demonstrated labeling of neuronal cells (Human Protein Atlas).

Functional/network analysis of genes co-regulated with YIF1B based on available RNAseq data, suggest enrichement in in genes important for nervous system development and function.

Please consider inclusion in other panels that may be relevant (e.g. microcephaly, etc).
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.2625 SPTBN4 Konstantinos Varvagiannis reviewed gene: SPTBN4: Rating: GREEN; Mode of pathogenicity: None; Publications: 28540413, 28940097, 29861105, 31230720, 31857255; Phenotypes: Neurodevelopmental disorder with hypotonia, neuropathy, and deafness MIM#617519; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2619 TNRC6B Konstantinos Varvagiannis reviewed gene: TNRC6B: Rating: GREEN; Mode of pathogenicity: None; Publications: 32152250, 28135719, 25363768, 27479843, 28959963, 25228304; Phenotypes: Global developmental delay, Intellectual disability, Autistic behavior; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Intellectual disability syndromic and non-syndromic v0.2619 CDC42BPB Konstantinos Varvagiannis gene: CDC42BPB was added
gene: CDC42BPB was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: CDC42BPB was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CDC42BPB were set to 32031333
Phenotypes for gene: CDC42BPB were set to Central hypotonia; Global developmental delay; Intellectual disability; Seizures; Autistic behavior; Behavioral abnormality
Penetrance for gene: CDC42BPB were set to unknown
Review for gene: CDC42BPB was set to GREEN
Added comment: Chilton et al (2020 - PMID: 32031333) report on 14 individuals with missense and loss-of-function CDC42BPB variants.

Features included hypotonia (8/11), DD (12/13 - the 14th was a fetus), ID (7/13), ASD (8/12), clinical seizures (in 3 - a 4th had abnormal EEG without seizures), behavioral abnormalities. Variable non-specific dysmorphic features were reported in some (sparse hair being the most frequent - 4/8). Additional features were observed in few (=<4) incl. cryptorchidism, ophthalmological issues, constipation, kidney abnormalities, micropenis, etc.

All individuals had non-diagnostic prior genetic testing (incl. CMA, FMR1, MECP2, Angelman/Prader-Willi methylation studies, autism gene panel - suggesting relevance to the current panel) or metabolic testing.

Variants were identified following clinical exome sequencing with Sanger confirmation. Most occurred as de novo events (11/14) while inheritance was not available for few (3/14). Missense variants did not display (particular) clustering.

Almost all variants were absent from gnomAD and were predicted to be deleterious in silico (among others almost all had CADD scores >25).

As the authors comment, CDC42BPB encodes myotonic dystrophy-related Cdc42-binding kinase β (MRCKβ) a serine/threonine protein kinase playing a role in regulation of cytoskeletal reorganization and cell migration in nonmuscle cells (through phosporylation of MLC2).

Previous studies have demonstrated that it is ubiquitously expressed with prenatal brain expression.

The gene appears to be intolerant to pLoF (pLI of 1) as well as to missense variants (Z-score of 3.66).

CDC42BPB is a downstream effector of CDC42. Mutations of the latter cause Takenouchi-Kosaki syndrome with DD/ID and some further overlapping features (with CDC42BPB-associated phenotypes).

Homozygous Cdc42bpb KO in mouse appears to be nonviable (MGI:2136459). Loss of gek in the eyes of Drosophila results in disrupted growth cone targeting to the lamina (gek is the fly CDC42BPB ortholog).

Please consider inclusion with amber / green rating in the ID panel (>=4 relevant individuals / variants) and other panels (e.g. for epilepsy, ASD).
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.2615 ARMC9 Zornitza Stark reviewed gene: ARMC9: Rating: GREEN; Mode of pathogenicity: None; Publications: 28625504; Phenotypes: Joubert syndrome 30, MIM# 617622; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2615 DARS Zornitza Stark Phenotypes for gene: DARS were changed from to Hypomyelination with brainstem and spinal cord involvement and leg spasticity, MIM# 615281
Intellectual disability syndromic and non-syndromic v0.2612 DARS Zornitza Stark reviewed gene: DARS: Rating: GREEN; Mode of pathogenicity: None; Publications: 25527264, 23643384; Phenotypes: Hypomyelination with brainstem and spinal cord involvement and leg spasticity, MIM# 615281; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2609 ARID1B Teresa Zhao reviewed gene: ARID1B: Rating: GREEN; Mode of pathogenicity: None; Publications: 25674384, 30349098, 26506440; Phenotypes: Coffin-Siris syndrome 1, MIM 135900; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Intellectual disability syndromic and non-syndromic v0.2605 EMX2 Zornitza Stark reviewed gene: EMX2: Rating: AMBER; Mode of pathogenicity: None; Publications: 8528262, 9359037, 9153481, 9153481, 18409201; Phenotypes: Schizencephaly, MIM# 269160; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.2605 ATAD3A Zornitza Stark Phenotypes for gene: ATAD3A were changed from Harel-Yoon syndrome, MIM# 617183 to Harel-Yoon syndrome, MIM# 617183; Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal (PHRINL SYNDROME) 618810
Intellectual disability syndromic and non-syndromic v0.2603 ATAD3A Zornitza Stark Mode of pathogenicity for gene: ATAD3A was changed from to Other
Intellectual disability syndromic and non-syndromic v0.2602 ATAD3A Zornitza Stark edited their review of gene: ATAD3A: Added comment: Note mode of pathogenicity includes:
i) bi-allelic missense and nonsense variants and bi-allelic deletions that create an ATAD3B/ATAD3A fusion gene under the lowly expressed ATAD3B promoter
ii) monoallelic dominant-negative missense variants (either de novo or inherited) and de novo monoallelic duplications creating a dominant negative ATAD3A/ATAD3C fusion gene; Changed publications: 27640307, 32004445, 28549128; Changed phenotypes: Harel-Yoon syndrome, MIM# 617183, Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal (PHRINL SYNDROME) 618810
Intellectual disability syndromic and non-syndromic v0.2600 MN1 Zornitza Stark edited their review of gene: MN1: Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.2599 VPS51 Zornitza Stark gene: VPS51 was added
gene: VPS51 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list
Mode of inheritance for gene: VPS51 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: VPS51 were set to 30624672; 31207318
Phenotypes for gene: VPS51 were set to Pontocerebellar hypoplasia, type 13, MIM# 618606
Review for gene: VPS51 was set to AMBER
Added comment: Two families reported with bi-allelic variants in this gene and global developmental delay, impaired intellectual development with absent speech, microcephaly, and progressive atrophy of the cerebellar vermis and brainstem. Additional features, including seizures and visual impairment, are variable.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.2598 MN1 Chern Lim reviewed gene: MN1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: CEBALID syndrome, MIM#618774; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.2597 CDK19 Zornitza Stark gene: CDK19 was added
gene: CDK19 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: CDK19 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CDK19 were set to 32330417
Phenotypes for gene: CDK19 were set to Intellectual disability; epileptic encephalopathy
Review for gene: CDK19 was set to GREEN
Added comment: Three unrelated individuals with de novo missense variants reported, and intellectual disability/epileptic encephalopathy. Supportive functional data.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.2593 PTPN23 Zornitza Stark reviewed gene: PTPN23: Rating: GREEN; Mode of pathogenicity: None; Publications: 31395947; Phenotypes: Intellectual disability, brain abnormalities, seizures, optic atrophy, microcephaly; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2593 PHF21A Zornitza Stark Phenotypes for gene: PHF21A were changed from no OMIM number yet. to Intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures, MIM# 618725
Intellectual disability syndromic and non-syndromic v0.2592 PHF21A Zornitza Stark edited their review of gene: PHF21A: Changed rating: GREEN
Intellectual disability syndromic and non-syndromic v0.2592 PHF21A Zornitza Stark reviewed gene: PHF21A: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: Intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures 618725; Mode of inheritance: None
Intellectual disability syndromic and non-syndromic v0.2592 CYFIP2 Zornitza Stark Phenotypes for gene: CYFIP2 were changed from Epileptic encephalopathy, early infantile, 65, MIM#618008 to Epileptic encephalopathy, early infantile, 65, MIM#618008; Intellectual disability
Intellectual disability syndromic and non-syndromic v0.2590 CYFIP2 Zornitza Stark edited their review of gene: CYFIP2: Added comment: Further 12 independent patients with a variety of de novo variants in CYFIP2 reported with eight distinct de novo variants and a shared phenotype of intellectual disability, seizures, and muscular hypotonia. Seven different missense variants detected, of which two occurred recurrently (p.(Arg87Cys) and p.(Ile664Met)). Preliminary genotype–phenotype correlation indicates a profound phenotype in p.Arg87 substitutions and a more variable phenotype in other alterations.; Changed publications: 29534297, 30664714; Changed phenotypes: Epileptic encephalopathy, early infantile, 65, MIM#618008, Intellectual disability
Intellectual disability syndromic and non-syndromic v0.2589 CEP55 Zornitza Stark gene: CEP55 was added
gene: CEP55 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: CEP55 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CEP55 were set to 32100459
Phenotypes for gene: CEP55 were set to Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly, MIM# 236500; Microcephaly; Intellectual disability
Review for gene: CEP55 was set to GREEN
Added comment: Homozygous nonsense variants in CEP55 are associated with a lethal condition characterized by multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly (MARCH syndrome) also known as Meckel-like syndrome. New report of seven living individuals from five families with biallelic CEP55 variants. Four unrelated individuals with microcephaly, speech delays, and bilateral toe syndactyly all had a common CEP55 variant c.70G>A p.(Glu24Lys) in trans with nonsense variants. Three siblings were homozygous for a consensus splice site variant near the end of the gene. These affected girls all had severely delayed development, microcephaly, and varying degrees of lissencephaly/pachygyria. This series suggests that individuals with compound heterozygosity for nonsense and missense variants in CEP55 have a different viable phenotype.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.2587 LRRC32 Zornitza Stark gene: LRRC32 was added
gene: LRRC32 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: LRRC32 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LRRC32 were set to 30976112
Phenotypes for gene: LRRC32 were set to Intellectual disability; cleft palate; proliferative retinopathy
Review for gene: LRRC32 was set to AMBER
Added comment: Three individuals from two consanguineous families segregated the same homozygous bi-allelic variant, c.1630C>T; p.(Arg544Ter), shared haplotype indicative of founder effect. Mouse model has cleft palate and neonatal death.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.2586 NTNG2 Zornitza Stark edited their review of gene: NTNG2: Changed phenotypes: Intellectual disability, autism, dysmorphic features, Neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia, MIM# 618718
Intellectual disability syndromic and non-syndromic v0.2585 NTNG2 Zornitza Stark edited their review of gene: NTNG2: Added comment: Two more families reported, phenotype described as Rett-like. Both families had same homozygous frameshift mutation (chr9:135073515, c.376dupT, p.(Ser126PhefsTer241).; Changed publications: 31668703, 31692205
Intellectual disability syndromic and non-syndromic v0.2582 TAF1 Zornitza Stark reviewed gene: TAF1: Rating: GREEN; Mode of pathogenicity: None; Publications: 31646703; Phenotypes: Mental retardation, X-linked, syndromic 33, MIM# 300966; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Intellectual disability syndromic and non-syndromic v0.2582 KCNB1 Zornitza Stark Phenotypes for gene: KCNB1 were changed from to Epileptic encephalopathy, early infantile, 26, MIM# 616056
Intellectual disability syndromic and non-syndromic v0.2579 KCNB1 Zornitza Stark reviewed gene: KCNB1: Rating: GREEN; Mode of pathogenicity: None; Publications: 31600826, 31513310; Phenotypes: Epileptic encephalopathy, early infantile, 26, MIM# 616056; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.2578 RSRC1 Zornitza Stark edited their review of gene: RSRC1: Added comment: 2020: 17 additional individuals reported.; Changed rating: GREEN; Changed publications: 28640246, 29522154, 32227164; Changed phenotypes: Intellectual developmental disorder, autosomal recessive 70, MIM# 618402
Intellectual disability syndromic and non-syndromic v0.2577 GAD1 Zornitza Stark Phenotypes for gene: GAD1 were changed from Cerebral palsy, spastic quadriplegic, 1, MIM#603513 to Cerebral palsy, spastic quadriplegic, 1, MIM#603513; Developmental and epileptic encephalopathy
Intellectual disability syndromic and non-syndromic v0.2575 GAD1 Zornitza Stark changed review comment from: Single family reported with bi-allelic variants. Association studies linking with neuropsychiatric issues.; to: Single family reported with bi-allelic variants and CP phenotype. Association studies linking with neuropsychiatric issues.
Intellectual disability syndromic and non-syndromic v0.2575 GAD1 Zornitza Stark edited their review of gene: GAD1: Changed rating: GREEN
Intellectual disability syndromic and non-syndromic v0.2575 GAD1 Zornitza Stark edited their review of gene: GAD1: Added comment: 2020: 11 individuals from 6 consanguineous families reported with bi-allelic LOF variant and a developmental/epileptic encephalopathy. Seizure onset occurred in the first 2 months of life in all. All 10 individuals, from whom early disease history was available, presented with seizure onset in the first month of life, mainly consisting of epileptic spasms or myoclonic seizures. Early EEG showed suppression-burst or pattern of burst attenuation or hypsarrhythmia if only recorded in the post-neonatal period. Eight individuals had joint contractures and/or pes equinovarus. Seven presented a cleft palate and two also had an omphalocele, reproducing the phenotype of the knockout Gad1−/− mouse model. Four individuals died before 4 years of age.; Changed publications: 15571623, 32282878; Changed phenotypes: Cerebral palsy, spastic quadriplegic, 1, MIM#603513, Developmental and epileptic encephalopathy
Intellectual disability syndromic and non-syndromic v0.2574 GALNT2 Zornitza Stark gene: GALNT2 was added
gene: GALNT2 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: GALNT2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GALNT2 were set to 32293671
Phenotypes for gene: GALNT2 were set to Congenital disorder of glycosylation
Review for gene: GALNT2 was set to GREEN
Added comment: Seven individuals from four families reported with bi-allelic LOF variants and global developmental delay, intellectual disability with language deficit, autistic features, behavioural abnormalities, epilepsy, chronic insomnia, white matter changes on brain MRI, dysmorphic features, decreased stature, and decreased high density lipoprotein cholesterol levels. Rodent (mouse and rat) models of GALNT2-CDG recapitulated much of the human phenotype, including poor growth and neurodevelopmental abnormalities.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.2570 PLPBP Zornitza Stark reviewed gene: PLPBP: Rating: GREEN; Mode of pathogenicity: None; Publications: 27912044, 31741821, 30668673; Phenotypes: Epilepsy, early-onset, vitamin B6-dependent, MIM# 617290; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2570 GRIN2A Zornitza Stark Phenotypes for gene: GRIN2A were changed from to Epilepsy, focal, with speech disorder and with or without mental retardation, MIM# 245570
Intellectual disability syndromic and non-syndromic v0.2568 GRIN2A Zornitza Stark Mode of pathogenicity for gene: GRIN2A was changed from to Other
Intellectual disability syndromic and non-syndromic v0.2566 GRIN2A Zornitza Stark reviewed gene: GRIN2A: Rating: GREEN; Mode of pathogenicity: Other; Publications: 30544257; Phenotypes: Epilepsy, focal, with speech disorder and with or without mental retardation, MIM# 245570; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.2562 TSEN34 Zornitza Stark reviewed gene: TSEN34: Rating: RED; Mode of pathogenicity: None; Publications: 18711368; Phenotypes: Pontocerebellar hypoplasia type 2C, MIM# 612390; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2558 CHD4 Zornitza Stark reviewed gene: CHD4: Rating: GREEN; Mode of pathogenicity: None; Publications: 31388190; Phenotypes: Sifrim-Hitz-Weiss syndrome, MIM 617159; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.2556 TLK2 Zornitza Stark Mode of inheritance for gene: TLK2 was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2555 TLK2 Zornitza Stark reviewed gene: TLK2: Rating: GREEN; Mode of pathogenicity: None; Publications: 29861108, 29942082, 27479843, 23911319, 30559488, 29942082, 31558842; Phenotypes: Intellectual disability, MIM 618050, Neurodevelopmental disease; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2552 DYRK1A Zornitza Stark Deleted their review
Intellectual disability syndromic and non-syndromic v0.2552 DYRK1A Zornitza Stark reviewed gene: DYRK1A: Rating: GREEN; Mode of pathogenicity: None; Publications: 25707398, 31263215; Phenotypes: Mental retardation, autosomal dominant 7 (MIM#614104); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.2552 GABRA1 Zornitza Stark Phenotypes for gene: GABRA1 were changed from to Epileptic encephalopathy, early infantile, 19 615744; Rett syndrome; Rett-like phenotypes; idiopathic generalized Epilepsy; Dravet syndrome
Intellectual disability syndromic and non-syndromic v0.2549 GABRA1 Zornitza Stark reviewed gene: GABRA1: Rating: GREEN; Mode of pathogenicity: None; Publications: 11992121, 21714819, 24623842, 30842224; Phenotypes: Epileptic encephalopathy, early infantile, 19 615744, Rett syndrome, Rett-like phenotypes, idiopathic generalized Epilepsy, Dravet syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.2548 GNAI2 Zornitza Stark changed review comment from: Single individual with de novo variant reported.
Sources: Literature; to: Two individuals reported, some functional data.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.2548 GNAI2 Zornitza Stark edited their review of gene: GNAI2: Changed rating: AMBER; Changed publications: 31036916, 27787898
Intellectual disability syndromic and non-syndromic v0.2548 GNAI2 Zornitza Stark gene: GNAI2 was added
gene: GNAI2 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: GNAI2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: GNAI2 were set to 31036916
Phenotypes for gene: GNAI2 were set to Syndromic intellectual disability
Review for gene: GNAI2 was set to RED
Added comment: Single individual with de novo variant reported.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.2546 FEM1B Zornitza Stark gene: FEM1B was added
gene: FEM1B was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: FEM1B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FEM1B were set to 31036916
Phenotypes for gene: FEM1B were set to Syndromic intellectual disability
Review for gene: FEM1B was set to AMBER
Added comment: No OMIM phenotype PMID: 31036916 - a single de novo patient reported in a neurodevelopmental disorder cohort. Authors note another de novo case with the exact same variant (p.Arg126Gln) from the DDD study, and a 3rd patient from GeneMatcher with the same de novo missense again. Decipher shows this variant to be in a highly constrained region of the protein. Cannot be certain the DDD and GeneMatcher individuals are unrelated, therefore treat as two reports for now.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.2545 SLC44A1 Zornitza Stark Added comment: Comment when marking as ready: Progressive neurodegenerative disorder rather than true intellectual disability. The first characteristic neurological abnormalities were noted between the ages of 2–8 years. Cardinal features included tremor, dysarthria, swallowing difficulties, ataxia, truncal muscle weakness, strabismus, and decreased visual acuity.
Intellectual disability syndromic and non-syndromic v0.2545 WIPI2 Zornitza Stark gene: WIPI2 was added
gene: WIPI2 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: WIPI2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: WIPI2 were set to 30968111
Phenotypes for gene: WIPI2 were set to Intellectual developmental disorder with short stature and variable skeletal anomalies 618453
Review for gene: WIPI2 was set to RED
Added comment: Four homozygous individuals from one consanguineous family with intellectual disability, short stature and variable skeletal anomalies. Functional studies in patient cells showed impaired protein function.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.2544 MAB21L1 Kristin Rigbye edited their review of gene: MAB21L1: Changed rating: GREEN
Intellectual disability syndromic and non-syndromic v0.2542 IGF1R Zornitza Stark Phenotypes for gene: IGF1R were changed from to Insulin-like growth factor I, resistance to, MIM# 270450
Intellectual disability syndromic and non-syndromic v0.2539 YARS Zornitza Stark gene: YARS was added
gene: YARS was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: YARS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: YARS were set to 30304524; 29232904; 27633801
Phenotypes for gene: YARS were set to Intellectual disability; deafness; nystagmus; liver dysfunction
Review for gene: YARS was set to GREEN
Added comment: Mono-allelic variants are associated with CMT. However, 10 individuals from three unrelated families reported with bi-allelic variants and a severe phenotype, comprising ID, nystagmus, deafness, liver dysfunction and a range of other features.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.2538 DYRK1A Crystle Lee reviewed gene: DYRK1A: Rating: GREEN; Mode of pathogenicity: None; Publications: 25707398; Phenotypes: Mental retardation, autosomal dominant 7 (MIM#614104); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Intellectual disability syndromic and non-syndromic v0.2538 IGF1R Zornitza Stark Mode of inheritance for gene: IGF1R was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2537 IGF1R Zornitza Stark Mode of inheritance for gene: IGF1R was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2536 IGF1R Zornitza Stark reviewed gene: IGF1R: Rating: GREEN; Mode of pathogenicity: None; Publications: 31586944; Phenotypes: Insulin-like growth factor I, resistance to, MIM# 270450; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2536 SLC44A1 Sebastian Lunke gene: SLC44A1 was added
gene: SLC44A1 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: SLC44A1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC44A1 were set to 31855247
Phenotypes for gene: SLC44A1 were set to progressive ataxia; tremor; cognitive decline; dysphagia; optic atrophy; dysarthria
Review for gene: SLC44A1 was set to GREEN
gene: SLC44A1 was marked as current diagnostic
Added comment: Four affected individuals from three families with homozygous frameshift variants. Functional evidence points to impaired choline transporter function yet unchanged membrane phosphatidylcholine content. Choline treatments may be beneficial.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.2532 CTCF Crystle Lee reviewed gene: CTCF: Rating: GREEN; Mode of pathogenicity: None; Publications: 23746550, 31239556; Phenotypes: Mental retardation, autosomal dominant 21 (MIM#615502); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Intellectual disability syndromic and non-syndromic v0.2528 ZMYND11 Zornitza Stark reviewed gene: ZMYND11: Rating: GREEN; Mode of pathogenicity: None; Publications: 32097528; Phenotypes: Mental retardation, autosomal dominant 30, MIM# 616083; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.2528 MAB21L1 Kristin Rigbye reviewed gene: MAB21L1: Rating: ; Mode of pathogenicity: None; Publications: 27103078, 30487245; Phenotypes: Syndromic scrotal agenesis, syndromic neurodevelopmental disorder with distinctive cerebellar, ocular, craniofacial and genital features (COFG syndrome), Cerebello-Oculo-Facio-Genital syndrome; Mode of inheritance: None
Intellectual disability syndromic and non-syndromic v0.2527 BAZ2B Zornitza Stark gene: BAZ2B was added
gene: BAZ2B was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: BAZ2B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: BAZ2B were set to 31999386
Phenotypes for gene: BAZ2B were set to Intellectual disability; autism
Review for gene: BAZ2B was set to GREEN
Added comment: Postulated as a candidate gene for ID/ASD by large-scale studies. Case series reports two individuals with small CNVs and and six with SNVs, mostly LoF type variants. Although the gene is generally intolerant of LoF, some LoF variants present in gnomad ?incomplete penetrance. Additional reported features were inconsistent
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.2525 CACNB4 Bryony Thompson gene: CACNB4 was added
gene: CACNB4 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: CACNB4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CACNB4 were set to 32176688
Phenotypes for gene: CACNB4 were set to intellectual disability; psychomotor retardation; blindness; epilepsy; movement disorder; cerebellar atrophy
Review for gene: CACNB4 was set to AMBER
Added comment: A homozygous missense variant (Leu126Pro) was identified in two siblings with intellectual disability, psychomotor retardation, blindness, epilepsy, movement disorder and cerebellar atrophy. In vitro functional assays of the variant identify three potential pathomechanisms: impairs the formation of synaptic P/Q-type calcium channel complexes; prevents activity-dependent nuclear targeting and thus β4-dependent nuclear functions; disturbs complex formation between β4b and the TRAF2 and NCK interacting kinase TNIK.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.2523 SLC18A2 Zornitza Stark gene: SLC18A2 was added
gene: SLC18A2 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review
Mode of inheritance for gene: SLC18A2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC18A2 were set to 23363473; 31240161; 26497564
Phenotypes for gene: SLC18A2 were set to Parkinsonism-dystonia, infantile, 2, MIM# 618049
Review for gene: SLC18A2 was set to GREEN
Added comment: At least three unrelated families reported, potential treatment implications.
Sources: Expert Review
Intellectual disability syndromic and non-syndromic v0.2522 KMT2E Zornitza Stark reviewed gene: KMT2E: Rating: GREEN; Mode of pathogenicity: None; Publications: 31079897; Phenotypes: O'Donnell-Luria-Rodan syndrome, MIM# 618512, Intellectual disability, Autism, Seizures; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.2521 RUBCN Zornitza Stark edited their review of gene: RUBCN: Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2518 NUP188 Zornitza Stark changed review comment from: Additional 6 unrelated individuals reported, promoted to Green.; to: Additional 6 unrelated individuals with bi-allelic LoF variants reported, promoted to Green.
Intellectual disability syndromic and non-syndromic v0.2518 NUP188 Zornitza Stark edited their review of gene: NUP188: Added comment: Additional 6 unrelated individuals reported, promoted to Green.; Changed rating: GREEN; Changed publications: 32021605, 28726809, 32275884; Changed phenotypes: microcephaly, ID, cataract, structural brain abnormalities, hypoventilation
Intellectual disability syndromic and non-syndromic v0.2518 NDUFS4 Zornitza Stark reviewed gene: NDUFS4: Rating: GREEN; Mode of pathogenicity: None; Publications: 10944442, 27079373, 19107570, 12616398; Phenotypes: Mitochondrial complex I deficiency, nuclear type 1, 252010, Leigh syndrome, MIM#252010; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2518 AP3B2 Zornitza Stark Phenotypes for gene: AP3B2 were changed from to Early-onset epileptic encephalopathy with optic atrophy, MIM#617276
Intellectual disability syndromic and non-syndromic v0.2515 AP3B2 Zornitza Stark reviewed gene: AP3B2: Rating: GREEN; Mode of pathogenicity: None; Publications: 27889060; Phenotypes: Early-onset epileptic encephalopathy with optic atrophy, MIM#617276; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2515 TCF20 Zornitza Stark Phenotypes for gene: TCF20 were changed from to Developmental delay with variable intellectual impairment and behavioral abnormalities, AD, MIM#618430
Intellectual disability syndromic and non-syndromic v0.2512 TCF20 Zornitza Stark reviewed gene: TCF20: Rating: GREEN; Mode of pathogenicity: None; Publications: 30739909, 30819258, 25228304; Phenotypes: Developmental delay with variable intellectual impairment and behavioral abnormalities, AD, MIM#618430; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.2509 TOP2B Zornitza Stark gene: TOP2B was added
gene: TOP2B was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list
Mode of inheritance for gene: TOP2B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TOP2B were set to 31953910; 28343847; 12773624
Phenotypes for gene: TOP2B were set to Intellectual disability
Review for gene: TOP2B was set to AMBER
Added comment: Two unrelated individuals reported with the same de novo variant, c.187C > T, p.(His63Tyr) and also mouse model data supports role in brain development. Gene has also been associated independently with deafness and with immunodeficiency and the variant-disease relationship remains to be fully elucidated.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.2507 CNKSR1 Zornitza Stark gene: CNKSR1 was added
gene: CNKSR1 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review
Mode of inheritance for gene: CNKSR1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CNKSR1 were set to 30450701; 30237576; 21937992
Phenotypes for gene: CNKSR1 were set to Intellectual disability
Review for gene: CNKSR1 was set to AMBER
Added comment: Three families reported, two as part of large cohorts reporting multiple novel genes. Note the family reported in PMID 30450701 appears to be the same family as reported in PMID 21937992. Some functional data in PMID 30450701, including Drosophila model.
Sources: Expert Review
Intellectual disability syndromic and non-syndromic v0.2506 FRMD4A Zornitza Stark Phenotypes for gene: FRMD4A were changed from Intellectual disability; microcephaly to Intellectual disability; microcephaly; Corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia, MIM# 616819
Intellectual disability syndromic and non-syndromic v0.2504 FRMD4A Zornitza Stark edited their review of gene: FRMD4A: Changed phenotypes: Intellectual disability, microcephaly, Corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia, MIM# 616819
Intellectual disability syndromic and non-syndromic v0.2504 FRMD4A Zornitza Stark edited their review of gene: FRMD4A: Changed phenotypes: Intellectual disability, microcephaly, Corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia 616819
Intellectual disability syndromic and non-syndromic v0.2504 FRMD4A Zornitza Stark gene: FRMD4A was added
gene: FRMD4A was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review
Mode of inheritance for gene: FRMD4A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FRMD4A were set to 25388005; 30214071
Phenotypes for gene: FRMD4A were set to Intellectual disability; microcephaly
Review for gene: FRMD4A was set to AMBER
Added comment: Single Bedouin Israeli family reported with homozygous variant initially. Good segregation data. No functional data. Another family reported as part of a large consanguineous microcephaly cohort, different variant.
Sources: Expert Review
Intellectual disability syndromic and non-syndromic v0.2499 ADARB1 Zornitza Stark gene: ADARB1 was added
gene: ADARB1 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: ADARB1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ADARB1 were set to 32220291
Phenotypes for gene: ADARB1 were set to Intellectual disability; microcephaly; seizures
Review for gene: ADARB1 was set to GREEN
Added comment: Four unrelated individuals with bi-allelic variants in this gene.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.2495 PQBP1 Zornitza Stark reviewed gene: PQBP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 31840929, 14634649, 20410308; Phenotypes: Renpenning syndrome, MIM#309500; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Intellectual disability syndromic and non-syndromic v0.2492 DLG3 Zornitza Stark reviewed gene: DLG3: Rating: GREEN; Mode of pathogenicity: None; Publications: 28777483, 24721225; Phenotypes: Mental retardation, X-linked 90, MIM#300850; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Intellectual disability syndromic and non-syndromic v0.2491 AGTPBP1 Zornitza Stark gene: AGTPBP1 was added
gene: AGTPBP1 was added to Intellectual disability syndromic and non-syndromic. Sources: NHS GMS
Mode of inheritance for gene: AGTPBP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AGTPBP1 were set to 30420557
Phenotypes for gene: AGTPBP1 were set to Early onset cerebellar atrophy, developmental delay, and feeding and respiratory difficulties, severe motor neuronopathy; Neurodegeneration, childhood-onset, with cerebellar atrophy, 618276
Review for gene: AGTPBP1 was set to GREEN
Added comment: Thirteen individuals reported, clinical presentation was with developmental delay, though six went on to have a progressive neurological course. Other features include cerebellar atrophy and neuropathy.
Sources: NHS GMS
Intellectual disability syndromic and non-syndromic v0.2490 ADGRG6 Zornitza Stark reviewed gene: ADGRG6: Rating: RED; Mode of pathogenicity: None; Publications: 30549416, 26004201; Phenotypes: Lethal congenital contracture syndrome 9, OMIM #616503; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2490 NAA15 Ee Ming Wong reviewed gene: NAA15: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 31127942; Phenotypes: Mental retardation, autosomal dominant 50, 617787 (3), NAA15-related syndrome (PMID: 31127942); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Intellectual disability syndromic and non-syndromic v0.2489 NR2F2 Sue White gene: NR2F2 was added
gene: NR2F2 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: NR2F2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: NR2F2 were set to 29478779; 29663647
Phenotypes for gene: NR2F2 were set to mild intellectual disability; congenital heart disease; disorder of sexual differentiation; dysmorphic features
Penetrance for gene: NR2F2 were set to Complete
Review for gene: NR2F2 was set to AMBER
Added comment: Established gene for congenital heart disease and DSD and emerging gene for ID. 2 unrelated individuals published with mild or borderline ID, dysmorphism and de novo truncating/missense variants.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.2487 EIF2AK2 Zornitza Stark gene: EIF2AK2 was added
gene: EIF2AK2 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: EIF2AK2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: EIF2AK2 were set to 32197074
Phenotypes for gene: EIF2AK2 were set to Intellectual disability; white matter abnormalities; ataxia; regression with febrile illness
Review for gene: EIF2AK2 was set to GREEN
Added comment: Eight individuals with de novo variants and complex neurodevelopmental phenotype.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.2486 EIF2AK1 Zornitza Stark gene: EIF2AK1 was added
gene: EIF2AK1 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: EIF2AK1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: EIF2AK1 were set to 32197074
Phenotypes for gene: EIF2AK1 were set to Intellectual disability; white matter abnormalities
Review for gene: EIF2AK1 was set to RED
Added comment: Single individual reported with de novo variant in this gene.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.2484 NOVA2 Zornitza Stark gene: NOVA2 was added
gene: NOVA2 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: NOVA2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: NOVA2 were set to 32197073
Phenotypes for gene: NOVA2 were set to Intellectual disability; autism; hypotonia; spasticity; ataxia
Mode of pathogenicity for gene: NOVA2 was set to Other
Review for gene: NOVA2 was set to GREEN
Added comment: Six individuals with de novo frameshift variants resulting in C-terminal extension suggesting partial LoF as mechanism.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.2482 GNB2 Sue White gene: GNB2 was added
gene: GNB2 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: GNB2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: GNB2 were set to 31698099
Phenotypes for gene: GNB2 were set to intellectual disability; dysmorphic features
Review for gene: GNB2 was set to AMBER
Added comment: emerging evidence of de novo missense variants in patients with intellectual disability
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.2479 CNOT3 Zornitza Stark Phenotypes for gene: CNOT3 were changed from to Intellectual developmental disorder with speech delay, autism, and dysmorphic facies 618672
Intellectual disability syndromic and non-syndromic v0.2476 CNOT3 Teresa Zhao reviewed gene: CNOT3: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 31201375; Phenotypes: Intellectual developmental disorder with speech delay, autism, and dysmorphic facies 618672; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.2473 QARS Zornitza Stark reviewed gene: QARS: Rating: GREEN; Mode of pathogenicity: None; Publications: 28620870, 25471517, 25432320, 25041233, 24656866, 32042906; Phenotypes: Microcephaly, progressive, seizures, and cerebral and cerebellar atrophy, MIM# 615760; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2473 MRPL3 Zornitza Stark reviewed gene: MRPL3: Rating: AMBER; Mode of pathogenicity: None; Publications: 27815843, 21786366; Phenotypes: Combined oxidative phosphorylation deficiency 9, OMIM #614582; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2470 SPATA5 Zornitza Stark reviewed gene: SPATA5: Rating: GREEN; Mode of pathogenicity: None; Publications: 30009132, 29343804; Phenotypes: Epilepsy, hearing loss, and mental retardation syndrome MIM#616577; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2469 ISCA1 Zornitza Stark gene: ISCA1 was added
gene: ISCA1 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list
Mode of inheritance for gene: ISCA1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ISCA1 were set to 28356563; 32092383; 31016283; 30113620; 30105122
Phenotypes for gene: ISCA1 were set to Multiple mitochondrial dysfunctions syndrome 5, MIM# 617613
Review for gene: ISCA1 was set to GREEN
gene: ISCA1 was marked as current diagnostic
Added comment: Multiple unrelated families reported. Severe disorder characterised by progressive neurologic deterioration beginning in early infancy. Affected individuals have essentially no psychomotor development and have early-onset seizures with neurologic decline and spasticity. Brain imaging shows severe leukodystrophy with evidence of dys- or delayed myelination. Rat model results in early lethality. Founder variant c.259G > A, p.(Glu87Lys) reported in Indian families.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.2467 CAMTA1 Zornitza Stark reviewed gene: CAMTA1: Rating: GREEN; Mode of pathogenicity: None; Publications: 32157189, 22693284; Phenotypes: Cerebellar ataxia, nonprogressive, with mental retardation (614756 AD); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.2464 GPT2 Chern Lim reviewed gene: GPT2: Rating: GREEN; Mode of pathogenicity: None; Publications: 27601654, 25758935; Phenotypes: Mental retardation, autosomal recessive 49, MIM#616281; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2462 SUPT16H Zornitza Stark gene: SUPT16H was added
gene: SUPT16H was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: SUPT16H was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SUPT16H were set to 31924697
Phenotypes for gene: SUPT16H were set to Intellectual disability; Abnormality of the corpus callosum
Review for gene: SUPT16H was set to GREEN
Added comment: Four unrelated individuals with de novo missense variants in this gene. Publication also reports on a deletion, but note this includes other genes and the individual also had another CNV.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.2460 SLC5A6 Zornitza Stark changed review comment from: Two unrelated families reported, functional data and some evidence of response to treatment.
Sources: Literature; to: Three unrelated families reported, functional data and some evidence of response to treatment.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.2460 SLC5A6 Zornitza Stark edited their review of gene: SLC5A6: Changed publications: 31754459, 27904971, 31392107
Intellectual disability syndromic and non-syndromic v0.2459 RARS Zornitza Stark gene: RARS was added
gene: RARS was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list
Mode of inheritance for gene: RARS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RARS were set to 31814314
Phenotypes for gene: RARS were set to Leukodystrophy, hypomyelinating, 9 MIM# 616140
Review for gene: RARS was set to GREEN
gene: RARS was marked as current diagnostic
Added comment: 15 families reported, DD/ID is part of the phenotype.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.2457 CXorf56 Zornitza Stark edited their review of gene: CXorf56: Added comment: Additional report of three more families, upgrade to Green.; Changed rating: GREEN; Changed publications: 29374277, 31822863; Changed phenotypes: Mental retardation, X-linked 107, MIM# 301013
Intellectual disability syndromic and non-syndromic v0.2456 TNR Zornitza Stark gene: TNR was added
gene: TNR was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list
Mode of inheritance for gene: TNR was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TNR were set to 32099069
Phenotypes for gene: TNR were set to Spastic para- or tetraparesis; Axial muscular hypotonia; Intellectual disability; Transient opisthotonus
Review for gene: TNR was set to GREEN
Added comment: 13 individuals from 8 unrelated families reported.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.2455 RSPRY1 Zornitza Stark changed review comment from: Two unrelated individuals reported, some functional evidence.
Sources: Expert list; to: Two unrelated individuals reported, some functional evidence. Dev delay/autism part of the phenotype.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.2449 RPS23 Zornitza Stark reviewed gene: RPS23: Rating: AMBER; Mode of pathogenicity: None; Publications: 28257692; Phenotypes: Brachycephaly, trichomegaly, and developmental delay, MIM# 617412; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.2448 RNF13 Zornitza Stark gene: RNF13 was added
gene: RNF13 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list
Mode of inheritance for gene: RNF13 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RNF13 were set to 30595371
Phenotypes for gene: RNF13 were set to Epileptic encephalopathy, early infantile, 73 618379
Mode of pathogenicity for gene: RNF13 was set to Other
Review for gene: RNF13 was set to GREEN
Added comment: Three unrelated individuals with de novo variants in this gene and severe neurological phenotype, including microcephaly, seizures, visual impairment, profound developmental delay.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.2443 RIMS1 Zornitza Stark reviewed gene: RIMS1: Rating: RED; Mode of pathogenicity: None; Publications: 25284784, 12659814; Phenotypes: Autism, Cone-rod dystrophy 7 , MIM#603649; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.2441 RHEB Zornitza Stark Mode of inheritance for gene: RHEB was changed from Unknown to Other
Intellectual disability syndromic and non-syndromic v0.2440 RHEB Zornitza Stark reviewed gene: RHEB: Rating: GREEN; Mode of pathogenicity: None; Publications: 31337748, 29051493; Phenotypes: Intellectual disability, Macrocephaly, Focal cortical dysplasia; Mode of inheritance: Other
Intellectual disability syndromic and non-syndromic v0.2439 MRPS34 Zornitza Stark gene: MRPS34 was added
gene: MRPS34 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list
Mode of inheritance for gene: MRPS34 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MRPS34 were set to 28777931
Phenotypes for gene: MRPS34 were set to Combined oxidative phosphorylation deficiency 32, MIM# 617664
Review for gene: MRPS34 was set to GREEN
gene: MRPS34 was marked as current diagnostic
Added comment: Six individuals from 4 unrelated families; clinical presentation is with developmental delay/regression. More variable features include movement disorders, microcephaly, strabismus, nystagmus, optic atrophy.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.2438 MIR17HG Zornitza Stark edited their review of gene: MIR17HG: Changed rating: AMBER
Intellectual disability syndromic and non-syndromic v0.2437 MFSD2A Zornitza Stark gene: MFSD2A was added
gene: MFSD2A was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list
Mode of inheritance for gene: MFSD2A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MFSD2A were set to 26005865; 26005868; 24828044
Phenotypes for gene: MFSD2A were set to Microcephaly 15, primary, autosomal recessive, MIM# 616486
Review for gene: MFSD2A was set to GREEN
Added comment: Three unrelated families and two animal models.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.2433 MED13 Zornitza Stark edited their review of gene: MED13: Changed rating: GREEN
Intellectual disability syndromic and non-syndromic v0.2433 MED13 Zornitza Stark reviewed gene: MED13: Rating: ; Mode of pathogenicity: None; Publications: 29740699; Phenotypes: Intellectual developmental disorder 61, MIM# 618009; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.2432 MED12L Zornitza Stark gene: MED12L was added
gene: MED12L was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list
Mode of inheritance for gene: MED12L was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MED12L were set to 31155615
Phenotypes for gene: MED12L were set to Intellectual disability; Seizures; Autism
Review for gene: MED12L was set to GREEN
Added comment: 7 individuals reported, 3 with CNVs (encompassing other genes) and 4 with SNVs (frameshift, nonsense and splice site).
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.2430 MCM3AP Zornitza Stark gene: MCM3AP was added
gene: MCM3AP was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list
Mode of inheritance for gene: MCM3AP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MCM3AP were set to 24123876; 28633435; 28969388; 29982295
Phenotypes for gene: MCM3AP were set to Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development, MIM#618124
Review for gene: MCM3AP was set to GREEN
gene: MCM3AP was marked as current diagnostic
Added comment: ID is a feature in many of the reported individuals.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.2428 MARS2 Zornitza Stark reviewed gene: MARS2: Rating: RED; Mode of pathogenicity: None; Publications: 25754315; Phenotypes: Combined oxidative phosphorylation deficiency 25, OMIM #616430; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2427 MAPRE2 Zornitza Stark gene: MAPRE2 was added
gene: MAPRE2 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list
Mode of inheritance for gene: MAPRE2 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Publications for gene: MAPRE2 were set to 26637975
Phenotypes for gene: MAPRE2 were set to Symmetric circumferential skin creases, congenital, 2, MIM# 616734
Review for gene: MAPRE2 was set to GREEN
Added comment: ID is part of the phenotype, more severe in those with bi-allelic variants.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.2423 PURA Zornitza Stark reviewed gene: PURA: Rating: GREEN; Mode of pathogenicity: None; Publications: 25439098, 25342064, 12972605; Phenotypes: Mental retardation, autosomal dominant 31, MIM# 616158; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.2423 BPTF Zornitza Stark Phenotypes for gene: BPTF were changed from to Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies AD, MIM#617755
Intellectual disability syndromic and non-syndromic v0.2420 BPTF Zornitza Stark reviewed gene: BPTF: Rating: GREEN; Mode of pathogenicity: None; Publications: 28942966; Phenotypes: Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies AD, MIM#617755; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.2420 TRIO Zornitza Stark changed review comment from: The nonsense mutations are spread along the TRIO sequence, and affected individuals show variable neurodevelopmental phenotypes. In contrast, missense variants cluster into two mutational hotspots in the TRIO sequence, one in the seventh spectrin repeat and one in the RAC1-activating GEFD1.; to: The nonsense mutations are spread along the TRIO sequence, and affected individuals show variable neurodevelopmental phenotypes. In contrast, missense variants cluster into two mutational hotspots in the TRIO sequence, one in the seventh spectrin repeat and one in the RAC1-activating GEFD1. Individuals with a pathogenic variant in the seventh spectrin repeat have a more severe ID associated with macrocephaly than do most individuals with GEFD1 variants, who display milder ID and microcephaly.
Intellectual disability syndromic and non-syndromic v0.2417 TRIO Zornitza Stark reviewed gene: TRIO: Rating: GREEN; Mode of pathogenicity: None; Publications: 26721934, 32109419; Phenotypes: Mental retardation, autosomal dominant 44, MIM# 617061; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.2415 MAN1B1 Zornitza Stark reviewed gene: MAN1B1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mental retardation, autosomal recessive 15, MIM#614202; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2413 KMT2C Zornitza Stark reviewed gene: KMT2C: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Kleefstra syndrome 2, MIM#617768; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.2413 NUP188 Zornitza Stark edited their review of gene: NUP188: Changed rating: AMBER
Intellectual disability syndromic and non-syndromic v0.2413 NUP188 Zornitza Stark changed review comment from: Two unrelated individuals with homozygous truncating variants in this gene reported, Sandestin et al 2019, plus another by Strauss et al 2018. Also note two papers reporting mono allelic variants and disparate phenotypes (CDH and mitral valve prolapse, respectively), Yates et al, Haskell et al.; to: Two unrelated individuals with homozygous truncating variants in this gene reported, Sandestig et al 2019 (died in early infancy), plus another by Strauss et al 2018. Also note two papers reporting mono allelic variants and disparate phenotypes (CDH and mitral valve prolapse, respectively), Yates et al, Haskell et al.
Intellectual disability syndromic and non-syndromic v0.2413 NUP188 Zornitza Stark edited their review of gene: NUP188: Changed publications: 32021605, 28726809
Intellectual disability syndromic and non-syndromic v0.2412 NUDT2 Zornitza Stark gene: NUDT2 was added
gene: NUDT2 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list
Mode of inheritance for gene: NUDT2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NUDT2 were set to 27431290; 30059600
Phenotypes for gene: NUDT2 were set to Muscular hypotonia; Global developmental delay; Intellectual disability
Review for gene: NUDT2 was set to AMBER
Added comment: 7 affected individuals from 4 Saudi families, with same homozygous truncating variant.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.2411 NPHP3 Zornitza Stark reviewed gene: NPHP3: Rating: GREEN; Mode of pathogenicity: None; Publications: 18371931; Phenotypes: Meckel syndrome 7, MIM# 267010; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2410 NKAP Zornitza Stark gene: NKAP was added
gene: NKAP was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list
Mode of inheritance for gene: NKAP was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for gene: NKAP were set to 26358559; 26350204; 31587868
Phenotypes for gene: NKAP were set to Intellectual disability
Review for gene: NKAP was set to GREEN
gene: NKAP was marked as current diagnostic
Added comment: 10 males from 8 unrelated families with missense variants in NKAP. Main features: intellectual disability, hypotonia, tall stature with Marfanoid habitus. Recurrent variant (NM_024528:c.988G>A / p.Arg333Gln) seen in several families from different ethnic backgrounds.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.2405 NHP2 Zornitza Stark reviewed gene: NHP2: Rating: AMBER; Mode of pathogenicity: None; Publications: 18523010, 31985013; Phenotypes: Dyskeratosis congenita, autosomal recessive 2, MIM# 613987, Høyeraal-Hreidarsson syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2405 NHEJ1 Zornitza Stark Phenotypes for gene: NHEJ1 were changed from to Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation, MIM#611291
Intellectual disability syndromic and non-syndromic v0.2401 NHEJ1 Zornitza Stark reviewed gene: NHEJ1: Rating: RED; Mode of pathogenicity: None; Publications: 16439204; Phenotypes: Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation, MIM#611291; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2401 NGF Zornitza Stark Phenotypes for gene: NGF were changed from to Neuropathy, hereditary sensory and autonomic, type V, MIM# 608654
Intellectual disability syndromic and non-syndromic v0.2398 NGF Zornitza Stark reviewed gene: NGF: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Neuropathy, hereditary sensory and autonomic, type V, MIM# 608654; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2397 NDUFV2 Zornitza Stark changed review comment from: Multiple unrelated families.; to: Multiple unrelated families. Common presenting features include HOCM and encephalopathy, unclear in what proportion ID is likely to be the presenting or main feature.
Intellectual disability syndromic and non-syndromic v0.2397 NDUFV2 Zornitza Stark edited their review of gene: NDUFV2: Changed rating: AMBER
Intellectual disability syndromic and non-syndromic v0.2396 NDUFS6 Zornitza Stark changed review comment from: Multiple affected families, functional data.; to: Multiple affected families, functional data. Limited clinical information in some reports. In some families, the presentation has been with severe neonatal lactic acidosis, therefore difficult to be sure in what proportion ID is likely to be the presenting or main feature.
Intellectual disability syndromic and non-syndromic v0.2396 NDUFS6 Zornitza Stark edited their review of gene: NDUFS6: Changed rating: AMBER
Intellectual disability syndromic and non-syndromic v0.2395 NDUFS3 Zornitza Stark changed review comment from: At least three families reported.; to: At least three families reported. In the original report, the affected individual was phenotypically normal until 9 years of age but had rapidly progressive multi-system disease.
Intellectual disability syndromic and non-syndromic v0.2395 NDUFS3 Zornitza Stark edited their review of gene: NDUFS3: Changed rating: AMBER
Intellectual disability syndromic and non-syndromic v0.2394 NDUFS2 Zornitza Stark changed review comment from: Multiple unrelated families. Phenotype in one family was more consistent with regression; in another family severe neonatal lactic acidosis led to death in the first few days of life; and in the third family presentation was with failure to thrive, vomiting, nystagmus, and specifically normal cognition despite delayed motor milestones due to hypotonia. Limited clinical information reported in other papers therefore difficult to know whether ID is likely to be the presenting or main feature of this mitochondrial disorder..; to: Multiple unrelated families. Phenotype in one family was more consistent with regression; in another family severe neonatal lactic acidosis led to death in the first few days of life; and in the third family presentation was with failure to thrive, vomiting, nystagmus, and specifically normal cognition despite delayed motor milestones due to hypotonia. Limited clinical information reported in other papers therefore difficult to know whether ID is likely to be the presenting or main feature of this mitochondrial disorder.
Intellectual disability syndromic and non-syndromic v0.2394 NDUFS2 Zornitza Stark changed review comment from: Multiple unrelated families.; to: Multiple unrelated families. Phenotype in one family was more consistent with regression; in another family severe neonatal lactic acidosis led to death in the first few days of life; and in the third family presentation was with failure to thrive, vomiting, nystagmus, and specifically normal cognition despite delayed motor milestones due to hypotonia. Limited clinical information reported in other papers therefore difficult to know whether ID is likely to be the presenting or main feature of this mitochondrial disorder..
Intellectual disability syndromic and non-syndromic v0.2394 NDUFS2 Zornitza Stark edited their review of gene: NDUFS2: Changed rating: AMBER
Intellectual disability syndromic and non-syndromic v0.2394 TBR1 Zornitza Stark Phenotypes for gene: TBR1 were changed from to Intellectual developmental disorder with autism and speech delay, MIM# 606053
Intellectual disability syndromic and non-syndromic v0.2391 TBR1 Zornitza Stark reviewed gene: TBR1: Rating: GREEN; Mode of pathogenicity: None; Publications: 25232744, 30250039; Phenotypes: Intellectual developmental disorder with autism and speech delay, MIM# 606053; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.2388 NDUFS1 Zornitza Stark reviewed gene: NDUFS1: Rating: GREEN; Mode of pathogenicity: None; Publications: 20382551; Phenotypes: Mitochondrial complex I deficiency, nuclear type 5, MIM# 618226; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2387 NDUFB3 Zornitza Stark changed review comment from: Ten families and functional data.; to: Ten families and functional data. In particular, the 8 families of shared Irish ancestry only had short stature and dysmorphic features, without marked metabolic disturbance. One of the other reported individuals died in infancy, again making it difficult to know whether ID would have been part of the phenotype.
Intellectual disability syndromic and non-syndromic v0.2387 NDUFB3 Zornitza Stark edited their review of gene: NDUFB3: Changed rating: AMBER
Intellectual disability syndromic and non-syndromic v0.2386 NDUFAF6 Zornitza Stark changed review comment from: Multiple unrelated families reported.; to: Multiple unrelated families reported. Presentation in one family was with lactic acidosis in newborn period, and in another with regression in childhood. Limited phenotypic information for others. Unclear if and in what proportion of affected individuals ID is likely to be the main or presenting feature.
Intellectual disability syndromic and non-syndromic v0.2386 NDUFAF6 Zornitza Stark edited their review of gene: NDUFAF6: Changed rating: AMBER; Changed publications: 26741492, 18614015, 27623250
Intellectual disability syndromic and non-syndromic v0.2382 NDUFAF5 Zornitza Stark reviewed gene: NDUFAF5: Rating: AMBER; Mode of pathogenicity: None; Publications: 19542079, 21607760, 18940309; Phenotypes: Mitochondrial complex I deficiency, nuclear type 16, MIM# 618238; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2381 NDUFAF4 Zornitza Stark changed review comment from: Two unrelated families and functional data.; to: Two unrelated families and functional data. Multiple affected individuals in one family (18179882) presented in newborn period with marked lactic acidosis, one long-term survivor (7yo at assessment) had profound ID. Individual from second family (28853723) presented in infancy with dev delay. Borderline gene-disease association for mitochondrial disease, and unclear what proportion of individuals are likely to present/manifest as ID.
Intellectual disability syndromic and non-syndromic v0.2381 NDUFAF4 Zornitza Stark edited their review of gene: NDUFAF4: Changed rating: AMBER
Intellectual disability syndromic and non-syndromic v0.2380 NDUFAF3 Zornitza Stark changed review comment from: Three unrelated families reported.; to: Three unrelated families reported, severe neonatal presentation with lactic acidosis, seizures, and need for respiratory support. ID is unlikely to be the presenting or main feature.
Intellectual disability syndromic and non-syndromic v0.2380 NDUFAF3 Zornitza Stark edited their review of gene: NDUFAF3: Changed rating: AMBER
Intellectual disability syndromic and non-syndromic v0.2379 NDUFAF2 Zornitza Stark changed review comment from: At least four unrelated families reported.; to: At least four unrelated families reported, complex neurological presentation with optic atrophy, nystagmus, ataxia in some, others described as ventilator-dependent. ID is unlikely to be the presenting or main feature.
Intellectual disability syndromic and non-syndromic v0.2379 NDUFAF2 Zornitza Stark edited their review of gene: NDUFAF2: Changed rating: AMBER
Intellectual disability syndromic and non-syndromic v0.2379 NDUFAF2 Zornitza Stark edited their review of gene: NDUFAF2: Changed publications: 20571988
Intellectual disability syndromic and non-syndromic v0.2379 NDUFAF1 Zornitza Stark changed review comment from: Three unrelated families described, DD/ID part of the phenotype.; to: Three unrelated families described, DD/ID part of the phenotype, specifically mentioned in two families, child in third family died in infancy from HOCM.
Intellectual disability syndromic and non-syndromic v0.2378 NDUFA9 Zornitza Stark changed review comment from: Two unrelated families and functional data. Broad spectrum, likely to include ID.; to: Two unrelated families and functional data. Broad spectrum, likely to include ID but that is yet to be established.
Intellectual disability syndromic and non-syndromic v0.2378 NDUFA9 Zornitza Stark edited their review of gene: NDUFA9: Changed rating: AMBER
Intellectual disability syndromic and non-syndromic v0.2377 NDUFA10 Zornitza Stark Deleted their comment
Intellectual disability syndromic and non-syndromic v0.2377 NDUFA10 Zornitza Stark edited their review of gene: NDUFA10: Added comment: Two families, functional data, but phenotypic description only available for one (DD/ID part of the phenotype).; Changed rating: AMBER
Intellectual disability syndromic and non-syndromic v0.2371 NBN Zornitza Stark reviewed gene: NBN: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Nijmegen breakage syndrome, MIM# 251260; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2371 SYNGAP1 Ain Roesley reviewed gene: SYNGAP1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 26079862; Phenotypes: Intellectual disability, autosomal dominant 5 (MIM # 612621); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.2361 XPA Zornitza Stark reviewed gene: XPA: Rating: GREEN; Mode of pathogenicity: None; Publications: 26302748, 25566891, 24135642; Phenotypes: Xeroderma pigmentosum, group A, OMIM# 278700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2361 WNT5A Zornitza Stark reviewed gene: WNT5A: Rating: GREEN; Mode of pathogenicity: None; Publications: 17256787; Phenotypes: Robinow syndrome, autosomal dominant 1, OMIM# 180700; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.2360 WFS1 Zornitza Stark Mode of inheritance for gene: WFS1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2358 WFS1 Zornitza Stark reviewed gene: WFS1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Wolfram syndrome 1, MIM# 222300, Wolfram-like syndrome, autosomal dominant, MIM# 614296; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2358 WDR81 Zornitza Stark Phenotypes for gene: WDR81 were changed from to Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2, 610185; Hydrocephalus, congenital, 3, with brain anomalies, 617967
Intellectual disability syndromic and non-syndromic v0.2355 WDR4 Zornitza Stark Added comment: Comment when marking as ready: Borderline Green rating: three families but two have the same homozygous variant; some functional data to support gene-disease association.
Intellectual disability syndromic and non-syndromic v0.2350 TXNL4A Zornitza Stark reviewed gene: TXNL4A: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Burn-McKeown syndrome, MIM# 608572; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2349 TUBGCP4 Zornitza Stark gene: TUBGCP4 was added
gene: TUBGCP4 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list
Mode of inheritance for gene: TUBGCP4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TUBGCP4 were set to 25817018
Phenotypes for gene: TUBGCP4 were set to Microcephaly and chorioretinopathy, autosomal recessive, 3, 616335
Review for gene: TUBGCP4 was set to AMBER
Added comment: Three unrelated families reported; ID described as mild.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.2348 TUBA8 Zornitza Stark Phenotypes for gene: TUBA8 were changed from to Cortical dysplasia, complex, with other brain malformations 8, MIM# 613180
Intellectual disability syndromic and non-syndromic v0.2344 TUBA8 Zornitza Stark reviewed gene: TUBA8: Rating: RED; Mode of pathogenicity: None; Publications: 19896110, 31481326, 28388629; Phenotypes: Cortical dysplasia, complex, with other brain malformations 8, MIM# 613180; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2344 TSHR Zornitza Stark Phenotypes for gene: TSHR were changed from to Hypothyroidism, congenital, nongoitrous, 1, MIM# 275200
Intellectual disability syndromic and non-syndromic v0.2340 TSHR Zornitza Stark reviewed gene: TSHR: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Hypothyroidism, congenital, nongoitrous, 1, MIM# 275200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2339 TSEN15 Zornitza Stark gene: TSEN15 was added
gene: TSEN15 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list
Mode of inheritance for gene: TSEN15 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TSEN15 were set to 27392077; 30914295; 25558065
Phenotypes for gene: TSEN15 were set to Pontocerebellar hypoplasia, type 2F, 617026
Review for gene: TSEN15 was set to GREEN
Added comment: Three unrelated families reported.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.2334 TRIP13 Zornitza Stark reviewed gene: TRIP13: Rating: AMBER; Mode of pathogenicity: None; Publications: 28553959; Phenotypes: Mosaic variegated aneuploidy syndrome 3, MIM# 617598; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2334 TRIM8 Zornitza Stark changed review comment from: Six unrelated individuals reported.
Sources: Expert list; to: Six unrelated individuals reported. All variants reported to date are truncating, affecting the last (sixth exon) and as a result may escape nonsense-mediated decay. Since TRIM8 homodimerizes via its (upstream) coiled-coil domain and its C-terminal domain is required for nuclear localization, a dominant-negative effect is postulated by the authors. Haploinsufficiency appears less likely.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.2332 TRAK1 Zornitza Stark Phenotypes for gene: TRAK1 were changed from to Epileptic encephalopathy, early infantile, 68, MIM# 618201
Intellectual disability syndromic and non-syndromic v0.2329 TRAK1 Zornitza Stark reviewed gene: TRAK1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28940097, 28364549, 29846532; Phenotypes: Epileptic encephalopathy, early infantile, 68, MIM# 618201; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2327 TPK1 Zornitza Stark Phenotypes for gene: TPK1 were changed from to Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type), MIM# 614458
Intellectual disability syndromic and non-syndromic v0.2324 TPK1 Zornitza Stark reviewed gene: TPK1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type), MIM# 614458; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2320 TPH2 Zornitza Stark reviewed gene: TPH2: Rating: RED; Mode of pathogenicity: None; Publications: 18347598; Phenotypes: {Attention deficit-hyperactivity disorder, susceptibility to, 7} 613003; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.2319 SPOP Zornitza Stark gene: SPOP was added
gene: SPOP was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: SPOP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SPOP were set to 32109420
Phenotypes for gene: SPOP were set to Intellectual disability; dysmorphism; microcephaly; macrocephaly
Mode of pathogenicity for gene: SPOP was set to Other
Review for gene: SPOP was set to GREEN
Added comment: Seven individuals reported with de novo missense variants in this gene. Gain-of-function variants associated with microcephaly whereas dominant-negative variants associated with macrocephaly.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.2314 TNIK Zornitza Stark reviewed gene: TNIK: Rating: AMBER; Mode of pathogenicity: None; Publications: 27106596, 23035106; Phenotypes: Mental retardation, autosomal recessive 54, MIM# 617028; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2310 TMLHE Zornitza Stark reviewed gene: TMLHE: Rating: AMBER; Mode of pathogenicity: None; Publications: 21865298; Phenotypes: {Autism, susceptibility to, X-linked 6} 300872; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Intellectual disability syndromic and non-syndromic v0.2309 TMEM94 Zornitza Stark gene: TMEM94 was added
gene: TMEM94 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list
Mode of inheritance for gene: TMEM94 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TMEM94 were set to 30526868
Phenotypes for gene: TMEM94 were set to Intellectual developmental disorder with cardiac defects and dysmorphic facies, MIM#618316
Review for gene: TMEM94 was set to GREEN
Added comment: 10 individuals from 6 unrelated families.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.2304 TMEM260 Zornitza Stark reviewed gene: TMEM260: Rating: RED; Mode of pathogenicity: None; Publications: 28318500; Phenotypes: Structural heart defects and renal anomalies syndrome, MIM# 617478; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2303 TKT Zornitza Stark reviewed gene: TKT: Rating: AMBER; Mode of pathogenicity: None; Publications: 27259054; Phenotypes: Short stature, developmental delay, and congenital heart defects, OMIM #617044; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2300 TINF2 Zornitza Stark reviewed gene: TINF2: Rating: GREEN; Mode of pathogenicity: None; Publications: 1404302, 18252230, 21477109; Phenotypes: Revesz syndrome, MIM# 268130; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.2299 TIMM50 Zornitza Stark gene: TIMM50 was added
gene: TIMM50 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list
Mode of inheritance for gene: TIMM50 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TIMM50 were set to 27573165; 30190335; 31058414
Phenotypes for gene: TIMM50 were set to 3-methylglutaconic aciduria, type IX, MIM#617698
Review for gene: TIMM50 was set to GREEN
Added comment: Four unrelated families reported, ID is part of the phenotype.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.2298 THRB Zornitza Stark changed review comment from: ID is not part of the phenotype.; to: ID is not generally part of the phenotype but a couple of more severe presentations including ID reported.
Intellectual disability syndromic and non-syndromic v0.2298 THRB Zornitza Stark edited their review of gene: THRB: Changed rating: AMBER; Changed publications: 22319036, 1682340
Intellectual disability syndromic and non-syndromic v0.2298 THRB Zornitza Stark Marked gene: THRB as ready
Intellectual disability syndromic and non-syndromic v0.2298 THRB Zornitza Stark Gene: thrb has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.2298 THRB Zornitza Stark Phenotypes for gene: THRB were changed from to Thyroid hormone resistance, autosomal recessive, MIM# 274300; Thyroid hormone resistance, autosomal dominant, MIM# 188570
Intellectual disability syndromic and non-syndromic v0.2297 THRB Zornitza Stark Publications for gene: THRB were set to
Intellectual disability syndromic and non-syndromic v0.2296 THRB Zornitza Stark Mode of inheritance for gene: THRB was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2295 THRB Zornitza Stark Classified gene: THRB as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.2295 THRB Zornitza Stark Gene: thrb has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.2294 THRB Zornitza Stark Classified gene: THRB as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.2294 THRB Zornitza Stark Gene: thrb has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.2293 THRB Zornitza Stark reviewed gene: THRB: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Thyroid hormone resistance, autosomal recessive, MIM# 274300, Thyroid hormone resistance, autosomal dominant, MIM# 188570; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2292 TGFB1 Zornitza Stark gene: TGFB1 was added
gene: TGFB1 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list
Mode of inheritance for gene: TGFB1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TGFB1 were set to 29483653
Phenotypes for gene: TGFB1 were set to Inflammatory bowel disease, immunodeficiency, and encephalopathy, MIM# 618213
Review for gene: TGFB1 was set to AMBER
Added comment: Three individuals from two unrelated families reported. DD/ID and seizures in addition to IBD/immunodeficiency.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.2291 TERT Zornitza Stark reviewed gene: TERT: Rating: GREEN; Mode of pathogenicity: None; Publications: 18042801, 17785587; Phenotypes: Hoyeraal-Hreidarsson syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2285 TECR Zornitza Stark reviewed gene: TECR: Rating: RED; Mode of pathogenicity: None; Publications: 21212097; Phenotypes: Mental retardation, autosomal recessive, MIM#614020; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2281 TBC1D7 Zornitza Stark reviewed gene: TBC1D7: Rating: AMBER; Mode of pathogenicity: None; Publications: 24515783, 23687350; Phenotypes: Macrocephaly/megalencephaly syndrome, autosomal recessive, MIM# 248000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2281 TASP1 Zornitza Stark changed review comment from: Four unrelated families reported; two with founder mutation. Protein interacts with KMT2A and KMT2D. Another infant with a de novo missense variant reported in a single infant with multiple congenital abnormalities, insufficient evidence for mono allelic disease at present.
Sources: Literature; to: Four unrelated families reported; two with founder mutation. Protein interacts with KMT2A and KMT2D. Another de novo missense variant reported in a single infant with multiple congenital abnormalities, insufficient evidence for mono allelic disease at present.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.2277 TAF2 Zornitza Stark reviewed gene: TAF2: Rating: AMBER; Mode of pathogenicity: None; Publications: 21937992, 22633631, 26350204; Phenotypes: Mental retardation, autosomal recessive 40, MIM# 615599; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2273 TAF13 Zornitza Stark reviewed gene: TAF13: Rating: AMBER; Mode of pathogenicity: None; Publications: 28257693; Phenotypes: Mental retardation, autosomal recessive 60, MIM# 617432; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2268 SYT14 Zornitza Stark reviewed gene: SYT14: Rating: RED; Mode of pathogenicity: None; Publications: 21835308; Phenotypes: Spinocerebellar ataxia, autosomal recessive 11, MIM# 614229; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2268 SUZ12 Zornitza Stark Phenotypes for gene: SUZ12 were changed from no OMIM number yet. to Imagawa-Matsumoto syndrome, MIM# 618786; Intellectual disability; Overgrowth
Intellectual disability syndromic and non-syndromic v0.2267 SUZ12 Zornitza Stark reviewed gene: SUZ12: Rating: GREEN; Mode of pathogenicity: None; Publications: 31736240, 30019515, 28229514; Phenotypes: Imagawa-Matsumoto syndrome, MIM# 618786, Intellectual disability, Overgrowth; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.2266 SUFU Zornitza Stark gene: SUFU was added
gene: SUFU was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list
Mode of inheritance for gene: SUFU was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SUFU were set to 28965847
Phenotypes for gene: SUFU were set to Joubert syndrome 32, MIM#617757
Review for gene: SUFU was set to AMBER
Added comment: Two unrelated families described with what are postulated to be hypomorphic bi-allelic variants in this gene and Joubert syndrome. Note gene also causes dominant Basal Cell Nevus Syndrome.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.2262 STX11 Zornitza Stark reviewed gene: STX11: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Hemophagocytic lymphohistiocytosis, familial, 4, MIM# 603552; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2262 STT3A Zornitza Stark edited their review of gene: STT3A: Changed rating: GREEN; Changed publications: 23842455, 30701557, 28424003; Changed phenotypes: Congenital disorder of glycosylation, type Iw, OMIM #615596; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2261 STRADA Zornitza Stark gene: STRADA was added
gene: STRADA was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list
Mode of inheritance for gene: STRADA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: STRADA were set to 17522105; 27170158; 28688840
Phenotypes for gene: STRADA were set to Polyhydramnios, megalencephaly, and symptomatic epilepsy, MIM# 611087
Review for gene: STRADA was set to GREEN
Added comment: Seven distantly related Menonite children plus four other unrelated families reported.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.2256 SRPX2 Zornitza Stark reviewed gene: SRPX2: Rating: RED; Mode of pathogenicity: None; Publications: 16497722, 23933820, 23871722; Phenotypes: Rolandic epilepsy, mental retardation, and speech dyspraxia, MIM# 300643; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Intellectual disability syndromic and non-syndromic v0.2252 SPRTN Zornitza Stark reviewed gene: SPRTN: Rating: RED; Mode of pathogenicity: None; Publications: 25261934; Phenotypes: Ruijs-Aalfs syndrome, MIM# 616200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2250 KMT2A Zornitza Stark reviewed gene: KMT2A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Wiedemann-Steiner syndrome, MIM# 605130 AD; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.2247 CEP135 Zornitza Stark reviewed gene: CEP135: Rating: GREEN; Mode of pathogenicity: None; Publications: 30214071, 22521416; Phenotypes: Microcephalic primordial dwarfism, Microcephaly 8, primary, autosomal recessive, 614673; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2244 CDK13 Zornitza Stark reviewed gene: CDK13: Rating: GREEN; Mode of pathogenicity: None; Publications: 29021403, 29393965, 30904094; Phenotypes: Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder, 617360; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.2243 SPG7 Zornitza Stark reviewed gene: SPG7: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Spastic paraplegia 7, autosomal recessive, MIM# 607259; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2240 SPAST Zornitza Stark reviewed gene: SPAST: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Spastic paraplegia 4, autosomal dominant, MIM# 182601; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.2238 RASA1 Zornitza Stark reviewed gene: RASA1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Capillary malformation-arteriovenous malformation 1, MIM# 608354; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.2238 RASA1 Sebastian Lunke gene: RASA1 was added
gene: RASA1 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review
Mode of inheritance for gene: RASA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Review for gene: RASA1 was set to RED
Added comment: GEL review red in 2018, no evidence for link with ID since
Sources: Expert Review
Intellectual disability syndromic and non-syndromic v0.2237 RAX Sebastian Lunke gene: RAX was added
gene: RAX was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review
Mode of inheritance for gene: RAX was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RAX were set to 30762128; 24033328
Phenotypes for gene: RAX were set to MICROPHTHALMIA, ISOLATED 3; MCOP3
Review for gene: RAX was set to RED
Added comment: Only three cases described with intellectual disability in addition to microphthalmia, no new descriptions of ID association since 2014. Not clear if the cases are from the same or different families. Link with ID seems tenuous at best.
Sources: Expert Review
Intellectual disability syndromic and non-syndromic v0.2231 SOBP Zornitza Stark reviewed gene: SOBP: Rating: RED; Mode of pathogenicity: None; Publications: 21035105; Phenotypes: Mental retardation, anterior maxillary protrusion, and strabismus, MIM# 613671; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2230 SNORD118 Zornitza Stark reviewed gene: SNORD118: Rating: AMBER; Mode of pathogenicity: None; Publications: 27571260; Phenotypes: Leukoencephalopathy, brain calcifications, and cysts, MIM# 614561; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2226 SNIP1 Zornitza Stark reviewed gene: SNIP1: Rating: RED; Mode of pathogenicity: None; Publications: 22279524; Phenotypes: Psychomotor retardation, epilepsy, and craniofacial dysmorphism, MIM# 614501; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2225 SMG9 Zornitza Stark gene: SMG9 was added
gene: SMG9 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list
Mode of inheritance for gene: SMG9 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SMG9 were set to 27018474; 31390136
Phenotypes for gene: SMG9 were set to Heart and brain malformation syndrome, MIM# 616920
Review for gene: SMG9 was set to GREEN
Added comment: Three unrelated families reported, severe congenital malformation syndrome, ID is part of the phenotype in survivors.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.2223 SMARCD2 Zornitza Stark gene: SMARCD2 was added
gene: SMARCD2 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list
Mode of inheritance for gene: SMARCD2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SMARCD2 were set to 26350204; 28369036
Phenotypes for gene: SMARCD2 were set to Specific granule deficiency 2, 617475 (includes global developmental delay in some patients)
Review for gene: SMARCD2 was set to AMBER
Added comment: Candidate ID gene in PMID:26350204 and developmental delay seen in 2 patients with SGD2 PMID:28369036.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.2219 PIGA Zornitza Stark reviewed gene: PIGA: Rating: GREEN; Mode of pathogenicity: None; Publications: 24706016, 24259184, 29159939; Phenotypes: Multiple congenital anomalies-hypotonia-seizures syndrome 2, MIM#300868; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Intellectual disability syndromic and non-syndromic v0.2219 WDR81 Zornitza Stark reviewed gene: WDR81: Rating: GREEN; Mode of pathogenicity: None; Publications: 21885617, 28556411, 28969387; Phenotypes: Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2, 610185, Hydrocephalus, congenital, 3, with brain anomalies, 617967; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2216 SLC9A9 Zornitza Stark reviewed gene: SLC9A9: Rating: RED; Mode of pathogenicity: None; Publications: 18621663, 31134136, 27123481, 26755066; Phenotypes: {?Autism susceptibility 16}, MIM# 613410; Mode of inheritance: None
Intellectual disability syndromic and non-syndromic v0.2213 SLC7A7 Zornitza Stark reviewed gene: SLC7A7: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Lysinuric protein intolerance, MIM# 222700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2209 SLC6A4 Zornitza Stark reviewed gene: SLC6A4: Rating: RED; Mode of pathogenicity: None; Publications: 31629822; Phenotypes: {Obsessive-compulsive disorder}, MIM# 164230, depression, alcohol dependence; Mode of inheritance: None
Intellectual disability syndromic and non-syndromic v0.2206 PNKP Zornitza Stark reviewed gene: PNKP: Rating: GREEN; Mode of pathogenicity: None; Publications: 23224214, 20118933; Phenotypes: Microcephaly, seizures, and developmental delay, MIM#613402; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2203 SLC25A24 Zornitza Stark reviewed gene: SLC25A24: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Fontaine progeroid syndrome, MIM#612289; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.2202 SLC25A19 Zornitza Stark changed review comment from: Bi-alllelic variants in this gene have been associated with a spectrum of phenotypes, ranging from a severe neonatal disorder in the Amish, with ID as part of the phenotype through to a neuropathy.; to: Bi-alllelic variants in this gene have been associated with a spectrum of phenotypes, ranging from a severe neonatal disorder in the Amish, with ID as part of the phenotype (founder effect) through to a neuropathy/disorder of episodic encephalopathy.
Intellectual disability syndromic and non-syndromic v0.2202 SLC25A19 Zornitza Stark edited their review of gene: SLC25A19: Changed rating: RED
Intellectual disability syndromic and non-syndromic v0.2201 SLC1A2 Zornitza Stark gene: SLC1A2 was added
gene: SLC1A2 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list
Mode of inheritance for gene: SLC1A2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SLC1A2 were set to 27476654; 28777935
Phenotypes for gene: SLC1A2 were set to Epileptic encephalopathy, early infantile, 41, MIM#617105; Intellectual disability
Review for gene: SLC1A2 was set to GREEN
gene: SLC1A2 was marked as current diagnostic
Added comment: Four unrelated individuals reported.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.2196 SHROOM4 Zornitza Stark reviewed gene: SHROOM4: Rating: AMBER; Mode of pathogenicity: None; Publications: 16249884, 26740508; Phenotypes: Stocco dos Santos X-linked mental retardation syndrome, 300434, Intellectual disability; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Intellectual disability syndromic and non-syndromic v0.2196 CHD2 Zornitza Stark Phenotypes for gene: CHD2 were changed from to Epileptic encephalopathy, childhood-onset (MIM # 615369)
Intellectual disability syndromic and non-syndromic v0.2194 INTS1 Zornitza Stark Phenotypes for gene: INTS1 were changed from to Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies, MIM# 618571
Intellectual disability syndromic and non-syndromic v0.2191 INTS1 Chern Lim reviewed gene: INTS1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28542170, 30622326, 31428919; Phenotypes: Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies, MIM# 618571; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2186 SACS Zornitza Stark reviewed gene: SACS: Rating: AMBER; Mode of pathogenicity: None; Publications: 28843771, 20876471, 28658676, 27871429; Phenotypes: Spastic ataxia, Charlevoix-Saguenay type, MIM# 270550; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2186 SOX3 Zornitza Stark Phenotypes for gene: SOX3 were changed from to Mental retardation, X-linked, with isolated growth hormone deficiency, MIM#300123; Panhypopituitarism, X-linked, MIM#312000
Intellectual disability syndromic and non-syndromic v0.2184 SOX3 Zornitza Stark Mode of pathogenicity for gene: SOX3 was changed from to Other
Intellectual disability syndromic and non-syndromic v0.2181 SOX3 Zornitza Stark edited their review of gene: SOX3: Changed rating: AMBER
Intellectual disability syndromic and non-syndromic v0.2181 SOX3 Zornitza Stark reviewed gene: SOX3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mental retardation, X-linked, with isolated growth hormone deficiency, MIM# 300123; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Intellectual disability syndromic and non-syndromic v0.2178 PUF60 Zornitza Stark reviewed gene: PUF60: Rating: GREEN; Mode of pathogenicity: None; Publications: 28327570; Phenotypes: Verheij syndrome, MIM# 615583; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.2178 SOX3 Chern Lim reviewed gene: SOX3: Rating: AMBER; Mode of pathogenicity: Other; Publications: 29175558, 30125608, 12428212, 15800844; Phenotypes: Mental retardation, X-linked, with isolated growth hormone deficiency, MIM#300123, Panhypopituitarism, X-linked, MIM#312000; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Intellectual disability syndromic and non-syndromic v0.2178 PUM1 Zornitza Stark edited their review of gene: PUM1: Changed rating: GREEN
Intellectual disability syndromic and non-syndromic v0.2177 PTRHD1 Zornitza Stark gene: PTRHD1 was added
gene: PTRHD1 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list
Mode of inheritance for gene: PTRHD1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PTRHD1 were set to 30398675; 27134041; 27753167; 29143421
Phenotypes for gene: PTRHD1 were set to Parkinsonism; Intellectual disability
Review for gene: PTRHD1 was set to GREEN
Added comment: Three unrelated families reported: two with homozygous missense variants; and one with truncating variant. Affected individuals have juvenile-onset parkinsonism and ID.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.2175 PTRH2 Zornitza Stark gene: PTRH2 was added
gene: PTRH2 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list
Mode of inheritance for gene: PTRH2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PTRH2 were set to 25574476; 28175314; 28328138; 25558065; 27129381
Phenotypes for gene: PTRH2 were set to Infantile-onset multisystem neurologic, endocrine, and pancreatic disease, MIM# 616263
Review for gene: PTRH2 was set to AMBER
Added comment: A spectrum of features associated with bi-allelic variants in this gene; however, ID only reported as a feature in two families.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.2170 PSAT1 Zornitza Stark reviewed gene: PSAT1: Rating: AMBER; Mode of pathogenicity: None; Publications: 26960553, 17436247, 25152457; Phenotypes: Phosphoserine aminotransferase deficiency, MIM# 610992, Neu-Laxova syndrome 2, MIM# 616038; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2170 PRRT2 Zornitza Stark Phenotypes for gene: PRRT2 were changed from Convulsions, familial infantile, with paroxysmal choreoathetosis, MIM# 602066; Episodic kinesigenic dyskinesia 1, MIM# 128200; Seizures, benign familial infantile, 2, MIM# 605751 to Convulsions, familial infantile, with paroxysmal choreoathetosis, MIM# 602066; Episodic kinesigenic dyskinesia 1, MIM# 128200; Seizures, benign familial infantile, 2, MIM# 605751; intellectual disability, autosomal recessive
Intellectual disability syndromic and non-syndromic v0.2168 PRRT2 Zornitza Stark Mode of inheritance for gene: PRRT2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2166 PRRT2 Zornitza Stark changed review comment from: ID is not part of the phenotype.; to: ID is not part of the phenotype for the mono allelic conditions; two families described with bi-allelic variants and more severe neurological phenotype, including ID.
Intellectual disability syndromic and non-syndromic v0.2166 PRRT2 Zornitza Stark edited their review of gene: PRRT2: Changed phenotypes: Convulsions, familial infantile, with paroxysmal choreoathetosis, MIM# 602066, Episodic kinesigenic dyskinesia 1, MIM# 128200, Seizures, benign familial infantile, 2, MIM# 605751, intellectual disability, autosomal recessive
Intellectual disability syndromic and non-syndromic v0.2166 PRRT2 Zornitza Stark edited their review of gene: PRRT2: Changed rating: AMBER; Changed publications: 23352743, 25595153, 23398397; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2166 PRRT2 Zornitza Stark Phenotypes for gene: PRRT2 were changed from to Convulsions, familial infantile, with paroxysmal choreoathetosis, MIM# 602066; Episodic kinesigenic dyskinesia 1, MIM# 128200; Seizures, benign familial infantile, 2, MIM# 605751
Intellectual disability syndromic and non-syndromic v0.2163 PRRT2 Zornitza Stark reviewed gene: PRRT2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Convulsions, familial infantile, with paroxysmal choreoathetosis, MIM# 602066, Episodic kinesigenic dyskinesia 1, MIM# 128200, Seizures, benign familial infantile, 2, MIM# 605751; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.2162 POU1F1 Zornitza Stark Mode of inheritance for gene: POU1F1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2160 POU1F1 Zornitza Stark reviewed gene: POU1F1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Pituitary hormone deficiency, combined, 1, MIM# 613038; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2159 POLR1C Zornitza Stark gene: POLR1C was added
gene: POLR1C was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list
Mode of inheritance for gene: POLR1C was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: POLR1C were set to 26151409
Phenotypes for gene: POLR1C were set to Leukodystrophy, hypomyelinating, 11, MIM# 616494
Review for gene: POLR1C was set to GREEN
Added comment: 8 unrelated individuals reported, ID is part of the phenotype.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.2157 PNP Zornitza Stark Deleted their comment
Intellectual disability syndromic and non-syndromic v0.2157 PNP Zornitza Stark edited their review of gene: PNP: Added comment: Neurological phenotype is predominantly spasticity rather than ID.; Changed rating: RED
Intellectual disability syndromic and non-syndromic v0.2156 PMPCA Zornitza Stark gene: PMPCA was added
gene: PMPCA was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list
Mode of inheritance for gene: PMPCA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PMPCA were set to 25808372; 26657514; 27148589; 30617178
Phenotypes for gene: PMPCA were set to Spinocerebellar ataxia, autosomal recessive 2, MIM# 213200
Review for gene: PMPCA was set to GREEN
Added comment: Seven families reported. Three had the same founder variant. ID observed in five of the affected families (includes the three with the same founder variant).
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.2155 GFER Zornitza Stark Phenotypes for gene: GFER were changed from to Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay (MIM #613076)
Intellectual disability syndromic and non-syndromic v0.2152 GFER Zornitza Stark reviewed gene: GFER: Rating: GREEN; Mode of pathogenicity: None; Publications: 28155230; Phenotypes: Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay (MIM #613076); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2151 RPIA Sebastian Lunke gene: RPIA was added
gene: RPIA was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review
Mode of inheritance for gene: RPIA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RPIA were set to 14988808; 10589548; 20499043; 28801340; 30088433
Phenotypes for gene: RPIA were set to Ribose 5-phosphate isomerase deficiency, MIM 608611
Review for gene: RPIA was set to GREEN
gene: RPIA was marked as current diagnostic
Added comment: From GEL: Three patients described in total, one of these with functional data:

Patient 1 with comp het missense and frameshift as well as functional data, early developmental delay, leukoencephalopathy, seizures with onset at 4 years, with subsequent neurologic regression and peripheral neuropathy

Patient 2 with missense, delayed early development, seizures and regression at the age of 7 with MRI white matter abnormalities

Patient 3 with comp het missense and canonical splice, clinical biochem corroboration ribitol and arabitol in urine demonstrated significant elevations (>20x), neonatal onset leukoencephalopathy and developmental delay
Sources: Expert Review
Intellectual disability syndromic and non-syndromic v0.2149 PLEKHG2 Zornitza Stark gene: PLEKHG2 was added
gene: PLEKHG2 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list
Mode of inheritance for gene: PLEKHG2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PLEKHG2 were set to 26539891; 24001768; 26573021
Phenotypes for gene: PLEKHG2 were set to Leukodystrophy and acquired microcephaly with or without dystonia, 616763
Review for gene: PLEKHG2 was set to AMBER
Added comment: Three families reported; however, two had the same homozygous variant (founder effect).
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.2147 PITRM1 Zornitza Stark gene: PITRM1 was added
gene: PITRM1 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list
Mode of inheritance for gene: PITRM1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PITRM1 were set to 26697887; 29764912; 29383861
Phenotypes for gene: PITRM1 were set to Ataxia; Intellectual disability
Review for gene: PITRM1 was set to GREEN
gene: PITRM1 was marked as current diagnostic
Added comment: Three unrelated families reported with bi-allelic variants in this gene.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.2145 PIK3C2A Zornitza Stark gene: PIK3C2A was added
gene: PIK3C2A was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list
Mode of inheritance for gene: PIK3C2A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PIK3C2A were set to 31034465
Phenotypes for gene: PIK3C2A were set to Oculoskeletodental syndrome, 618440
Review for gene: PIK3C2A was set to GREEN
Added comment: Three unrelated families, ID is part of the phenotype.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.2144 MECP2 Zornitza Stark Phenotypes for gene: MECP2 were changed from to Encephalopathy, neonatal severe 300673 XLR; Mental retardation, X-linked, syndromic 13 300055 XLR; Rett syndrome 312750 XLD
Intellectual disability syndromic and non-syndromic v0.2142 MECP2 Zornitza Stark Mode of inheritance for gene: MECP2 was changed from Unknown to Other
Intellectual disability syndromic and non-syndromic v0.2139 VARS Chirag Patel gene: VARS was added
gene: VARS was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list
Mode of inheritance for gene: VARS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: VARS were set to PubMed: 30755616, 30755602, 26539891, 29691655, 30275004
Phenotypes for gene: VARS were set to Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy; OMIM #617802
Review for gene: VARS was set to GREEN
Added comment: 14 families with 20 affected individuals
- homozygous missense or compound heterozygous mutations in VARS
- mutations segregated with the disorder in the families
- functional studies in some cases
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.2138 WDR4 Chirag Patel changed review comment from: Galloway-Mowat syndrome 6, OMIM #618347:

1 family with 2 sibs with GMS and compound heterozygous mutations in the WDR4 gene, segregated with the disorder in the family. Functional studies of the variants and studies of patient cells were not performed.

1 family with 1 child with GMS and compound heterozygous mutations in the WDR4 gene, segregated with the disorder in the family. Functional studies of the variants and studies of patient cells were not performed.

1 family with 4 sibs with GMS and homozygous splice site mutation in the WDR4 gene. Functional studies of the variant and studies of patient cells were not performed.



Microcephaly, growth deficiency, seizures, and brain malformations; OMIM #618346:

2 unrelated patients with intrauterine growth retardation, postnatal growth deficiency with severe microcephaly, and poor or absent psychomotor development. Testing found the same homozygous missense mutation in the WDR4 gene, which segregated with the disorder in both families. Studies of patient cells and modeling of the corresponding mutation in yeast showed that the mutation caused a significant reduction in m(7)G46 methylation of specific tRNAs species, particularly at higher temperatures. This was associated with a growth defect in yeast, thus offering a potential mechanism for the growth defects observed in patients with the mutation. The findings suggested that abnormal tRNA modification is a major contributor to disease pathogenesis.
Sources: Expert list; to: Galloway-Mowat syndrome 6, OMIM #618347:

1 family with 2 sibs with GMS and compound heterozygous mutations in the WDR4 gene, segregated with the disorder in the family. Functional studies of the variants and studies of patient cells were not performed.

1 family with 1 child with GMS and compound heterozygous mutations in the WDR4 gene, segregated with the disorder in the family. Functional studies of the variants and studies of patient cells were not performed.

1 family with 4 sibs with GMS and homozygous splice site mutation in the WDR4 gene. Functional studies of the variant and studies of patient cells were not performed.
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Microcephaly, growth deficiency, seizures, and brain malformations; OMIM #618346:

2 unrelated patients with intrauterine growth retardation, postnatal growth deficiency with severe microcephaly, and poor or absent psychomotor development. Testing found the same homozygous missense mutation in the WDR4 gene, which segregated with the disorder in both families. Studies of patient cells and modeling of the corresponding mutation in yeast showed that the mutation caused a significant reduction in m(7)G46 methylation of specific tRNAs species, particularly at higher temperatures. This was associated with a growth defect in yeast, thus offering a potential mechanism for the growth defects observed in patients with the mutation. The findings suggested that abnormal tRNA modification is a major contributor to disease pathogenesis.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.2137 WDR4 Chirag Patel gene: WDR4 was added
gene: WDR4 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list
Mode of inheritance for gene: WDR4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: WDR4 were set to PubMed: 26416026, 30079490, 29597095, 28617965
Phenotypes for gene: WDR4 were set to Galloway-Mowat syndrome 6, OMIM #618347; Microcephaly, growth deficiency, seizures, and brain malformations, OMIM #618346
Review for gene: WDR4 was set to GREEN
Added comment: Galloway-Mowat syndrome 6, OMIM #618347:

1 family with 2 sibs with GMS and compound heterozygous mutations in the WDR4 gene, segregated with the disorder in the family. Functional studies of the variants and studies of patient cells were not performed.

1 family with 1 child with GMS and compound heterozygous mutations in the WDR4 gene, segregated with the disorder in the family. Functional studies of the variants and studies of patient cells were not performed.

1 family with 4 sibs with GMS and homozygous splice site mutation in the WDR4 gene. Functional studies of the variant and studies of patient cells were not performed.



Microcephaly, growth deficiency, seizures, and brain malformations; OMIM #618346:

2 unrelated patients with intrauterine growth retardation, postnatal growth deficiency with severe microcephaly, and poor or absent psychomotor development. Testing found the same homozygous missense mutation in the WDR4 gene, which segregated with the disorder in both families. Studies of patient cells and modeling of the corresponding mutation in yeast showed that the mutation caused a significant reduction in m(7)G46 methylation of specific tRNAs species, particularly at higher temperatures. This was associated with a growth defect in yeast, thus offering a potential mechanism for the growth defects observed in patients with the mutation. The findings suggested that abnormal tRNA modification is a major contributor to disease pathogenesis.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.2135 XIST Chirag Patel reviewed gene: XIST: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Intellectual disability syndromic and non-syndromic v0.2134 YAP1 Chirag Patel reviewed gene: YAP1: Rating: AMBER; Mode of pathogenicity: None; Publications: PubMed: 24462371; Phenotypes: Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation, OMIM #120433; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.2133 WFS1 Chirag Patel reviewed gene: WFS1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Wolfram syndrome 1, OMIM #222300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2132 USP18 Chirag Patel reviewed gene: USP18: Rating: GREEN; Mode of pathogenicity: None; Publications: PubMed: 31940699, 12833411, 27325888; Phenotypes: Pseudo-TORCH syndrome 2, OMIM #617397; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2132 MECP2 Michelle Torres reviewed gene: MECP2: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301670; Phenotypes: Encephalopathy, neonatal severe 300673 XLR, Mental retardation, X-linked syndromic, Lubs type 300260 XLR, Mental retardation, X-linked, syndromic 13 300055 XLR, Rett syndrome 312750 XLD, Rett syndrome, atypical 312750 XLD, Rett syndrome, preserved speech variant 312750 XLD, {Autism susceptibility, X-linked 3} 300496 XL; Mode of inheritance: Other; Current diagnostic: yes
Intellectual disability syndromic and non-syndromic v0.2131 UPB1 Chirag Patel reviewed gene: UPB1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Beta-ureidopropionase deficiency, OMIM #613161; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2130 UFC1 Chirag Patel gene: UFC1 was added
gene: UFC1 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list
Mode of inheritance for gene: UFC1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: UFC1 were set to PubMed: 29868776
Phenotypes for gene: UFC1 were set to Neurodevelopmental disorder with spasticity and poor growth; OMIM #618076
Review for gene: UFC1 was set to GREEN
Added comment: 3 consanguineous Saudi families with neurodevelopmental disorder with spasticity and poor growth with a homozygous missense mutation in the UFC1 gene. An unrelated Swiss boy with same phenotype found to have a different homozygous mutation in the UFC1 gene. Total 8 patients from 4 families.

The mutations segregated with the disorder in the families. In vitro functional expression studies showed that both mutations caused impaired thioester binding with UFM1 (610553). Patient cells also showed decreased UFC1 intermediate formation with UFM1. The decrease in function was consistent with a hypomorphic allele, and Nahorski et al. (2018) suggested that complete loss of function would be embryonic lethal.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.2129 UNC13A Zornitza Stark Phenotypes for gene: UNC13A were changed from to Congenital myasthenia; dyskinesia; autism; developmental delay
Intellectual disability syndromic and non-syndromic v0.2128 UNC13A Zornitza Stark Mode of inheritance for gene: UNC13A was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2126 UNC13A Zornitza Stark reviewed gene: UNC13A: Rating: RED; Mode of pathogenicity: None; Publications: 27648472, 28192369; Phenotypes: Congenital myasthenia, dyskinesia, autism, developmental delay; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2126 PIGY Zornitza Stark reviewed gene: PIGY: Rating: AMBER; Mode of pathogenicity: None; Publications: 26293662; Phenotypes: Hyperphosphatasia with mental retardation syndrome 6, MIM# 616809; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2125 PIGP Zornitza Stark gene: PIGP was added
gene: PIGP was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list
Mode of inheritance for gene: PIGP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PIGP were set to 28334793; 31139695
Phenotypes for gene: PIGP were set to Epileptic encephalopathy, early infantile, 55, 617599
Review for gene: PIGP was set to AMBER
Added comment: Two unrelated families reported.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.2123 ZBTB11 Chirag Patel reviewed gene: ZBTB11: Rating: AMBER; Mode of pathogenicity: None; Publications: PubMed: 29893856; Phenotypes: Intellectual developmental disorder, autosomal recessive 69, OMIM #618383; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2122 ZBTB16 Chirag Patel reviewed gene: ZBTB16: Rating: AMBER; Mode of pathogenicity: None; Publications: PubMed: 18611983; Phenotypes: Skeletal defects, genital hypoplasia, and mental retardation, OMIM #612447; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2122 PPP1R12A Zornitza Stark edited their review of gene: PPP1R12A: Changed rating: GREEN; Changed publications: 31883643
Intellectual disability syndromic and non-syndromic v0.2122 Bryony Thompson Panel types changed to Victorian Clinical Genetics Services; Genetic Health Queensland; Royal Melbourne Hospital; Rare Disease
Intellectual disability syndromic and non-syndromic v0.2121 ZBTB24 Chirag Patel reviewed gene: ZBTB24: Rating: GREEN; Mode of pathogenicity: None; Publications: PubMed: 21906047, 21596365, 23486536; Phenotypes: Immunodeficiency-centromeric instability-facial anomalies syndrome 2, OMIM # 614069; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2121 SPTBN4 Bryony Thompson gene: SPTBN4 was added
gene: SPTBN4 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: SPTBN4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SPTBN4 were set to 28540413; 29861105
Phenotypes for gene: SPTBN4 were set to Neurodevelopmental disorder with hypotonia, neuropathy, and deafness MIM#617519
Review for gene: SPTBN4 was set to GREEN
Added comment: 6 families with a severe neurological syndrome that includes congenital hypotonia, intellectual disability, and motor axonal and auditory neuropathy
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.2119 ZFHX3 Chirag Patel reviewed gene: ZFHX3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Intellectual disability syndromic and non-syndromic v0.2118 ZNF81 Chirag Patel reviewed gene: ZNF81: Rating: AMBER; Mode of pathogenicity: None; Publications: PubMed: 15121780; Phenotypes: mental retardation; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Intellectual disability syndromic and non-syndromic v0.2117 ZIC1 Chirag Patel gene: ZIC1 was added
gene: ZIC1 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list
Mode of inheritance for gene: ZIC1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ZIC1 were set to PMID: 26340333, 30391508
Phenotypes for gene: ZIC1 were set to Structural brain anomalies with impaired intellectual development and craniosynostosis; OMIM #618736 
Review for gene: ZIC1 was set to GREEN
Added comment: 5 families with heterozygous mutations located in the final (third) exon of ZIC1 who have a distinct phenotype in which severe craniosynostosis, specifically involving the coronal sutures, and variable learning disability are the most characteristic features. The location of the nonsense mutations predicts escape of mutant ZIC1 transcripts from nonsense-mediated decay, which was confirmed in a cell line from an affected individual. Both nonsense and missense mutations are associated with altered and/or enhanced expression of a target gene, engrailed-2, in a Xenopus embryo assay. Analysis of mouse embryos revealed a localized domain of Zic1 expression at embryonic days 11.5-12.5 in a region overlapping the supraorbital regulatory center, which patterns the coronal suture.

2 sibs with BAIDCS, Vandervore et al. (2018) identified heterozygosity for a frameshift mutation in the ZIC1 gene. Neither parent had evidence of the mutation by whole-exome sequencing, suggesting that gonadal mosaicism for the mutation was present in one of the parents. Expression of the mutated allele was detected in patient fibroblasts by RT-PCR, evidence that the mutant mRNA did not undergo nonsense-mediated decay and probably generates an abnormal protein.


Also heterozygous deletions of ZIC1 on chromosome 3q25.1 are associated with Dandy-Walker malformation of the cerebellum. Loss of the orthologous Zic1 gene in the mouse causes cerebellar hypoplasia and vertebral defects.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.2115 ZNF148 Chirag Patel gene: ZNF148 was added
gene: ZNF148 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list
Mode of inheritance for gene: ZNF148 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ZNF148 were set to PMID: 27964749
Phenotypes for gene: ZNF148 were set to Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies; OMIM #617260
Review for gene: ZNF148 was set to GREEN
Added comment: 4 patients with de novo heterozygous nonsense or frameshift mutations in the ZNF148 gene. Patients characterized by underdevelopment of the corpus callosum, mild to moderate developmental delay and ID, variable microcephaly or mild macrocephaly, short stature, feeding problems, facial dysmorphisms, and cardiac and renal malformations. No functional evidence.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.2111 EML1 Zornitza Stark reviewed gene: EML1: Rating: GREEN; Mode of pathogenicity: None; Publications: 31710781; Phenotypes: Band heterotopia (MIM# 600348); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2108 WAC Melanie Marty edited their review of gene: WAC: Changed phenotypes: Desanto-Shinawi syndrome 616708
Intellectual disability syndromic and non-syndromic v0.2108 WAC Melanie Marty reviewed gene: WAC: Rating: GREEN; Mode of pathogenicity: None; Publications: 26264232; Phenotypes: Desanto-Shinawi syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Intellectual disability syndromic and non-syndromic v0.2108 GLS Zornitza Stark edited their review of gene: GLS: Added comment: In addition, single individual also reported with de novo, GoF variant with profound ID, cataract.; Changed mode of pathogenicity: Other; Changed publications: 30970188, 30239721; Changed phenotypes: Global developmental delay, progressive ataxia, and elevated glutamine, MIM# 618412; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2108 PIGH Zornitza Stark edited their review of gene: PIGH: Changed publications: 29573052, 29603516
Intellectual disability syndromic and non-syndromic v0.2106 PIGH Zornitza Stark edited their review of gene: PIGH: Changed rating: GREEN
Intellectual disability syndromic and non-syndromic v0.2106 PIGH Zornitza Stark gene: PIGH was added
gene: PIGH was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list
Mode of inheritance for gene: PIGH was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PIGH were set to 29573052; 29603510
Phenotypes for gene: PIGH were set to Glycosylphosphatidylinositol biosynthesis defect 17, MIM#618010
Review for gene: PIGH was set to AMBER
Added comment: Two unrelated families reported.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.2105 PIGC Zornitza Stark reviewed gene: PIGC: Rating: GREEN; Mode of pathogenicity: None; Publications: 27694521; Phenotypes: Glycosylphosphatidylinositol biosynthesis defect 16, MIM# 617816; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2105 PIEZO2 Zornitza Stark Phenotypes for gene: PIEZO2 were changed from Marden-Walker syndrome, MIM# 248700; Arthrogryposis, distal, type 3, MIM# 114300 to Marden-Walker syndrome, MIM# 248700; Arthrogryposis, distal, type 3, MIM# 114300
Intellectual disability syndromic and non-syndromic v0.2103 PIEZO2 Zornitza Stark Phenotypes for gene: PIEZO2 were changed from Marden-Walker syndrome, MIM# 248700; Arthrogryposis, distal, type 3, MIM# 114300 to Marden-Walker syndrome, MIM# 248700; Arthrogryposis, distal, type 3, MIM# 114300
Intellectual disability syndromic and non-syndromic v0.2103 PIEZO2 Zornitza Stark Phenotypes for gene: PIEZO2 were changed from to Marden-Walker syndrome, MIM# 248700; Arthrogryposis, distal, type 3, MIM# 114300
Intellectual disability syndromic and non-syndromic v0.2101 PIEZO2 Zornitza Stark reviewed gene: PIEZO2: Rating: AMBER; Mode of pathogenicity: None; Publications: 24726473; Phenotypes: Marden-Walker syndrome, MIM# 248700, Arthrogryposis, distal, type 3, MIM# 114300; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.2101 PHACTR1 Zornitza Stark Phenotypes for gene: PHACTR1 were changed from Seizures:Epileptic encephalopathy, early infantile, 70, MIM# 618298; PHACTR1-associated neurodevelopment disorder to Epileptic encephalopathy, early infantile, 70, MIM# 618298; PHACTR1-associated neurodevelopment disorder
Intellectual disability syndromic and non-syndromic v0.2099 PHACTR1 Zornitza Stark gene: PHACTR1 was added
gene: PHACTR1 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list
Mode of inheritance for gene: PHACTR1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PHACTR1 were set to 30256902; 28135719; 23033978; 27457812
Phenotypes for gene: PHACTR1 were set to Seizures:Epileptic encephalopathy, early infantile, 70, MIM# 618298; PHACTR1-associated neurodevelopment disorder
Penetrance for gene: PHACTR1 were set to Incomplete
Mode of pathogenicity for gene: PHACTR1 was set to Other
Review for gene: PHACTR1 was set to GREEN
gene: PHACTR1 was marked as current diagnostic
Added comment: 6 unrelated individuals reported altogether with variants in this gene. Several as part of large cohorts, so limited variant and patient characterisation. One variant reported by de Ligt et al is present in the population (4 individuals) suggesting reduced penetrance. However, functional data (including mouse model) for this and other variants exerting a dominant negative effect.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.2094 PET100 Zornitza Stark reviewed gene: PET100: Rating: GREEN; Mode of pathogenicity: None; Publications: 24462369, 25293719, 31406627; Phenotypes: Mitochondrial complex IV deficiency, MIM# 220110; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2092 PDHB Zornitza Stark edited their review of gene: PDHB: Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2087 PCDH10 Zornitza Stark reviewed gene: PCDH10: Rating: RED; Mode of pathogenicity: None; Publications: 27567313, 18621663; Phenotypes: Autism; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.2087 PAX7 Zornitza Stark Phenotypes for gene: PAX7 were changed from to Myopathy, congenital, progressive, with scoliosis, MIM# 618578
Intellectual disability syndromic and non-syndromic v0.2084 PAX7 Zornitza Stark reviewed gene: PAX7: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Myopathy, congenital, progressive, with scoliosis, MIM# 618578; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2080 ORC1 Zornitza Stark reviewed gene: ORC1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Meier-Gorlin syndrome 1, MIM# 224690; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2080 LYST Zornitza Stark edited their review of gene: LYST: Changed rating: AMBER
Intellectual disability syndromic and non-syndromic v0.2080 LYST Zornitza Stark changed review comment from: Review in light of Genomics England curator assessments: More commonly progressive movement disorder; rare reports of true IDincluding in a patient where both parents had ID, raising possibility of alternative cause. Downgrade to Amber.; to: Review in light of Genomics England curator assessments: More commonly progressive movement disorder; rare reports of true ID including in a patient where both parents had ID, raising possibility of alternative cause. Downgrade to Amber.
Intellectual disability syndromic and non-syndromic v0.2079 LYST Zornitza Stark commented on gene: LYST: Review in light of Genomics England curator assessments: More commonly progressive movement disorder; rare reports of true IDincluding in a patient where both parents had ID, raising possibility of alternative cause. Downgrade to Amber.
Intellectual disability syndromic and non-syndromic v0.2079 LRP5 Zornitza Stark Phenotypes for gene: LRP5 were changed from Exudative vitreoretinopathy 4, MIM# 601813; Hyperostosis, endosteal, MIM# 144750; Osteopetrosis, autosomal dominant 1, MIM# 607634; Osteoporosis-pseudoglioma syndrome, MIM# 259770; Osteosclerosis, MIM# 144750; Polycystic liver disease 4 with or without kidney cysts, MIM# 617875; van Buchem disease, type 2 607636 to Exudative vitreoretinopathy 4, MIM# 601813; Hyperostosis, endosteal, MIM# 144750; Osteopetrosis, autosomal dominant 1, MIM# 607634; Osteoporosis-pseudoglioma syndrome, MIM# 259770; Osteosclerosis, MIM# 144750; Polycystic liver disease 4 with or without kidney cysts, MIM# 617875; van Buchem disease, type 2 607636
Intellectual disability syndromic and non-syndromic v0.2079 LRP5 Zornitza Stark Phenotypes for gene: LRP5 were changed from to Exudative vitreoretinopathy 4, MIM# 601813; Hyperostosis, endosteal, MIM# 144750; Osteopetrosis, autosomal dominant 1, MIM# 607634; Osteoporosis-pseudoglioma syndrome, MIM# 259770; Osteosclerosis, MIM# 144750; Polycystic liver disease 4 with or without kidney cysts, MIM# 617875; van Buchem disease, type 2 607636
Intellectual disability syndromic and non-syndromic v0.2079 LRP5 Zornitza Stark Mode of inheritance for gene: LRP5 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2078 LRP5 Zornitza Stark Mode of inheritance for gene: LRP5 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2077 LRP5 Zornitza Stark reviewed gene: LRP5: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Exudative vitreoretinopathy 4, MIM# 601813, Hyperostosis, endosteal, MIM# 144750, Osteopetrosis, autosomal dominant 1, MIM# 607634, Osteoporosis-pseudoglioma syndrome, MIM# 259770, Osteosclerosis, MIM# 144750, Polycystic liver disease 4 with or without kidney cysts, MIM# 617875, van Buchem disease, type 2 607636; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2076 LNPK Zornitza Stark Phenotypes for gene: LNPK were changed from to Neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum, MIM# 618090
Intellectual disability syndromic and non-syndromic v0.2073 LNPK Zornitza Stark reviewed gene: LNPK: Rating: AMBER; Mode of pathogenicity: None; Publications: 30032983; Phenotypes: Neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum, MIM# 618090; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2073 LMBRD1 Zornitza Stark Phenotypes for gene: LMBRD1 were changed from to Methylmalonic aciduria and homocystinuria, cblF type, MIM# 277380
Intellectual disability syndromic and non-syndromic v0.2071 LMBRD1 Zornitza Stark reviewed gene: LMBRD1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Methylmalonic aciduria and homocystinuria, cblF type, MIM# 277380; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2070 LIPT2 Zornitza Stark gene: LIPT2 was added
gene: LIPT2 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list
Mode of inheritance for gene: LIPT2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LIPT2 were set to 28757203
Phenotypes for gene: LIPT2 were set to Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities, MIM#617668
Review for gene: LIPT2 was set to AMBER
Added comment: Three individuals from two unrelated families; profound ID.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.2067 LAS1L Zornitza Stark reviewed gene: LAS1L: Rating: ; Mode of pathogenicity: None; Publications: 25644381, 25644381; Phenotypes: Wilson-Turner syndrome, MIM# 309585; Mode of inheritance: None
Intellectual disability syndromic and non-syndromic v0.2064 KIF4A Zornitza Stark reviewed gene: KIF4A: Rating: RED; Mode of pathogenicity: None; Publications: 24812067; Phenotypes: Mental retardation, X-linked 100, MIM# 300923; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Intellectual disability syndromic and non-syndromic v0.2063 KIF2A Zornitza Stark gene: KIF2A was added
gene: KIF2A was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list
Mode of inheritance for gene: KIF2A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KIF2A were set to 23603762; 21594994; 27747449; 27896282
Phenotypes for gene: KIF2A were set to Cortical dysplasia, complex, with other brain malformations 3, 615411
Review for gene: KIF2A was set to GREEN
gene: KIF2A was marked as current diagnostic
Added comment: Five unrelated individuals reported.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.2061 KCNT2 Zornitza Stark gene: KCNT2 was added
gene: KCNT2 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list
Mode of inheritance for gene: KCNT2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KCNT2 were set to 29069600; 29740868
Phenotypes for gene: KCNT2 were set to Epileptic encephalopathy, early infantile 57, 617771
Mode of pathogenicity for gene: KCNT2 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Review for gene: KCNT2 was set to GREEN
gene: KCNT2 was marked as current diagnostic
Added comment: Three unrelated individuals reported.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.2059 KCNK4 Zornitza Stark gene: KCNK4 was added
gene: KCNK4 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list
Mode of inheritance for gene: KCNK4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KCNK4 were set to 30290154
Phenotypes for gene: KCNK4 were set to Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome 618381
Mode of pathogenicity for gene: KCNK4 was set to Other
Review for gene: KCNK4 was set to GREEN
Added comment: Three unrelated individuals reported with a distinctive syndromic ID condition and de novo variants (two of the individuals had the same variant). Likely GoF as KO mice do not share the phenotype.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.2054 KATNAL2 Zornitza Stark reviewed gene: KATNAL2: Rating: RED; Mode of pathogenicity: None; Publications: 22495311, 21572417, 22495309, 22495306; Phenotypes: Autism; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.2050 ITGA7 Zornitza Stark reviewed gene: ITGA7: Rating: AMBER; Mode of pathogenicity: None; Publications: 9590299; Phenotypes: Muscular dystrophy, congenital, due to ITGA7 deficiency, MIM# 613204; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2047 ISCA2 Zornitza Stark reviewed gene: ISCA2: Rating: GREEN; Mode of pathogenicity: None; Publications: 25539947, 29297947, 29122497, 29359243, 31279336, 31106229; Phenotypes: Multiple mitochondrial dysfunctions syndrome 4 616370; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2047 INTS8 Zornitza Stark Phenotypes for gene: INTS8 were changed from to Neurodevelopmental disorder with cerebellar hypoplasia and spasticity, MIM# 618572
Intellectual disability syndromic and non-syndromic v0.2043 INTS8 Zornitza Stark reviewed gene: INTS8: Rating: RED; Mode of pathogenicity: None; Publications: 28542170; Phenotypes: Neurodevelopmental disorder with cerebellar hypoplasia and spasticity, MIM# 618572; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2040 INSR Zornitza Stark reviewed gene: INSR: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Leprechaunism, MIM# 246200, Rabson-Mendenhall syndrome, MIM# 262190; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2038 IGBP1 Zornitza Stark Phenotypes for gene: IGBP1 were changed from Corpus callosum, agenesis of, with mental retardation, ocular coloboma and micrognathia, MIM# 300472 to Corpus callosum, agenesis of, with mental retardation, ocular coloboma and micrognathia, MIM# 300472
Intellectual disability syndromic and non-syndromic v0.2037 IGBP1 Zornitza Stark Phenotypes for gene: IGBP1 were changed from to Corpus callosum, agenesis of, with mental retardation, ocular coloboma and micrognathia, MIM# 300472
Intellectual disability syndromic and non-syndromic v0.2035 IGBP1 Zornitza Stark reviewed gene: IGBP1: Rating: RED; Mode of pathogenicity: None; Publications: 14556245; Phenotypes: Corpus callosum, agenesis of, with mental retardation, ocular coloboma and micrognathia, MIM# 300472; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Intellectual disability syndromic and non-syndromic v0.2035 IQSEC2 Zornitza Stark reviewed gene: IQSEC2: Rating: GREEN; Mode of pathogenicity: None; Publications: 31415821, 20473311, 30842726; Phenotypes: Mental retardation, X-linked 1/78, MIM#309530; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Intellectual disability syndromic and non-syndromic v0.2034 HTT Zornitza Stark gene: HTT was added
gene: HTT was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list
Mode of inheritance for gene: HTT was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HTT were set to 26740508; 27329733
Phenotypes for gene: HTT were set to Lopes-Maciel-Rodan syndrome, 617435; LOMARS; Intellectual disability
Review for gene: HTT was set to AMBER
Added comment: Two unrelated families reported with bi-allelic variants in this gene and a neurodevelopmental phenotype.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.2033 HIST1H4C Zornitza Stark Phenotypes for gene: HIST1H4C were changed from Growth delay, microcephaly and intellectual disability to Growth delay, microcephaly and intellectual disability
Intellectual disability syndromic and non-syndromic v0.2032 HIST1H4C Zornitza Stark Phenotypes for gene: HIST1H4C were changed from to Growth delay, microcephaly and intellectual disability
Intellectual disability syndromic and non-syndromic v0.2029 HIST1H4C Zornitza Stark reviewed gene: HIST1H4C: Rating: AMBER; Mode of pathogenicity: None; Publications: 28920961; Phenotypes: Growth delay, microcephaly and intellectual disability; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.2024 HERC2 Zornitza Stark reviewed gene: HERC2: Rating: AMBER; Mode of pathogenicity: None; Publications: 23243086, 23065719; Phenotypes: Mental retardation, autosomal recessive 38 615516; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2021 HAX1 Zornitza Stark reviewed gene: HAX1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Neutropenia, severe congenital 3, autosomal recessive, MIM# 610738; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2017 HARS2 Zornitza Stark reviewed gene: HARS2: Rating: RED; Mode of pathogenicity: None; Publications: 21464306, 27650058, 31827252, 31486067; Phenotypes: Perrault syndrome 2, MIM# 614926; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2013 GTF3C3 Zornitza Stark reviewed gene: GTF3C3: Rating: GREEN; Mode of pathogenicity: None; Publications: 28940097, 28097321, 30552426; Phenotypes: Global developmental delay, Intellectual disability, Seizures; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2013 KIF11 Zornitza Stark Phenotypes for gene: KIF11 were changed from to Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation MIM#152950
Intellectual disability syndromic and non-syndromic v0.2011 GSS Zornitza Stark Phenotypes for gene: GSS were changed from Glutathione synthetase deficiency, MIM# 266130 to Glutathione synthetase deficiency, MIM# 266130
Intellectual disability syndromic and non-syndromic v0.2010 GSS Zornitza Stark Phenotypes for gene: GSS were changed from to Glutathione synthetase deficiency, MIM# 266130
Intellectual disability syndromic and non-syndromic v0.2008 GSS Zornitza Stark reviewed gene: GSS: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Glutathione synthetase deficiency, MIM# 266130; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2007 GRIN2D Zornitza Stark gene: GRIN2D was added
gene: GRIN2D was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list
Mode of inheritance for gene: GRIN2D was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: GRIN2D were set to 27616483; 30280376
Phenotypes for gene: GRIN2D were set to Epileptic encephalopathy, early infantile, 46, MIM# 617162; intellectual disability
Mode of pathogenicity for gene: GRIN2D was set to Other
Review for gene: GRIN2D was set to GREEN
gene: GRIN2D was marked as current diagnostic
Added comment: Five unrelated individuals reported, two with recurrent variant (NM_000836.2:c.1999G>A or p.Val667Ile). GoF postulated as mechanism.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.2006 KIF11 Ee Ming Wong reviewed gene: KIF11: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 27212378, 24281367; Phenotypes: 1. Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation (OMIM), 2. Familial exudative vitreoretinopathy (FEVR) (PMID: 27212378); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.2002 GPHN Zornitza Stark edited their review of gene: GPHN: Added comment: Only two families reported with bi-allelic variants. Also note reports of mono-allelic deletions associated with ID/autism/SZ.; Changed rating: AMBER; Changed publications: 22040219, 26613940, 24561070, 23393157; Changed phenotypes: Molybdenum cofactor deficiency C, MIM#615501, intellectual disability; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2001 GORAB Zornitza Stark edited their review of gene: GORAB: Added comment: Reviewed against assessment by GEL curation team: agree ID is not a predominant feature of this condition.; Changed rating: AMBER
Intellectual disability syndromic and non-syndromic v0.2001 HDAC4 Zornitza Stark Phenotypes for gene: HDAC4 were changed from Brachydactyly mental retardation syndrome; Brachydactyly without intellectual disability to Brachydactyly mental retardation syndrome; Brachydactyly without intellectual disability
Intellectual disability syndromic and non-syndromic v0.2000 HDAC4 Zornitza Stark Phenotypes for gene: HDAC4 were changed from to Brachydactyly mental retardation syndrome; Brachydactyly without intellectual disability
Intellectual disability syndromic and non-syndromic v0.1997 HDAC4 Zornitza Stark reviewed gene: HDAC4: Rating: AMBER; Mode of pathogenicity: None; Publications: 24715439, 20691407, 31209962; Phenotypes: Brachydactyly mental retardation syndrome, Brachydactyly without intellectual disability; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1992 UBR4 Zornitza Stark reviewed gene: UBR4: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1992 UBR4 Belinda Chong reviewed gene: UBR4: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 29062094, 23982692, 28600779; Phenotypes: Episodic ataxia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1991 GMNN Zornitza Stark gene: GMNN was added
gene: GMNN was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list
Mode of inheritance for gene: GMNN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: GMNN were set to 26637980
Phenotypes for gene: GMNN were set to Meier-Gorlin syndrome 6, MIM# 616835
Review for gene: GMNN was set to AMBER
Added comment: Two of the three reported individuals had ID.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.1989 TRAPPC4 Zornitza Stark gene: TRAPPC4 was added
gene: TRAPPC4 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review
Mode of inheritance for gene: TRAPPC4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TRAPPC4 were set to 31794024
Phenotypes for gene: TRAPPC4 were set to intellectual disability; epilepsy; spasticity; microcephaly
Review for gene: TRAPPC4 was set to GREEN
Added comment: Seven individuals from three unrelated families reported; recurrent splice site variant (hg19:chr11:g.118890966A>G; TRAPPC4: NM_016146.5; c.454+3A>G), not a founder variant.
Sources: Expert Review
Intellectual disability syndromic and non-syndromic v0.1987 SNX27 Zornitza Stark gene: SNX27 was added
gene: SNX27 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review
Mode of inheritance for gene: SNX27 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SNX27 were set to 25894286; 31721175; 21300787; 23524343
Phenotypes for gene: SNX27 were set to intellectual disability; seizures
Review for gene: SNX27 was set to GREEN
Added comment: Three unrelated families and animal model.
Sources: Expert Review
Intellectual disability syndromic and non-syndromic v0.1983 NSF Zornitza Stark gene: NSF was added
gene: NSF was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: NSF was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: NSF were set to 31675180
Phenotypes for gene: NSF were set to Seizures; EEG with burst suppression; Global developmental delay; Intellectual disability
Review for gene: NSF was set to AMBER
Added comment: Two individuals reported with de novo missense variants in this gene.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1981 KAT8 Zornitza Stark gene: KAT8 was added
gene: KAT8 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: KAT8 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KAT8 were set to 31794431
Phenotypes for gene: KAT8 were set to Intellectual disability; seizures; autism; dysmorphic features
Review for gene: KAT8 was set to GREEN
Added comment: Eight unrelated individuals reported with de novo variants in this gene and a mouse model. All variants missense, in the chromobarrel domain or the acetyltransferase domain; three individuals had the same variant p.Tyr90Cys . One more individual reported with bi-allelic variants: one missense and one frameshift; carrier parents were normal suggesting that may be haploinsuffiency is not the mechanism.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1980 TRAPPC9 Ain Roesley reviewed gene: TRAPPC9: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 30853973; Phenotypes: Intellectual disability, autosomal recessive 13 (MIM# 613192); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1978 GLRA1 Zornitza Stark Mode of inheritance for gene: GLRA1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1977 GLRA1 Zornitza Stark reviewed gene: GLRA1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Hyperekplexia 1, MIM# 149400; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1977 GJB1 Zornitza Stark edited their review of gene: GJB1: Added comment: PMID 26385972 reports cognitive impairment in 4 adult cases and PMID 23279342 reports a proband and her sister with severe neuropathy and subclinical cognitive impairment, while the proband's brother showed severe cognitive impairment and mild neuropathy. Based on the current evidence, ID does not appear to be a prominent or consistent part of the phenotype of this neuropathy.; Changed publications: 26385972, 23279342
Intellectual disability syndromic and non-syndromic v0.1977 GEMIN4 Zornitza Stark Phenotypes for gene: GEMIN4 were changed from to Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities, MIM# 617913
Intellectual disability syndromic and non-syndromic v0.1975 GEMIN4 Zornitza Stark reviewed gene: GEMIN4: Rating: AMBER; Mode of pathogenicity: None; Publications: 25558065, 30237576; Phenotypes: Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities, MIM# 617913; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1972 GBA Zornitza Stark reviewed gene: GBA: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Gaucher disease, type II 230900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1972 GAN Zornitza Stark Phenotypes for gene: GAN were changed from to Giant axonal neuropathy-1, MIM# 256850
Intellectual disability syndromic and non-syndromic v0.1969 GAN Zornitza Stark reviewed gene: GAN: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Giant axonal neuropathy-1, MIM# 256850; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1968 GABRA2 Zornitza Stark gene: GABRA2 was added
gene: GABRA2 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list
Mode of inheritance for gene: GABRA2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: GABRA2 were set to 29422393; 29961870; 31032849; 31032848
Phenotypes for gene: GABRA2 were set to Epileptic encephalopathy, early infantile, 78, 618557
Review for gene: GABRA2 was set to GREEN
gene: GABRA2 was marked as current diagnostic
Added comment: Six unrelated families reported, ID is part of the phenotype.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.1966 GABBR2 Zornitza Stark gene: GABBR2 was added
gene: GABBR2 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list
Mode of inheritance for gene: GABBR2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: GABBR2 were set to 29100083; 28061363; 28135719; 28856709; 29369404; 29377213
Phenotypes for gene: GABBR2 were set to Neurodevelopmental disorder with poor language and loss of hand skills, 617903
Review for gene: GABBR2 was set to GREEN
gene: GABBR2 was marked as current diagnostic
Added comment: At least 7 unrelated individuals reported, missense variants only, A707T and A567T (recurrent).
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.1965 HNRNPU Zornitza Stark Phenotypes for gene: HNRNPU were changed from to Epileptic encephalopathy, early infantile, 54, MIM#617391
Intellectual disability syndromic and non-syndromic v0.1962 HNRNPU Zornitza Stark reviewed gene: HNRNPU: Rating: GREEN; Mode of pathogenicity: None; Publications: 28944577, 28393272; Phenotypes: Epileptic encephalopathy, early infantile, 54, MIM#617391; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1958 G6PC3 Zornitza Stark reviewed gene: G6PC3: Rating: RED; Mode of pathogenicity: None; Publications: 20717171; Phenotypes: Neutropenia, severe congenital 4, autosomal recessive, MIM# 612541; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1955 EHMT1 Zornitza Stark reviewed gene: EHMT1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Kleefstra syndrome 1 (MIM#610253); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1955 FTO Zornitza Stark Phenotypes for gene: FTO were changed from Growth retardation, developmental delay, facial dysmorphism, MIM# 612938 to Growth retardation, developmental delay, facial dysmorphism, MIM# 612938
Intellectual disability syndromic and non-syndromic v0.1953 FTO Zornitza Stark Phenotypes for gene: FTO were changed from to Growth retardation, developmental delay, facial dysmorphism, MIM# 612938
Intellectual disability syndromic and non-syndromic v0.1950 FTO Zornitza Stark reviewed gene: FTO: Rating: ; Mode of pathogenicity: None; Publications: 19559399, 26378117; Phenotypes: Growth retardation, developmental delay, facial dysmorphism, MIM# 612938; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1949 FRRS1L Zornitza Stark gene: FRRS1L was added
gene: FRRS1L was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list
Mode of inheritance for gene: FRRS1L was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FRRS1L were set to 27236917; 27239025
Phenotypes for gene: FRRS1L were set to Epileptic encephalopathy, early infantile, 37, MIM#616981
Review for gene: FRRS1L was set to GREEN
Added comment: Five unrelated individuals reported.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.1948 FIBP Zornitza Stark Phenotypes for gene: FIBP were changed from Thauvin-Robinet-Faivre syndrome, MIM#617107 to Thauvin-Robinet-Faivre syndrome, MIM#617107
Intellectual disability syndromic and non-syndromic v0.1947 FIBP Zornitza Stark Phenotypes for gene: FIBP were changed from to Thauvin-Robinet-Faivre syndrome, MIM#617107
Intellectual disability syndromic and non-syndromic v0.1945 FIBP Zornitza Stark reviewed gene: FIBP: Rating: AMBER; Mode of pathogenicity: None; Publications: 26660953, 27183861; Phenotypes: Thauvin-Robinet-Faivre syndrome, MIM#617107; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1942 FGFR3 Zornitza Stark Phenotypes for gene: FGFR3 were changed from to CATSHL syndrome 610474; Hypochondroplasia 146000; SADDAN 616482; Muenke syndrome 602849; Thanatophoric dysplasia, type I 187600
Intellectual disability syndromic and non-syndromic v0.1941 FGFR3 Zornitza Stark Mode of inheritance for gene: FGFR3 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1940 FGFR3 Zornitza Stark reviewed gene: FGFR3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: CATSHL syndrome 610474, Hypochondroplasia 146000, SADDAN 616482, Muenke syndrome 602849, Thanatophoric dysplasia, type I 187600; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1940 FGFR1 Zornitza Stark reviewed gene: FGFR1: Rating: GREEN; Mode of pathogenicity: None; Publications: 23812909; Phenotypes: Hartsfield syndrome, MIM# 615465; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1936 FDXR Zornitza Stark Phenotypes for gene: FDXR were changed from to Auditory neuropathy and optic atrophy, MIM# 617717
Intellectual disability syndromic and non-syndromic v0.1933 FGF14 Zornitza Stark reviewed gene: FGF14: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Spinocerebellar ataxia 27, MIM# 609307; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1933 FDXR Zornitza Stark reviewed gene: FDXR: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Auditory neuropathy and optic atrophy, MIM# 617717; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1930 FANCG Zornitza Stark reviewed gene: FANCG: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Fanconi anemia, complementation group G, MIM# 614082; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1928 FANCD2 Zornitza Stark edited their review of gene: FANCD2: Added comment: Clinical presentation is typically with congenital abnormalities/BMF. Only ~10% have ID as part of the phenotype.; Changed rating: AMBER
Intellectual disability syndromic and non-syndromic v0.1927 FANCB Zornitza Stark reviewed gene: FANCB: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Fanconi anemia, complementation group B, MIM# 300514; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1923 EPB41L1 Zornitza Stark reviewed gene: EPB41L1: Rating: RED; Mode of pathogenicity: None; Publications: 21376300, 26539891, 25961944; Phenotypes: Mental retardation, autosomal dominant 11 614257; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1920 EMC1 Zornitza Stark gene: EMC1 was added
gene: EMC1 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list
Mode of inheritance for gene: EMC1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EMC1 were set to 26942288; 29271071
Phenotypes for gene: EMC1 were set to Cerebellar atrophy, visual impairment, and psychomotor retardation, MIM# 616875
Review for gene: EMC1 was set to GREEN
gene: EMC1 was marked as current diagnostic
Added comment: Four unrelated families with bi-allelic variants in this gene reported. Single individual with heterozygous variant: insufficient evidence at present for mono allelic variants causing disease.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.1918 EFNB1 Zornitza Stark Mode of inheritance for gene: EFNB1 was changed from Unknown to Other
Intellectual disability syndromic and non-syndromic v0.1916 EFNB1 Zornitza Stark reviewed gene: EFNB1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Craniofrontonasal dysplasia, MIM# 304110; Mode of inheritance: Other
Intellectual disability syndromic and non-syndromic v0.1914 ATAD3A Zornitza Stark Mode of inheritance for gene: ATAD3A was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1913 ATAD3A Zornitza Stark reviewed gene: ATAD3A: Rating: GREEN; Mode of pathogenicity: None; Publications: 27640307, 32004445; Phenotypes: Harel-Yoon syndrome, MIM# 617183; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1910 DPM3 Zornitza Stark Phenotypes for gene: DPM3 were changed from to Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 15 612937
Intellectual disability syndromic and non-syndromic v0.1908 DPM3 Zornitza Stark reviewed gene: DPM3: Rating: RED; Mode of pathogenicity: None; Publications: 19576565, 28803818, 30931530, 31469168; Phenotypes: Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 15 612937; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1904 DPM2 Zornitza Stark reviewed gene: DPM2: Rating: AMBER; Mode of pathogenicity: None; Publications: 23109149; Phenotypes: Congenital disorder of glycosylation, type Iu, MIM#615042; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1904 DNAJC3 Zornitza Stark Phenotypes for gene: DNAJC3 were changed from to Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus, MIM# 616192
Intellectual disability syndromic and non-syndromic v0.1900 DNAJC3 Zornitza Stark reviewed gene: DNAJC3: Rating: RED; Mode of pathogenicity: None; Publications: 25466870, 28940199; Phenotypes: Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus, MIM# 616192; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1896 DLG4 Zornitza Stark edited their review of gene: DLG4: Added comment: Four unrelated individuals reported.; Changed rating: GREEN; Changed publications: 27479843, 25123844, 19617690, 29460436, 23020937, 28135719; Changed phenotypes: Intellectual disability, Marfanoid habitus; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Set current diagnostic: yes
Intellectual disability syndromic and non-syndromic v0.1895 DLAT Zornitza Stark edited their review of gene: DLAT: Added comment: Only two families with ID reported; third individual had paroxysmal dyskinesia.; Changed rating: AMBER; Changed publications: 16049940, 29093066
Intellectual disability syndromic and non-syndromic v0.1893 DIP2B Zornitza Stark Mode of pathogenicity for gene: DIP2B was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Intellectual disability syndromic and non-syndromic v0.1889 DIP2B Zornitza Stark reviewed gene: DIP2B: Rating: AMBER; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 17236128; Phenotypes: Mental retardation, FRA12A type, MIM# 136630; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1888 DENND5A Zornitza Stark gene: DENND5A was added
gene: DENND5A was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list
Mode of inheritance for gene: DENND5A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DENND5A were set to 27431290; 27866705
Phenotypes for gene: DENND5A were set to Epileptic encephalopathy, early infantile, 49, MIM# 617281
Review for gene: DENND5A was set to GREEN
Added comment: Four unrelated families, ID is part of the phenotype.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.1884 CWF19L1 Zornitza Stark gene: CWF19L1 was added
gene: CWF19L1 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list
Mode of inheritance for gene: CWF19L1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CWF19L1 were set to 25361784; 15981765; 26197978; 27016154; 30167849
Phenotypes for gene: CWF19L1 were set to Spinocerebellar ataxia, autosomal recessive 17, MIM#616127; intellectual disability, developmental delay
Review for gene: CWF19L1 was set to GREEN
gene: CWF19L1 was marked as current diagnostic
Added comment: Three unrelated families reported, ID is part of the phenotype.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.1882 CUX1 Zornitza Stark gene: CUX1 was added
gene: CUX1 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list
Mode of inheritance for gene: CUX1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CUX1 were set to 25059644; 20510857; 30014507
Phenotypes for gene: CUX1 were set to Global developmental delay with or without impaired intellectual development, MIM#618330
Review for gene: CUX1 was set to GREEN
gene: CUX1 was marked as current diagnostic
Added comment: Nine individuals from 7 families reported. Three individuals had normal intelligence at school age despite significant early developmental delay.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.1878 CRBN Zornitza Stark reviewed gene: CRBN: Rating: AMBER; Mode of pathogenicity: None; Publications: 15557513, 28143899; Phenotypes: Mental retardation, autosomal recessive 2, MIM# 607417; Mode of inheritance: None
Intellectual disability syndromic and non-syndromic v0.1877 COQ9 Zornitza Stark edited their review of gene: COQ9: Added comment: Reviewed again: severe neonatal presentation with metabolic decompensation, including neurological features such as abnormal tone and seizures, but not intellectual disability as such. Downgrade to Amber on this panel.; Changed rating: AMBER
Intellectual disability syndromic and non-syndromic v0.1876 COQ2 Zornitza Stark edited their review of gene: COQ2: Added comment: On further review of the literature, there is poor documentation of intellectual disability as such in the molecularly confirmed cases. Presentation is much more commonly with renal or multi-system disease.; Changed rating: AMBER
Intellectual disability syndromic and non-syndromic v0.1872 COLEC10 Zornitza Stark reviewed gene: COLEC10: Rating: RED; Mode of pathogenicity: None; Publications: 28301481; Phenotypes: 3MC syndrome 3, MIM# 248340; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1872 COL1A2 Zornitza Stark Phenotypes for gene: COL1A2 were changed from to Ehlers-Danlos syndrome, arthrochalasia type, 2, MIM# 617821; Ehlers-Danlos syndrome, cardiac valvular type, MIM# 225320; Osteogenesis imperfecta, type II, MIM# 166210; Osteogenesis imperfecta, type III, MIM# 259420; Osteogenesis imperfecta, type IV, MIM# 166220
Intellectual disability syndromic and non-syndromic v0.1871 COL1A2 Zornitza Stark Mode of inheritance for gene: COL1A2 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1869 COL1A2 Zornitza Stark reviewed gene: COL1A2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Ehlers-Danlos syndrome, arthrochalasia type, 2, MIM# 617821, Ehlers-Danlos syndrome, cardiac valvular type, MIM# 225320, Osteogenesis imperfecta, type II, MIM# 166210, Osteogenesis imperfecta, type III, MIM# 259420, Osteogenesis imperfecta, type IV, MIM# 166220; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1866 COA3 Zornitza Stark reviewed gene: COA3: Rating: RED; Mode of pathogenicity: None; Publications: 25604084; Phenotypes: Mitochondrial complex IV deficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1864 CNTN3 Zornitza Stark reviewed gene: CNTN3: Rating: RED; Mode of pathogenicity: None; Publications: 28600779; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1860 CLPP Zornitza Stark reviewed gene: CLPP: Rating: RED; Mode of pathogenicity: None; Publications: 23541340; Phenotypes: Perrault syndrome 3, MIM# 614129; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1856 CHRNA4 Zornitza Stark reviewed gene: CHRNA4: Rating: RED; Mode of pathogenicity: None; Publications: 14623738; Phenotypes: Epilepsy, nocturnal frontal lobe, 1, MIM# 600513; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1856 CHD1 Zornitza Stark edited their review of gene: CHD1: Added comment: Possible dominant negative mechanism: reported variants are missense, an individual with a deletion did not have a neurological phenotype.; Changed mode of pathogenicity: Other
Intellectual disability syndromic and non-syndromic v0.1855 CEP104 Zornitza Stark gene: CEP104 was added
gene: CEP104 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list
Mode of inheritance for gene: CEP104 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CEP104 were set to 26477546
Phenotypes for gene: CEP104 were set to Joubert syndrome 25, MIM# 616781
Review for gene: CEP104 was set to GREEN
Added comment: Three unrelated individuals reported, ID is part of the phenotype.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.1851 CDKN1C Zornitza Stark reviewed gene: CDKN1C: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: IMAGE syndrome, MIM# 614732; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1847 CDK5R1 Zornitza Stark reviewed gene: CDK5R1: Rating: RED; Mode of pathogenicity: None; Publications: 30733659; Phenotypes: Intellectual disability, autism; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1844 CCDC88A Zornitza Stark reviewed gene: CCDC88A: Rating: GREEN; Mode of pathogenicity: None; Publications: 26917597, 30392057; Phenotypes: PEHO syndrome-like, MIM# 617507; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1843 CARS2 Zornitza Stark gene: CARS2 was added
gene: CARS2 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list
Mode of inheritance for gene: CARS2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CARS2 were set to 30139652; 25787132
Phenotypes for gene: CARS2 were set to Combined oxidative phosphorylation deficiency 27, MIM#616672
Review for gene: CARS2 was set to GREEN
Added comment: Three unrelated individuals described with this mitochondrial disorder, ID is part of the phenotype.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.1839 CANT1 Zornitza Stark reviewed gene: CANT1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Desbuquois dysplasia 1, MIM# 251450; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1837 KIF1A Zornitza Stark Added comment: Comment when marking as ready: Monoallelic variants associated with ID; bi-allelic variants associated with neuropathy/spastic paraplegia phenotypes.
Intellectual disability syndromic and non-syndromic v0.1835 KIF1A Zornitza Stark Mode of pathogenicity for gene: KIF1A was changed from to Other
Intellectual disability syndromic and non-syndromic v0.1833 ACSL4 Zornitza Stark Added comment: Comment when marking as ready: At least three unrelated individuals reported.
Intellectual disability syndromic and non-syndromic v0.1831 ACSL4 Zornitza Stark Mode of inheritance for gene: ACSL4 was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Intellectual disability syndromic and non-syndromic v0.1830 CAMTA1 Zornitza Stark Phenotypes for gene: CAMTA1 were changed from to Cerebellar ataxia, nonprogressive, with mental retardation (614756 AD)
Intellectual disability syndromic and non-syndromic v0.1827 HUWE1 Zornitza Stark Mode of inheritance for gene: HUWE1 was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Intellectual disability syndromic and non-syndromic v0.1826 HUWE1 Zornitza Stark reviewed gene: HUWE1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mental retardation, X-linked syndromic, Turner type; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Intellectual disability syndromic and non-syndromic v0.1823 EBP Zornitza Stark Added comment: Comment when marking as ready: CDP lethal in males (unless mosaic) and females generally have normal intellectual development. Hypomorphic variants in males result in MEND, which has ID as a feature (carrier females for these variants generally asymptomatic).
Intellectual disability syndromic and non-syndromic v0.1822 EBP Zornitza Stark Deleted their comment
Intellectual disability syndromic and non-syndromic v0.1822 EBP Zornitza Stark Mode of inheritance for gene: EBP was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Intellectual disability syndromic and non-syndromic v0.1821 EBP Zornitza Stark reviewed gene: EBP: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Chondrodysplasia punctata, X-linked dominant MIM#302960, Conradi-Hunermann syndrome, MEND syndrome, MIM#300960; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Intellectual disability syndromic and non-syndromic v0.1821 ALDH3A2 Zornitza Stark Phenotypes for gene: ALDH3A2 were changed from to Sjogren-Larsson syndrome MIM#270200; spasticity; ichthyosis; intellectual disability
Intellectual disability syndromic and non-syndromic v0.1818 ALDH3A2 Zornitza Stark reviewed gene: ALDH3A2: Rating: GREEN; Mode of pathogenicity: None; Publications: 31273323; Phenotypes: Sjogren-Larsson syndrome MIM#270200, spasticity, ichthyosis, intellectual disability; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1818 ABHD5 Zornitza Stark Phenotypes for gene: ABHD5 were changed from to Chanarin-Dorfman syndrome MIM#275630; neutral lipid storage disease with ichthyosis; non-bullous congenital ichthyosiform erythroderma
Intellectual disability syndromic and non-syndromic v0.1815 ABHD5 Zornitza Stark reviewed gene: ABHD5: Rating: GREEN; Mode of pathogenicity: None; Publications: 30795549; Phenotypes: Chanarin-Dorfman syndrome MIM#275630, neutral lipid storage disease with ichthyosis, non-bullous congenital ichthyosiform erythroderma; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1815 TUBGCP6 Zornitza Stark Phenotypes for gene: TUBGCP6 were changed from to Microcephaly and chorioretinopathy, autosomal recessive, 1, MIM#251270
Intellectual disability syndromic and non-syndromic v0.1812 TUBGCP6 Zornitza Stark reviewed gene: TUBGCP6: Rating: GREEN; Mode of pathogenicity: None; Publications: 25344692, 22279524; Phenotypes: Microcephaly and chorioretinopathy, autosomal recessive, 1, MIM#251270; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1812 GNAS Zornitza Stark Phenotypes for gene: GNAS were changed from to Pseudohypoparathyroidism Ia (103580); Pseudohypoparathyroidism Ib (603233); Pseudohypoparathyroidism Ic (612462); Pseudopseudohypoparathyroidism (612463)
Intellectual disability syndromic and non-syndromic v0.1807 IRF2BPL Zornitza Stark Phenotypes for gene: IRF2BPL were changed from Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures, MIM#618088 to Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures, MIM#618088
Intellectual disability syndromic and non-syndromic v0.1807 IRF2BPL Zornitza Stark Phenotypes for gene: IRF2BPL were changed from to Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures, MIM#618088
Intellectual disability syndromic and non-syndromic v0.1805 KIF1A Michelle Torres reviewed gene: KIF1A: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID: 28970574, PMID: 22258533, PMID 31488895, PMID 31512412; Phenotypes: 1. Mental retardation, autosomal dominant 9 614255 AD, 2. Neuropathy, hereditary sensory, type IIC 614213 AR, 3. Spastic paraplegia 30, autosomal recessive 610357 AR, 4. Hereditary spastic paraplegia, AD (PMID 31488895), 5. Rett syndrome (typical) AD (PMID 31512412); Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1805 ACSL4 Michelle Torres reviewed gene: ACSL4: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID:12525535; Phenotypes: 1. Mental retardation, X-linked 63 300387 XLD; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Intellectual disability syndromic and non-syndromic v0.1805 CAMTA1 Michelle Torres reviewed gene: CAMTA1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cerebellar ataxia, nonprogressive, with mental retardation (614756 AD); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1805 LAMA2 Michelle Torres reviewed gene: LAMA2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 30055037; Phenotypes: 1) Muscular dystrophy, congenital, merosin deficient or partially deficient, 607855 AR 2), Muscular dystrophy, limb-girdle, autosomal recessive 23, 618138 AR, 3 LAMA2-related muscular dystrophy (suggested by PMID: 30055037); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1804 IRF2BPL Zornitza Stark reviewed gene: IRF2BPL: Rating: GREEN; Mode of pathogenicity: None; Publications: 30057031; Phenotypes: Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures, MIM#618088; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1801 PHF8 Zornitza Stark reviewed gene: PHF8: Rating: GREEN; Mode of pathogenicity: None; Publications: 17661819, 17594395, 16199551; Phenotypes: Mental retardation syndrome, X-linked, Siderius type, MIM#300263; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Intellectual disability syndromic and non-syndromic v0.1801 IARS Zornitza Stark Phenotypes for gene: IARS were changed from to Growth retardation, impaired intellectual development, hypotonia, and hepatopathy, MIM#617093
Intellectual disability syndromic and non-syndromic v0.1798 IARS Zornitza Stark reviewed gene: IARS: Rating: GREEN; Mode of pathogenicity: None; Publications: 27426735; Phenotypes: Growth retardation, impaired intellectual development, hypotonia, and hepatopathy, MIM#617093; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1795 SOX5 Zornitza Stark reviewed gene: SOX5: Rating: GREEN; Mode of pathogenicity: None; Publications: 31578471; Phenotypes: Lamb-Shaffer syndrome, MIM#616803; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1795 GNAS Michelle Torres reviewed gene: GNAS: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 29072892; Phenotypes: 1. ACTH-independent macronodular adrenal hyperplasia (219080) Somatic Mutations, 2. McCune-Albright syndrome, somatic, mosaic (174800), 3. Osseous heteroplasia, progressive (166350) AD, 4. Pituitary adenoma 3, multiple types, somatic (617686), 5. Pseudohypoparathyroidism Ia (103580) AD, 6. Pseudohypoparathyroidism Ib (603233) AD, 7. Pseudohypoparathyroidism Ic (612462) AD, 8. Pseudopseudohypoparathyroidism (612463) AD; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Intellectual disability syndromic and non-syndromic v0.1795 GNAS Michelle Torres Deleted their review
Intellectual disability syndromic and non-syndromic v0.1795 GNAS Michelle Torres reviewed gene: GNAS: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 29072892; Phenotypes: 1. ACTH-independent macronodular adrenal hyperplasia (219080) Somatic Mutations, 2. McCune-Albright syndrome, somatic, mosaic (174800), 3. Osseous heteroplasia, progressive (166350) AD, 4. Pituitary adenoma 3, multiple types, somatic (617686), 5. Pseudohypoparathyroidism Ia (103580) AD, 6. Pseudohypoparathyroidism Ib (603233) AD, 7. Pseudohypoparathyroidism Ic (612462) AD, 8. Pseudopseudohypoparathyroidism (612463) AD; Mode of inheritance: None
Intellectual disability syndromic and non-syndromic v0.1795 MYT1L Michelle Torres reviewed gene: MYT1L: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mental retardation, autosomal dominant 39 616521 AD; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1795 GNAO1 Zornitza Stark Phenotypes for gene: GNAO1 were changed from Epileptic encephalopathy, early infantile, 17; Neurodevelopmental disorder with involuntary movements to Epileptic encephalopathy, early infantile, 17; Neurodevelopmental disorder with involuntary movements
Intellectual disability syndromic and non-syndromic v0.1794 GNAO1 Zornitza Stark Phenotypes for gene: GNAO1 were changed from to Epileptic encephalopathy, early infantile, 17; Neurodevelopmental disorder with involuntary movements
Intellectual disability syndromic and non-syndromic v0.1792 GNAO1 Zornitza Stark Mode of pathogenicity for gene: GNAO1 was changed from to Other
Intellectual disability syndromic and non-syndromic v0.1790 GNAO1 Zornitza Stark reviewed gene: GNAO1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 28747448, 30682224; Phenotypes: Epileptic encephalopathy, early infantile, 17, Neurodevelopmental disorder with involuntary movements; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1789 CAD Zornitza Stark gene: CAD was added
gene: CAD was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list
Mode of inheritance for gene: CAD was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CAD were set to 25678555; 28007989; 30914295
Phenotypes for gene: CAD were set to Epileptic encephalopathy, early infantile, 50, MIM# MIM 616457
Review for gene: CAD was set to GREEN
gene: CAD was marked as current diagnostic
Added comment: Four unrelated families (two with same variant and Roma background, likely founder).
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.1784 CACNG2 Zornitza Stark reviewed gene: CACNG2: Rating: RED; Mode of pathogenicity: None; Publications: 21376300; Phenotypes: Mental retardation, autosomal dominant 10, MIM#614256; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1780 CLCNKA Zornitza Stark edited their review of gene: CLCNKA: Added comment: Two families reported, and note digenic inheritance for Bartter postulated. PMID: 15044642 - Schlingmann et al 2004 - in a child with a child with renal salt wasting and deafness, they identified both a homozygous deletion of the CLCNKB gene and a homozygous trp80-to-cys mutation in the CLCNKA gene (W80C). PubMed: 18310267- Nozu et al 2008 - 2-year-old Japanese girl with a severe form of Bartter syndrome with sensorineural deafness. Parents were nonconsanguineous. They found 2 heterozygous mutations in the CLCNKA and CLCNKB genes on the paternal allele, and a 12-kb deletion involving portions of the CLCNKA and CLCNKB genes on the maternal allele. Neither parent was clinically affected.

ID has been described for Bartter, but since gene-disease association for Bartter itself is not well established, demote to Red.; Changed rating: RED
Intellectual disability syndromic and non-syndromic v0.1780 PPM1D Ain Roesley reviewed gene: PPM1D: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 28343630, 31916397, 30795918, 29758292; Phenotypes: Jansen de Vries syndrome (MIM #617450); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1779 CACNA2D2 Zornitza Stark gene: CACNA2D2 was added
gene: CACNA2D2 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list
Mode of inheritance for gene: CACNA2D2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CACNA2D2 were set to 23339110; 24358150; 30410802; 29997391; 31402629; 11487633; 11756448; 4177347; 14660671; 15331424
Phenotypes for gene: CACNA2D2 were set to Cerebellar atrophy with seizures and variable developmental delay, MIM#618501
Review for gene: CACNA2D2 was set to GREEN
Added comment: Multiple affected individuals reported; DD/ID is variable but present in most.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.1776 CA5A Zornitza Stark reviewed gene: CA5A: Rating: RED; Mode of pathogenicity: None; Publications: 26913920; Phenotypes: Hyperammonemia due to carbonic anhydrase VA deficiency, MIM# 615751; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1775 C8orf37 Zornitza Stark gene: C8orf37 was added
gene: C8orf37 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list
Mode of inheritance for gene: C8orf37 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: C8orf37 were set to 26854863; 27008867
Phenotypes for gene: C8orf37 were set to Bardet-Biedl syndrome 21, MIM#617406
Review for gene: C8orf37 was set to AMBER
Added comment: Two unrelated individuals reported with BBS; note gene has an association with retinal ciliopathies.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.1771 C2CD3 Zornitza Stark reviewed gene: C2CD3: Rating: GREEN; Mode of pathogenicity: None; Publications: 30097616, 27094867, 26477546, 24997988; Phenotypes: Orofaciodigital syndrome XIV, MIM# 615948; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1771 BSND Zornitza Stark edited their review of gene: BSND: Added comment: Downgrade to Amber after review against GEL panel; ID not a consistent/predominant feature of Bartter syndrome.; Changed rating: AMBER
Intellectual disability syndromic and non-syndromic v0.1771 BRIP1 Zornitza Stark reviewed gene: BRIP1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Fanconi anemia, complementation group J, MIM# 609054; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1769 BMPER Zornitza Stark edited their review of gene: BMPER: Added comment: Perinatal lethal skeletal dysplasia, not appropriate for this panel.; Changed rating: RED
Intellectual disability syndromic and non-syndromic v0.1769 BIN1 Zornitza Stark Phenotypes for gene: BIN1 were changed from Centronuclear myopathy 2, MIM# 255200 to Centronuclear myopathy 2, MIM# 255200
Intellectual disability syndromic and non-syndromic v0.1768 BIN1 Zornitza Stark Phenotypes for gene: BIN1 were changed from to Centronuclear myopathy 2, MIM# 255200
Intellectual disability syndromic and non-syndromic v0.1766 BIN1 Zornitza Stark reviewed gene: BIN1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Centronuclear myopathy 2, MIM# 255200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1764 ATP6V1A Zornitza Stark gene: ATP6V1A was added
gene: ATP6V1A was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list
Mode of inheritance for gene: ATP6V1A was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: ATP6V1A were set to 29668857; 28065471
Phenotypes for gene: ATP6V1A were set to Epileptic encephalopathy, infantile or early childhood, 3 618012; Cutis laxa, autosomal recessive, type IID 617403
Mode of pathogenicity for gene: ATP6V1A was set to Other
Review for gene: ATP6V1A was set to GREEN
gene: ATP6V1A was marked as current diagnostic
Added comment: Both mono-allelic and bi-allelic variants associated with ID, evidence for both LoF and GoF for the mono-allelic variants.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.1760 ATP1A2 Zornitza Stark reviewed gene: ATP1A2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Alternating hemiplegia of childhood 1, MIM# 104290; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1756 MADD Sue White reviewed gene: MADD: Rating: GREEN; Mode of pathogenicity: None; Publications: 28940097; Phenotypes: intellectual disability; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1756 Zornitza Stark Panel types changed to Victorian Clinical Genetics Services; Genetic Health Queensland; Rare Disease
Intellectual disability syndromic and non-syndromic v0.1752 ASMT Zornitza Stark reviewed gene: ASMT: Rating: RED; Mode of pathogenicity: None; Publications: 21251267; Phenotypes: ; Mode of inheritance: None
Intellectual disability syndromic and non-syndromic v0.1746 ARHGEF6 Zornitza Stark reviewed gene: ARHGEF6: Rating: RED; Mode of pathogenicity: None; Publications: 11017088; Phenotypes: MENTAL RETARDATION X-LINKED TYPE 46; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Intellectual disability syndromic and non-syndromic v0.1745 AR Zornitza Stark reviewed gene: AR: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Spinal and bulbar muscular atrophy of Kennedy, MIM# 313200; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Intellectual disability syndromic and non-syndromic v0.1744 ANK3 Zornitza Stark Mode of inheritance for gene: ANK3 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1743 ANK3 Zornitza Stark Mode of inheritance for gene: ANK3 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1742 ANK3 Zornitza Stark reviewed gene: ANK3: Rating: RED; Mode of pathogenicity: None; Publications: 23390136, 28687526; Phenotypes: Mental retardation, autosomal recessive, 37 615493; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1739 ALX4 Zornitza Stark reviewed gene: ALX4: Rating: AMBER; Mode of pathogenicity: None; Publications: 19409524; Phenotypes: Frontonasal dysplasia 2, MIM# 613451; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1738 ALX3 Zornitza Stark edited their review of gene: ALX3: Added comment: Majority have normal intellectual function, demote to Amber.; Changed rating: AMBER
Intellectual disability syndromic and non-syndromic v0.1737 ALG9 Zornitza Stark reviewed gene: ALG9: Rating: GREEN; Mode of pathogenicity: None; Publications: 28932688; Phenotypes: Congenital disorder of glycosylation, type Il, MIM#608776; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1737 ALG2 Zornitza Stark Phenotypes for gene: ALG2 were changed from Myasthenic syndrome, congenital, 14, with tubular aggregates, MIM# 616228; Congenital disorder of glycosylation, type Ii, MIM# 607906 to Myasthenic syndrome, congenital, 14, with tubular aggregates, MIM# 616228; Congenital disorder of glycosylation, type Ii, MIM# 607906
Intellectual disability syndromic and non-syndromic v0.1736 ALG2 Zornitza Stark Phenotypes for gene: ALG2 were changed from to Myasthenic syndrome, congenital, 14, with tubular aggregates, MIM# 616228; Congenital disorder of glycosylation, type Ii, MIM# 607906
Intellectual disability syndromic and non-syndromic v0.1733 ALG2 Zornitza Stark reviewed gene: ALG2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Myasthenic syndrome, congenital, 14, with tubular aggregates, MIM# 616228, Congenital disorder of glycosylation, type Ii, MIM# 607906; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1731 CACNA1D Zornitza Stark reviewed gene: CACNA1D: Rating: GREEN; Mode of pathogenicity: Other; Publications: 31921405, 28472301, 25620733; Phenotypes: Primary aldosteronism, seizures, and neurologic abnormalities, MIM# 615474, intellectual disability, autism, epilepsy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1728 ALDOB Zornitza Stark edited their review of gene: ALDOB: Added comment: ID is not an intrinsic feature of this condition; most reported individuals have had normal cognition; Changed rating: RED
Intellectual disability syndromic and non-syndromic v0.1727 CTBP1 Sebastian Lunke gene: CTBP1 was added
gene: CTBP1 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list
Mode of inheritance for gene: CTBP1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CTBP1 were set to 27094857; 28955726; 31041561
Phenotypes for gene: CTBP1 were set to Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome, 617915
gene: CTBP1 was marked as current diagnostic
Added comment: From GEL: There are 12 individuals reported from 3 papers (2 papers from the same group). All 12 individuals have the same heterozygous missense variant (R331W in NM_001012614.1; R342W in NM_001328.2). It is a de novo variant in all cases except one where it's inherited from a somatic parent. The phenotype of all 12 is summarised in Table 1 of PMID:31041561. Global DD is a consistent feature (varying severity). ID is recorded in several patients. Developmental motor regression recorded in 4 patients (2 of which also had cognitive regression). Authors note that healthy individuals with heterozygous LOF alleles have been reported.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.1727 CTBP1 Sebastian Lunke gene: CTBP1 was added
gene: CTBP1 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list
Mode of inheritance for gene: CTBP1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CTBP1 were set to 27094857; 28955726; 31041561
Phenotypes for gene: CTBP1 were set to Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome, 617915
gene: CTBP1 was marked as current diagnostic
Added comment: From GEL: There are 12 individuals reported from 3 papers (2 papers from the same group). All 12 individuals have the same heterozygous missense variant (R331W in NM_001012614.1; R342W in NM_001328.2). It is a de novo variant in all cases except one where it's inherited from a somatic parent. The phenotype of all 12 is summarised in Table 1 of PMID:31041561. Global DD is a consistent feature (varying severity). ID is recorded in several patients. Developmental motor regression recorded in 4 patients (2 of which also had cognitive regression). Authors note that healthy individuals with heterozygous LOF alleles have been reported.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.1725 AHCY Zornitza Stark edited their review of gene: AHCY: Changed publications: 31957987, 27671891, 30121674, 28779239
Intellectual disability syndromic and non-syndromic v0.1724 AGO1 Zornitza Stark gene: AGO1 was added
gene: AGO1 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list
Mode of inheritance for gene: AGO1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: AGO1 were set to 30213762; 22495306; 23020937; 25363768; 25356899; 27620904; 29346770; 28135719
Phenotypes for gene: AGO1 were set to Intellectual disability; autism
Review for gene: AGO1 was set to GREEN
Added comment: Multiple individuals reported with de novo variants in this gene, most as part of large ID cohorts so phenotypic information is scarce; however, given large number I have rated as Green.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.1722 CNOT2 Sebastian Lunke gene: CNOT2 was added
gene: CNOT2 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list
Mode of inheritance for gene: CNOT2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CNOT2 were set to 31512373; 31145527; 28135719
Phenotypes for gene: CNOT2 were set to Intellectual developmental disorder with nasal speech, dysmorphic facies, and variable skeletal anomalies 618608
Review for gene: CNOT2 was set to GREEN
gene: CNOT2 was marked as current diagnostic
Added comment: From GEL: Three independent patients with non-sense or intra-genic deletions
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.1719 AGL Zornitza Stark reviewed gene: AGL: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Glycogen storage disease IIIa, MIM# 232400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1718 CNOT1 Sebastian Lunke gene: CNOT1 was added
gene: CNOT1 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list
Mode of inheritance for gene: CNOT1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CNOT1 were set to 31006510; 21679367; 31006513
Phenotypes for gene: CNOT1 were set to Holoprosencephaly 12, with or without pancreatic agenesis 618500
Review for gene: CNOT1 was set to GREEN
gene: CNOT1 was marked as current diagnostic
Added comment: From GEL: More than three independent families previously described
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.1717 ACAT1 Zornitza Stark Deleted their comment
Intellectual disability syndromic and non-syndromic v0.1714 CCDC88C Sebastian Lunke reviewed gene: CCDC88C: Rating: GREEN; Mode of pathogenicity: None; Publications: 23042809, 21031079; Phenotypes: Hydrocephalus, nonsyndromic, autosomal recessive 236600 AR; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Intellectual disability syndromic and non-syndromic v0.1712 CCDC47 Sebastian Lunke gene: CCDC47 was added
gene: CCDC47 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list
Mode of inheritance for gene: CCDC47 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CCDC47 were set to 30401460
Phenotypes for gene: CCDC47 were set to Trichohepatoneurodevelopmental syndrome, 618268
Review for gene: CCDC47 was set to GREEN
gene: CCDC47 was marked as current diagnostic
Added comment: From GEL: Morimoto el al. (PMID: 30401460) report on 4 individuals from 4 unrelated families with biallelic LoF variants in CCDC47. The phenotype consisted of abnormal (woolly) hair, liver dysfunction, common facial features as well as DD/ID.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.1711 ACAT1 Zornitza Stark Phenotypes for gene: ACAT1 were changed from to Alpha-methylacetoacetic aciduria, MIM# 203750
Intellectual disability syndromic and non-syndromic v0.1708 ACAT1 Zornitza Stark reviewed gene: ACAT1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Alpha-methylacetoacetic aciduria, MIM# 203750; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1708 ACADSB Zornitza Stark Phenotypes for gene: ACADSB were changed from 2-methylbutyrylglycinuria, MIM# 610006 to 2-methylbutyrylglycinuria, MIM# 610006
Intellectual disability syndromic and non-syndromic v0.1707 ACADSB Zornitza Stark Phenotypes for gene: ACADSB were changed from to 2-methylbutyrylglycinuria, MIM# 610006
Intellectual disability syndromic and non-syndromic v0.1704 ACADSB Zornitza Stark reviewed gene: ACADSB: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: 2-methylbutyrylglycinuria, MIM# 610006; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1702 CLIC2 Zornitza Stark reviewed gene: CLIC2: Rating: RED; Mode of pathogenicity: None; Publications: 22814392, 25927380; Phenotypes: Mental retardation, X-linked, syndromic 32, 300886; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Intellectual disability syndromic and non-syndromic v0.1702 SLC6A9 Zornitza Stark Phenotypes for gene: SLC6A9 were changed from Glycine encephalopathy with normal serum glycine 617301 to Glycine encephalopathy with normal serum glycine 617301
Intellectual disability syndromic and non-syndromic v0.1701 SLC6A9 Zornitza Stark Phenotypes for gene: SLC6A9 were changed from to Glycine encephalopathy with normal serum glycine 617301
Intellectual disability syndromic and non-syndromic v0.1699 SLC6A9 Zornitza Stark reviewed gene: SLC6A9: Rating: GREEN; Mode of pathogenicity: None; Publications: 27481395, 27773429; Phenotypes: Glycine encephalopathy with normal serum glycine 617301; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Intellectual disability syndromic and non-syndromic v0.1696 DHFR Zornitza Stark reviewed gene: DHFR: Rating: GREEN; Mode of pathogenicity: None; Publications: 21310276, 21310277; Phenotypes: Megaloblastic anemia due to dihydrofolate reductase deficiency, MIM# 613839; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1693 SLC39A8 Zornitza Stark reviewed gene: SLC39A8: Rating: GREEN; Mode of pathogenicity: None; Publications: 26637978, 26637979; Phenotypes: Congenital disorder of glycosylation, type IIn , MIM#16721; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1692 PIGS Zornitza Stark gene: PIGS was added
gene: PIGS was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review
Mode of inheritance for gene: PIGS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PIGS were set to 30269814
Phenotypes for gene: PIGS were set to Glycosylphosphatidylinositol biosynthesis defect 18, MIM# 618143
Review for gene: PIGS was set to GREEN
Added comment: Three unrelated families reported. Severe neurological phenotype ranging from fetal akinesia to ID/EE.
Sources: Expert Review
Intellectual disability syndromic and non-syndromic v0.1690 FUK Zornitza Stark gene: FUK was added
gene: FUK was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: FUK was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FUK were set to 30503518
Phenotypes for gene: FUK were set to Congenital disorder of glycosylation with defective fucosylation 2, MIM# 618324
Review for gene: FUK was set to AMBER
Added comment: Two unrelated individuals reported.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1688 ZNF142 Zornitza Stark gene: ZNF142 was added
gene: ZNF142 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list
Mode of inheritance for gene: ZNF142 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ZNF142 were set to 31036918
Phenotypes for gene: ZNF142 were set to Neurodevelopmental disorder with impaired speech and hyperkinetic movements, MIM#618425
Review for gene: ZNF142 was set to GREEN
gene: ZNF142 was marked as current diagnostic
Added comment: 7 individuals from 4 unrelated families reported.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.1686 WARS2 Zornitza Stark gene: WARS2 was added
gene: WARS2 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list
Mode of inheritance for gene: WARS2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: WARS2 were set to 29783990; 28236339; 29120065; 28650581; 28905505
Phenotypes for gene: WARS2 were set to Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures, MIM#617710
Review for gene: WARS2 was set to GREEN
gene: WARS2 was marked as current diagnostic
Added comment: 7 unrelated families reported.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.1684 VPS11 Zornitza Stark gene: VPS11 was added
gene: VPS11 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list
Mode of inheritance for gene: VPS11 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: VPS11 were set to 27120463; 26307567; 27473128
Phenotypes for gene: VPS11 were set to Leukodystrophy, hypomyelinating, 12, MIM#616683
Review for gene: VPS11 was set to GREEN
Added comment: ID, (variable) acquired microcephaly with hypomyelination; seizures in several reported individuals. 13 individuals from 7 Ashkenazi Jewish families, homozygous for a founder mutation (NM_021729.5:c.2536T>G or p.Cys846Gly); a different variant (p.Leu387_Gly395del) reported in a consanguineous family.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.1681 TRAPPC12 Zornitza Stark Phenotypes for gene: TRAPPC12 were changed from to Encephalopathy, progressive, early-onset, with brain atrophy and spasticity, MIM#617669
Intellectual disability syndromic and non-syndromic v0.1679 TRAPPC12 Zornitza Stark reviewed gene: TRAPPC12: Rating: AMBER; Mode of pathogenicity: None; Publications: 28777934; Phenotypes: Encephalopathy, progressive, early-onset, with brain atrophy and spasticity, MIM#617669; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1677 SLC1A4 Zornitza Stark gene: SLC1A4 was added
gene: SLC1A4 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list
Mode of inheritance for gene: SLC1A4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC1A4 were set to 29989513; 27193218; 26138499; 26041762; 25930971
Phenotypes for gene: SLC1A4 were set to Spastic tetraplegia, thin corpus callosum, and progressive microcephaly, MIM# 616657
Review for gene: SLC1A4 was set to GREEN
gene: SLC1A4 was marked as current diagnostic
Added comment: Multiple affected individuals reported in the literature, seizures/EE are part of the phenotype. While initial reports identified a recurrent missense variant in individuals of Ashkenazi Jewish ancestry, there have been more recent reports of individuals from other ethnic backgrounds with different variants
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.1675 NBEA Zornitza Stark gene: NBEA was added
gene: NBEA was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list
Mode of inheritance for gene: NBEA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: NBEA were set to 30269351; 28554332; 12746398; 12826745; 11450821; 3377648; 23277425; 22109531; 23153818
Phenotypes for gene: NBEA were set to Intellectual disability; Seizures
Review for gene: NBEA was set to GREEN
gene: NBEA was marked as current diagnostic
Added comment: 24 de novo variants reported in individuals with a neurodevelopmental disorder.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.1673 MACF1 Zornitza Stark gene: MACF1 was added
gene: MACF1 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list
Mode of inheritance for gene: MACF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MACF1 were set to 30471716
Phenotypes for gene: MACF1 were set to Lissencephaly 9 with complex brainstem malformation, MIM# 618325
Mode of pathogenicity for gene: MACF1 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Review for gene: MACF1 was set to GREEN
Added comment: Nine individuals (including a pair of twins) reported with de novo, likely GoF variants in this gene.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.1672 Zornitza Stark removed gene:LNP1 from the panel
Intellectual disability syndromic and non-syndromic v0.1667 NLGN4X Zornitza Stark reviewed gene: NLGN4X: Rating: RED; Mode of pathogenicity: None; Publications: 12669065, 18231125, 10071191, 29428674; Phenotypes: Mental retardation, X-linked, MIM# 300495; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Intellectual disability syndromic and non-syndromic v0.1666 KATNB1 Zornitza Stark gene: KATNB1 was added
gene: KATNB1 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list
Mode of inheritance for gene: KATNB1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KATNB1 were set to 25521378; 25521379; 26640080
Phenotypes for gene: KATNB1 were set to Lissencephaly 6, with microcephaly, MIM# 616212
Review for gene: KATNB1 was set to GREEN
Added comment: At least 9 families reported with bi-allelic variants in this gene.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.1664 GNB5 Zornitza Stark gene: GNB5 was added
gene: GNB5 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list
Mode of inheritance for gene: GNB5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GNB5 were set to 27523599; 27677260; 28697420; 29368331
Phenotypes for gene: GNB5 were set to Intellectual developmental disorder with cardiac arrhythmia, 617173; Language delay and ADHD/cognitive impairment with or without cardiac arrhythmia, 617182; Early infantile epileptic encephalopathy (EIEE)
Review for gene: GNB5 was set to GREEN
gene: GNB5 was marked as current diagnostic
Added comment: Multiple affected individuals reported.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.1659 FAR1 Zornitza Stark reviewed gene: FAR1: Rating: AMBER; Mode of pathogenicity: None; Publications: 25439727; Phenotypes: Peroxisomal fatty acyl-CoA reductase 1 disorder, MIM#616154; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1658 GOT2 Zornitza Stark gene: GOT2 was added
gene: GOT2 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: GOT2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GOT2 were set to 31422819
Phenotypes for gene: GOT2 were set to Epileptic encephalopathy, early infantile, 82, MIM# 618721
Review for gene: GOT2 was set to GREEN
Added comment: Four individuals from three unrelated families reported, EE/DD. Treatment with pyridoxine and serine ameliorated the phenotype.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1656 RAB11A Zornitza Stark gene: RAB11A was added
gene: RAB11A was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: RAB11A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RAB11A were set to 29100083
Phenotypes for gene: RAB11A were set to Intellectual disability; seizures
Review for gene: RAB11A was set to AMBER
Added comment: Five individuals reported with DNMs and neurodevelopmental phenotypes as part of this paper; however, clinical details are sparse. Emerging gene, phenotype not yet clearly delineated.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1654 DHPS Zornitza Stark gene: DHPS was added
gene: DHPS was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list
Mode of inheritance for gene: DHPS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DHPS were set to 30661771
Phenotypes for gene: DHPS were set to Neurodevelopmental disorder with seizures and speech and walking impairment, MIM#618480
Review for gene: DHPS was set to GREEN
gene: DHPS was marked as current diagnostic
Added comment: 5 individuals from 4 unrelated families with biallelic pathogenic variants in DHPS, note one variant is recurrent (c.518A>G or p.Asn173Ser). The phenotype consisted of DD/ID (5/5), tone abnormalities (hypotonia/hypertonia/spasticity - 5/5), seizures (5/5 - in one case though unclear staring spells) with EEG abnormalities (5/5). Additionally most individuals displayed behavioral issues, or some common facial features
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.1652 DHDDS Zornitza Stark gene: DHDDS was added
gene: DHDDS was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list
Mode of inheritance for gene: DHDDS was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: DHDDS were set to 29100083
Phenotypes for gene: DHDDS were set to Developmental delay and seizures with or without movement abnormalities, MIM#617836
Review for gene: DHDDS was set to GREEN
gene: DHDDS was marked as current diagnostic
Added comment: Five unrelated individuals reported with mono-allelic variants and a neurodevelopmental phenotype.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.1650 DEGS1 Zornitza Stark gene: DEGS1 was added
gene: DEGS1 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list
Mode of inheritance for gene: DEGS1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DEGS1 were set to 31186544; 30620337; 30620338
Phenotypes for gene: DEGS1 were set to Leukodystrophy hypomyelinating 18, MIM#618404
Review for gene: DEGS1 was set to GREEN
Added comment: Multiple affected families, DD/ID is part of the phenotype.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.1646 RBFOX1 Zornitza Stark reviewed gene: RBFOX1: Rating: RED; Mode of pathogenicity: None; Publications: 24664471; Phenotypes: Intellectual disability, autism; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1643 DDOST Zornitza Stark reviewed gene: DDOST: Rating: AMBER; Mode of pathogenicity: None; Publications: 22305527; Phenotypes: Congenital disorder of glycosylation, type Ir, MIM# 614507; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1642 NTNG1 Zornitza Stark reviewed gene: NTNG1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Intellectual disability syndromic and non-syndromic v0.1642 MTHFS Zornitza Stark Marked gene: MTHFS as ready
Intellectual disability syndromic and non-syndromic v0.1642 MTHFS Zornitza Stark Gene: mthfs has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1642 MTHFS Zornitza Stark Classified gene: MTHFS as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1642 MTHFS Zornitza Stark Gene: mthfs has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1641 MTHFS Zornitza Stark gene: MTHFS was added
gene: MTHFS was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: MTHFS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MTHFS were set to 30031689; 31844630; 22303332
Phenotypes for gene: MTHFS were set to Neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination, 618367
Review for gene: MTHFS was set to GREEN
Added comment: Three unrelated individuals reported with supporting biochemical evidence.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1639 CACNA1B Zornitza Stark gene: CACNA1B was added
gene: CACNA1B was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list
Mode of inheritance for gene: CACNA1B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CACNA1B were set to 30982612
Phenotypes for gene: CACNA1B were set to Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements, MIM# 618497
Review for gene: CACNA1B was set to GREEN
Added comment: Three unrelated families reported.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.1637 CDH2 Zornitza Stark gene: CDH2 was added
gene: CDH2 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: CDH2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CDH2 were set to 31585109
Phenotypes for gene: CDH2 were set to Intellectual disability; corpus callosum abnormalities; congenital abnormalities
Review for gene: CDH2 was set to GREEN
Added comment: Nine unrelated individuals reported with de novo variants in this gene.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1636 NTNG2 Zornitza Stark Phenotypes for gene: NTNG2 were changed from Intellectual disability; autism; dysmorphic features to Intellectual disability; autism; dysmorphic features; Neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia, MIM# 618718
Intellectual disability syndromic and non-syndromic v0.1619 KCNN3 Alison Yeung gene: KCNN3 was added
gene: KCNN3 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: KCNN3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: KCNN3 were set to PMID: 31155282
Phenotypes for gene: KCNN3 were set to Zimmermann-Laband syndrome 3; OMIM# 618658
Review for gene: KCNN3 was set to GREEN
gene: KCNN3 was marked as current diagnostic
Added comment: Reported in three unrelated individuals
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1615 CTNND2 Zornitza Stark reviewed gene: CTNND2: Rating: AMBER; Mode of pathogenicity: None; Publications: 25839933, 29127138, 25807484; Phenotypes: Intellectual disability, Autism, Epilepsy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1614 IQSEC1 Zornitza Stark gene: IQSEC1 was added
gene: IQSEC1 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: IQSEC1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IQSEC1 were set to 31607425
Phenotypes for gene: IQSEC1 were set to Intellectual developmental disorder with short stature and behavioral abnormalities, MIM# 618687
Review for gene: IQSEC1 was set to GREEN
Added comment: Five individuals from two unrelated families reported, animal model data.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1612 POLA1 Alison Yeung gene: POLA1 was added
gene: POLA1 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: POLA1 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for gene: POLA1 were set to PMID: 31006512
Phenotypes for gene: POLA1 were set to Van Esch-O'Driscoll syndrome OMIM# 301030
Review for gene: POLA1 was set to GREEN
gene: POLA1 was marked as current diagnostic
Added comment: Five unrelated families reported
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1609 GPC4 Alison Yeung gene: GPC4 was added
gene: GPC4 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: GPC4 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for gene: GPC4 were set to PMID: 30982611
Phenotypes for gene: GPC4 were set to Keipert syndrome OMIM# 301026
Review for gene: GPC4 was set to GREEN
gene: GPC4 was marked as current diagnostic
Added comment: >3 unrelated individuals reported, functional studies in mice
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1607 CARS Alison Yeung gene: CARS was added
gene: CARS was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: CARS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CARS were set to PMID: 30824121
Phenotypes for gene: CARS were set to Intellectual disability; microcephaly; brittle hair and nails
Review for gene: CARS was set to GREEN
gene: CARS was marked as current diagnostic
Added comment: Three reported unrelated families
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1605 MAPK8IP3 Alison Yeung gene: MAPK8IP3 was added
gene: MAPK8IP3 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: MAPK8IP3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: MAPK8IP3 were set to 30612693
Phenotypes for gene: MAPK8IP3 were set to Neurodevelopmental disorder with or without variable brain abnormalities OMIM# 605431
Review for gene: MAPK8IP3 was set to GREEN
gene: MAPK8IP3 was marked as current diagnostic
Added comment: >3 reported individuals and functional evidence in Caenorhabditis elegans
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1600 RIC1 Zornitza Stark gene: RIC1 was added
gene: RIC1 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: RIC1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RIC1 were set to 31932796
Phenotypes for gene: RIC1 were set to Cleft lip; cataract; tooth abnormality; intellectual disability; facial dysmorphism; ADHD
Review for gene: RIC1 was set to AMBER
Added comment: Zebrafish model and consanguineous families but homozygous-by-descent.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1598 TET3 Zornitza Stark gene: TET3 was added
gene: TET3 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: TET3 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: TET3 were set to 31928709
Phenotypes for gene: TET3 were set to Intellectual disability; dysmorphic features; abnormal growth; movement disorders
Review for gene: TET3 was set to GREEN
Added comment: Eleven individuals from 8 families described. Mono-allelic frameshift and nonsense variants occur throughout the coding region. Mono-allelic and bi-allelic missense variants localize to conserved residues; all but one such variant occur within the catalytic domain, and most display hypomorphic function in an assay of catalytic activity.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1595 Zornitza Stark Panel name changed from Intellectual disability, syndromic and non-syndromic_GHQ_VCGS to Intellectual disability, syndromic and non-syndromic
Panel types changed to Genetic Health Queensland; Victorian Clinical Genetics Services
Intellectual disability syndromic and non-syndromic v0.1594 Zornitza Stark removed gene:TEMN3-AS1 from the panel
Intellectual disability syndromic and non-syndromic v0.1592 HK1 Natasha Brown gene: HK1 was added
gene: HK1 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
Mode of inheritance for gene: HK1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: HK1 were set to PMID: 30778173
Mode of pathogenicity for gene: HK1 was set to Other
Review for gene: HK1 was set to GREEN
Added comment: 7 patients from 6 unrelated families with denovo missense variants in the N-terminal half of HK1
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1591 SNORD118 Zornitza Stark Phenotypes for gene: SNORD118 were changed from to Leukoencephalopathy, brain calcifications, and cysts, MIM#614561
Intellectual disability syndromic and non-syndromic v0.1583 CLCNKB Zornitza Stark Mode of inheritance for gene: CLCNKB was changed from Unknown to Other
Intellectual disability syndromic and non-syndromic v0.1581 CLCNKA Zornitza Stark Mode of inheritance for gene: CLCNKA was changed from Other to Other
Intellectual disability syndromic and non-syndromic v0.1581 CLCNKA Zornitza Stark Mode of inheritance for gene: CLCNKA was changed from Unknown to Other
Intellectual disability syndromic and non-syndromic v0.1580 COASY Zornitza Stark Phenotypes for gene: COASY were changed from Neurodegeneration with brain iron accumulation 6 615643; Pontocerebellar hypoplasia, type 12 618266 to Neurodegeneration with brain iron accumulation 6 615643; Pontocerebellar hypoplasia, type 12 618266
Intellectual disability syndromic and non-syndromic v0.1579 COASY Zornitza Stark Phenotypes for gene: COASY were changed from to Neurodegeneration with brain iron accumulation 6 615643; Pontocerebellar hypoplasia, type 12 618266
Intellectual disability syndromic and non-syndromic v0.1571 MED17 Zornitza Stark Phenotypes for gene: MED17 were changed from to Microcephaly, postnatal progressive, with seizures and brain atrophy, MIM#613668
Intellectual disability syndromic and non-syndromic v0.1558 SCN9A Zornitza Stark Phenotypes for gene: SCN9A were changed from to Epilepsy, generalized, with febrile seizures plus, type 7, MIM#613863; HSAN2D, autosomal recessive, MIM#243000
Intellectual disability syndromic and non-syndromic v0.1557 SCN9A Zornitza Stark Mode of inheritance for gene: SCN9A was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1552 SMPD4 Zornitza Stark Phenotypes for gene: SMPD4 were changed from Severe neurodevelopmental delay, microcephaly, arthrogryposis to Severe neurodevelopmental delay, microcephaly, arthrogryposis
Intellectual disability syndromic and non-syndromic v0.1551 SMPD4 Zornitza Stark Phenotypes for gene: SMPD4 were changed from to Severe neurodevelopmental delay, microcephaly, arthrogryposis
Intellectual disability syndromic and non-syndromic v0.1548 TBCD Zornitza Stark Phenotypes for gene: TBCD were changed from Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum, MIM#617193 to Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum, MIM#617193
Intellectual disability syndromic and non-syndromic v0.1548 TBCD Zornitza Stark Phenotypes for gene: TBCD were changed from to Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum, MIM#617193
Intellectual disability syndromic and non-syndromic v0.1545 ZSWIM6 Zornitza Stark Mode of pathogenicity for gene: ZSWIM6 was changed from to None
Intellectual disability syndromic and non-syndromic v0.1543 ZSWIM6 Zornitza Stark Phenotypes for gene: ZSWIM6 were changed from to Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features, MIM#617865
Intellectual disability syndromic and non-syndromic v0.1538 AGMO Zornitza Stark Added comment: Comment when marking as ready: Three unrelated families and functional data.
Intellectual disability syndromic and non-syndromic v0.1533 STAG2 Dean Phelan gene: STAG2 was added
gene: STAG2 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Expert list
Mode of inheritance for gene: STAG2 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for gene: STAG2 were set to 30765867; 28296084; 30447054; 29263825; 30158690
Added comment: 12 unrelated families reported both males and females affected (OMIM).
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.1533 FOXP1 Zornitza Stark Phenotypes for gene: FOXP1 were changed from to Mental retardation with language impairment and with or without autistic features, MIM# 613670
Intellectual disability syndromic and non-syndromic v0.1530 FOXP1 Michelle Torres reviewed gene: FOXP1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 26633542, PMID: 28741757; Phenotypes: Mental retardation with language impairment and with or without autistic features 613670; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Intellectual disability syndromic and non-syndromic v0.1530 COASY Michelle Torres reviewed gene: COASY: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 24360804, PMID: 30089828; Phenotypes: Neurodegeneration with brain iron accumulation 6 615643, Pontocerebellar hypoplasia, type 12 618266; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1530 NUP214 Zornitza Stark Added comment: Comment when marking as ready: Three unrelated families reported.
Intellectual disability syndromic and non-syndromic v0.1529 EXTL3 Zornitza Stark Phenotypes for gene: EXTL3 were changed from to Immunoskeletal dysplasia with neurodevelopmental abnormalities, MIM# 617425
Intellectual disability syndromic and non-syndromic v0.1526 EXTL3 Zornitza Stark reviewed gene: EXTL3: Rating: GREEN; Mode of pathogenicity: None; Publications: 28132690, 28148688; Phenotypes: Immunoskeletal dysplasia with neurodevelopmental abnormalities, MIM# 617425; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1526 NUP214 Zornitza Stark Phenotypes for gene: NUP214 were changed from epileptic encephalopathy; developmental regression; microcephaly to {Encephalopathy, acute, infection-induced, susceptibility to, 9}, MIM# 618426; epileptic encephalopathy; developmental regression; microcephaly
Intellectual disability syndromic and non-syndromic v0.1524 NUP214 Sue White gene: NUP214 was added
gene: NUP214 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
Mode of inheritance for gene: NUP214 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NUP214 were set to 31178128
Phenotypes for gene: NUP214 were set to epileptic encephalopathy; developmental regression; microcephaly
Penetrance for gene: NUP214 were set to Complete
Review for gene: NUP214 was set to GREEN
gene: NUP214 was marked as current diagnostic
Added comment: Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1522 AP2M1 Zornitza Stark gene: AP2M1 was added
gene: AP2M1 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Expert list
Mode of inheritance for gene: AP2M1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: AP2M1 were set to 31104773
Phenotypes for gene: AP2M1 were set to Intellectual developmental disorder 60 with seizures, MIM# 618587
Review for gene: AP2M1 was set to GREEN
Added comment: Four unrelated individuals reported, recurrent variant, NM_004068.3:c.508C>T or p.Arg170Trp.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.1517 ASXL3 Ain Roesley reviewed gene: ASXL3: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 28100473, 27901041, 23383720; Phenotypes: Bainbridge-Ropers syndrome (OMIM # 615485); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1514 DNMT3A Zornitza Stark Phenotypes for gene: DNMT3A were changed from Gatton-Brown-Rahman syndrome, MIM#615879; primordial dwarfism with intellectual disability and microcephaly to Tatton-Brown-Rahman syndrome, MIM#615879; primordial dwarfism with intellectual disability and microcephaly
Intellectual disability syndromic and non-syndromic v0.1513 DNMT3A Zornitza Stark Phenotypes for gene: DNMT3A were changed from to Gatton-Brown-Rahman syndrome, MIM#615879; primordial dwarfism with intellectual disability and microcephaly
Intellectual disability syndromic and non-syndromic v0.1510 DNMT3A Zornitza Stark reviewed gene: DNMT3A: Rating: GREEN; Mode of pathogenicity: Other; Publications: 30478443, 24614070; Phenotypes: TATTON-BROWN-RAHMAN SYNDROME, OMIM# 615879, primordial dwarfism with intellectual disability and microcephaly; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1507 SETD5 Ain Roesley reviewed gene: SETD5: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 29484850; Phenotypes: Intellectual disability, autosomal dominant 23 (MIM # 615761); Mode of inheritance: None
Intellectual disability syndromic and non-syndromic v0.1506 FZD3 Zornitza Stark reviewed gene: FZD3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Intellectual disability syndromic and non-syndromic v0.1504 H3F3B Zornitza Stark commented on gene: H3F3B: Elizabeth J Bhoj, H3F3A/B Consortium, Hakon H. Hakonarson.: Mutations In H3f3a And H3f3b Encoding Histone 3.3: Report Of 26 Patients With Neurodevelopmental And Congenital Manifestations. American Society of Human Genetics, Orlando, FL October 2017 Notes: Platform Presentation.
Intellectual disability syndromic and non-syndromic v0.1501 PUS3 Zornitza Stark gene: PUS3 was added
gene: PUS3 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Expert list
Mode of inheritance for gene: PUS3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PUS3 were set to 30308082; 28454995; 27055666; 30697592; 31444731
Phenotypes for gene: PUS3 were set to Mental retardation, autosomal recessive 55, MIM# 617051
Review for gene: PUS3 was set to GREEN
Added comment: Seven individuals from five families reported; two of the families had the same homozygous truncating variant. Variable features reported in addition to ID, including leukoencephalopathy, EE, and nephropathy.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.1499 EIF3F Zornitza Stark gene: EIF3F was added
gene: EIF3F was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Expert list
Mode of inheritance for gene: EIF3F was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EIF3F were set to 30409806
Phenotypes for gene: EIF3F were set to Mental retardation, autosomal recessive 67, MIM# 618295
Review for gene: EIF3F was set to GREEN
Added comment: Nine individuals from 7 families reported, all homozygous for the same missense variant, p.(Phe232Val). This variant is present at 0.12% frequency in non-Finnish Europeans in gnomad (no homozygotes).
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.1493 METTL5 Zornitza Stark gene: METTL5 was added
gene: METTL5 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Expert list
Mode of inheritance for gene: METTL5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: METTL5 were set to 29302074; 31564433
Phenotypes for gene: METTL5 were set to Intellectual developmental disorder, autosomal recessive 72, MIM# 618665
Review for gene: METTL5 was set to GREEN
Added comment: Three unrelated families and animal model.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.1488 KLHL15 Zornitza Stark gene: KLHL15 was added
gene: KLHL15 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
Mode of inheritance for gene: KLHL15 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: KLHL15 were set to 25644381; 24817631
Phenotypes for gene: KLHL15 were set to Mental retardation, X-linked 103, MIM#300982
Review for gene: KLHL15 was set to AMBER
Added comment: Two families described: variants maternally inherited in both, one deletion, the other truncating.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1486 ODC1 Zornitza Stark gene: ODC1 was added
gene: ODC1 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
Mode of inheritance for gene: ODC1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ODC1 were set to 30475435
Phenotypes for gene: ODC1 were set to Intellectual disability; macrocephaly; dysmorphism
Mode of pathogenicity for gene: ODC1 was set to Other
Review for gene: ODC1 was set to GREEN
Added comment: Four individuals with de novo GoF variants in this gene reported.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1484 RALA Zornitza Stark gene: RALA was added
gene: RALA was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
Mode of inheritance for gene: RALA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RALA were set to 30500825
Phenotypes for gene: RALA were set to Intellectual disability; short stature; dysmorphism
Review for gene: RALA was set to GREEN
Added comment: Ten individuals with de novo variants in this gene, six of these at two codons only: Val25 and Lys128.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1481 TRPM3 Zornitza Stark gene: TRPM3 was added
gene: TRPM3 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
Mode of inheritance for gene: TRPM3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TRPM3 were set to 31278393
Phenotypes for gene: TRPM3 were set to Intellectual disability; epilepsy
Review for gene: TRPM3 was set to GREEN
Added comment: 8 unrelated individuals with de novo variants in this gene. Recurrent variant p.(Val837Met) identified in 7/8.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1478 NUS1 Zornitza Stark gene: NUS1 was added
gene: NUS1 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
Mode of inheritance for gene: NUS1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: NUS1 were set to 31656175; 29100083
Phenotypes for gene: NUS1 were set to Epilepsy; intellectual disability
Review for gene: NUS1 was set to GREEN
Added comment: Five individuals reported with de novo variants in this gene and epilepsy/ID phenotype (4 truncating variants and a small deletion).
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1476 UGP2 Zornitza Stark gene: UGP2 was added
gene: UGP2 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
Mode of inheritance for gene: UGP2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: UGP2 were set to 31820119
Phenotypes for gene: UGP2 were set to Epileptic encephalopathy; intellectual disability; microcephaly
Review for gene: UGP2 was set to GREEN
Added comment: 22 individuals from 15 families reported with the same homozygous missense variant in this gene, chr2:64083454A > G, which causes a disruption of the start codon in the shorter isoform, which is expressed in brain.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1474 PDE6D Zornitza Stark edited their review of gene: PDE6D: Changed rating: AMBER
Intellectual disability syndromic and non-syndromic v0.1470 TRIM32 Zornitza Stark reviewed gene: TRIM32: Rating: RED; Mode of pathogenicity: None; Publications: 16606853; Phenotypes: Bardet-Biedl syndrome 11, MIM# 615988; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1470 XPNPEP3 Zornitza Stark Phenotypes for gene: XPNPEP3 were changed from to Nephronophthisis-like nephropathy 1, OMIM #613159
Intellectual disability syndromic and non-syndromic v0.1466 XPNPEP3 Zornitza Stark reviewed gene: XPNPEP3: Rating: RED; Mode of pathogenicity: None; Publications: 20179356; Phenotypes: Nephronophthisis-like nephropathy 1, OMIM #613159; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1465 NTRK2 Zornitza Stark gene: NTRK2 was added
gene: NTRK2 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Expert list
Mode of inheritance for gene: NTRK2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: NTRK2 were set to 15494731; 27884935; 29100083
Phenotypes for gene: NTRK2 were set to Obesity, hyperphagia, and developmental delay, MIM# 613886
Review for gene: NTRK2 was set to GREEN
Added comment: Three unrelated individuals reported with this phenotype.
Note recurrent missense in this gene also causes EE.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.1463 GLS Zornitza Stark gene: GLS was added
gene: GLS was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
Mode of inheritance for gene: GLS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GLS were set to 30970188
Phenotypes for gene: GLS were set to Global developmental delay, progressive ataxia, and elevated glutamine, MIM# 618412
Review for gene: GLS was set to AMBER
Added comment: Three unrelated individuals described with compound het variants, however, note one of these is a triplet expansion in the 5' UTR, this may not be tractable depending on sequencing modality.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1458 PUM1 Zornitza Stark Added comment: Comment on list classification: Another two families reported.
Intellectual disability syndromic and non-syndromic v0.1453 AP1B1 Zornitza Stark gene: AP1B1 was added
gene: AP1B1 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
Mode of inheritance for gene: AP1B1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AP1B1 were set to 31630788; 31630791
Phenotypes for gene: AP1B1 were set to Intellectual disability; enteropathy; deafness; ichthyosis; keratoderma
Review for gene: AP1B1 was set to GREEN
Added comment: Four unrelated families with bi-allelic LoF variants in this gene.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1451 DMXL2 Zornitza Stark gene: DMXL2 was added
gene: DMXL2 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
Mode of inheritance for gene: DMXL2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DMXL2 were set to 31688942; 30237576
Phenotypes for gene: DMXL2 were set to Epileptic encephalopathy, early infantile, 81, MIM# 618663
Review for gene: DMXL2 was set to GREEN
Added comment: Four unrelated families reported.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1450 SHANK1 Sebastian Lunke reviewed gene: SHANK1: Rating: RED; Mode of pathogenicity: None; Publications: 22503632, 25188300; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Intellectual disability syndromic and non-syndromic v0.1444 NUP188 Zornitza Stark reviewed gene: NUP188: Rating: GREEN; Mode of pathogenicity: None; Publications: https://doi.org/10.1159/000504818, 28726809; Phenotypes: microcephaly, ID, cataract; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1440 CCDC88C Zornitza Stark reviewed gene: CCDC88C: Rating: AMBER; Mode of pathogenicity: None; Publications: 25062847, 30398676; Phenotypes: Spinocerebellar ataxia 40, MIM#616053; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1440 COQ5 Zornitza Stark Phenotypes for gene: COQ5 were changed from to Cerebellar ataxia; encephalopathy; generalized tonic-clonic seizures; intellectual disability
Intellectual disability syndromic and non-syndromic v0.1436 COQ5 Zornitza Stark reviewed gene: COQ5: Rating: RED; Mode of pathogenicity: None; Publications: 29044765; Phenotypes: Cerebellar ataxia, encephalopathy, generalized tonic-clonic seizures, intellectual disability; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1435 MN1 Zornitza Stark gene: MN1 was added
gene: MN1 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
Mode of inheritance for gene: MN1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MN1 were set to 31834374; 31839203
Phenotypes for gene: MN1 were set to Intellectual disability; dysmophic features; rhombencephalosynapsis
Mode of pathogenicity for gene: MN1 was set to Other
Review for gene: MN1 was set to GREEN
Added comment: Over 20 individuals described with de novo truncating variants in this gene; these cluster in the C-terminal and the authors postulate that that syndrome is not due to MN1 haploinsufficiency but rather is the result of dominantly acting C-terminally truncated MN1 protein.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1433 EEF1B2 Zornitza Stark gene: EEF1B2 was added
gene: EEF1B2 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
Mode of inheritance for gene: EEF1B2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EEF1B2 were set to 31845318; 21937992
Phenotypes for gene: EEF1B2 were set to Intellectual disability
Review for gene: EEF1B2 was set to AMBER
Added comment: 5 individuals from two unrelated families described in the literature so far, no functional data but gene belongs to a family implicated in neurodevelopmental disorders.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1431 CLCN4 Zornitza Stark Mode of inheritance for gene: CLCN4 was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Intellectual disability syndromic and non-syndromic v0.1429 CLCN4 Elizabeth Palmer reviewed gene: CLCN4: Rating: GREEN; Mode of pathogenicity: None; Publications: (PMID: 27550844); Phenotypes: intellectual disability, epilepsy, autistic features, mood disorders, cerebral white matter changes, progressive appendicular spasticity; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Intellectual disability syndromic and non-syndromic v0.1429 ZSWIM6 Elizabeth Palmer reviewed gene: ZSWIM6: Rating: GREEN; Mode of pathogenicity: Other; Publications: (PMID:: 29198722); Phenotypes: NEURODEVELOPMENTAL DISORDER WITH MOVEMENT ABNORMALITIES, ABNORMAL GAIT, AND AUTISTIC FEATURES, NEDMAGA; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Intellectual disability syndromic and non-syndromic v0.1428 ATP1A1 Zornitza Stark gene: ATP1A1 was added
gene: ATP1A1 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
Mode of inheritance for gene: ATP1A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ATP1A1 were set to 30388404
Phenotypes for gene: ATP1A1 were set to Intellectual disability; seizures; hypomagnesaemia
Review for gene: ATP1A1 was set to GREEN
Added comment: Three infants with de novo missense variants in this gene; seizures persisted despite correction of magnesium, intellectual disability is part of the phenotype. Note gene is also linked to CMT and possibly HSP.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1426 TASP1 Zornitza Stark gene: TASP1 was added
gene: TASP1 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
Mode of inheritance for gene: TASP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TASP1 were set to 31209944; 31350873
Phenotypes for gene: TASP1 were set to Developmental delay; microcephaly; dysmorphic features; congenital abnormalities
Review for gene: TASP1 was set to GREEN
Added comment: Four unrelated families reported; two with founder mutation. Protein interacts with KMT2A and KMT2D. Another infant with a de novo missense variant reported in a single infant with multiple congenital abnormalities, insufficient evidence for mono allelic disease at present.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1425 CACNA1G Chris Richmond reviewed gene: CACNA1G: Rating: ; Mode of pathogenicity: Other; Publications: 29878067, 31836334; Phenotypes: Spinocerebellar ataxia 42 [616795], Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits [618087], Infantile-Onset Syndromic Cerebellar Ataxia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Intellectual disability syndromic and non-syndromic v0.1425 SOST Zornitza Stark Mode of inheritance for gene: SOST was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1423 HNRNPR Zornitza Stark gene: HNRNPR was added
gene: HNRNPR was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
Mode of inheritance for gene: HNRNPR was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: HNRNPR were set to 31079900
Phenotypes for gene: HNRNPR were set to Intellectual disability; seizures; dysmorphic features
Review for gene: HNRNPR was set to GREEN
Added comment: Four unrelated families with heterozygous variants in this gene and a neurodevelopmental phenotype.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1422 DSCAM Natasha Brown Added comment: Comment when marking as ready: Large cohort studies mean that individual phenotype data currently lacking in particular in relation to ID
Intellectual disability syndromic and non-syndromic v0.1418 DSCAM Natasha Brown reviewed gene: DSCAM: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 27824329, 28191889, 21904980; Phenotypes: Autism, ID; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1414 ZFHX3 Zornitza Stark Deleted their comment
Intellectual disability syndromic and non-syndromic v0.1414 ZFHX3 Zornitza Stark changed review comment from: Personal communication: Over 20 individuals with mostly de novo variants in this gene and mild ID/DD
Sources: Research; to: Emerging evidence.
Sources: Research
Intellectual disability syndromic and non-syndromic v0.1412 ZFHX3 Zornitza Stark gene: ZFHX3 was added
gene: ZFHX3 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Research
Mode of inheritance for gene: ZFHX3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ZFHX3 were set to Intellectual disability
Review for gene: ZFHX3 was set to GREEN
Added comment: Personal communication: Over 20 individuals with mostly de novo variants in this gene and mild ID/DD
Sources: Research
Intellectual disability syndromic and non-syndromic v0.1408 SEC31A Tiong Tan gene: SEC31A was added
gene: SEC31A was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
Mode of inheritance for gene: SEC31A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SEC31A were set to 30464055
Phenotypes for gene: SEC31A were set to ?Neurodevelopmental disorder with spastic quadriplegia, optic atrophy, seizures, and structural brain anomalies, OMIM #618651
Review for gene: SEC31A was set to AMBER
Added comment: Single family with two affected sibs with functional data (drosophila)
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1406 SLC12A2 Zornitza Stark gene: SLC12A2 was added
gene: SLC12A2 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
Mode of inheritance for gene: SLC12A2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC12A2 were set to 30740830
Phenotypes for gene: SLC12A2 were set to Kilquist syndrome; deafness; intellectual disability; dysmorphic features; absent salivation
Review for gene: SLC12A2 was set to AMBER
Added comment: Single individual with bi-alllelic deletion described; mouse model recapitulated the phenotype.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1404 POLD1 Zornitza Stark gene: POLD1 was added
gene: POLD1 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
Mode of inheritance for gene: POLD1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: POLD1 were set to 31449058
Phenotypes for gene: POLD1 were set to Intellectual disability; immunodeficiency
Review for gene: POLD1 was set to RED
Added comment: Single family reported with biallelic variants in this gene. Note heterozygous variants cause a different condition: Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome, MIM#615381
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1402 ZMIZ1 Zornitza Stark Added comment: Comment when marking as ready: Please note transcription error in review relating to another gene, ZNF292. 19 families reported with heterozygous variants in this gene and a neurodevelopmental phenotype.
Intellectual disability syndromic and non-syndromic v0.1401 TUBB Zornitza Stark Phenotypes for gene: TUBB were changed from to Cortical dysplasia, complex, with other brain malformations 6, MIM#615771
Intellectual disability syndromic and non-syndromic v0.1398 TUBB Zornitza Stark reviewed gene: TUBB: Rating: GREEN; Mode of pathogenicity: None; Publications: 23246003; Phenotypes: Cortical dysplasia, complex, with other brain malformations 6, MIM#615771; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1398 TENM3 Zornitza Stark Added comment: Comment when marking as ready: Intellectual disability is part of the phenotype.
Intellectual disability syndromic and non-syndromic v0.1397 TENM3 Zornitza Stark gene: TENM3 was added
gene: TENM3 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
Mode of inheritance for gene: TENM3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TENM3 were set to 30513139; 22766609; 27103084; 29753094
Phenotypes for gene: TENM3 were set to Microphthalmia, syndromic 15, MIM#615145; coloboma
Review for gene: TENM3 was set to GREEN
Added comment: At least four unrelated families described with syndromic microphthalmia and bi-allelic variants in this gene.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1396 SNRPE Zornitza Stark Added comment: Comment when marking as ready: Three unrelated families reported with hypotrichosis simplex; only one family reported with ID.
Intellectual disability syndromic and non-syndromic v0.1392 POLR2A Sue White gene: POLR2A was added
gene: POLR2A was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
Mode of inheritance for gene: POLR2A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: POLR2A were set to 31353023
Phenotypes for gene: POLR2A were set to Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities, MIM# 618603
Mode of pathogenicity for gene: POLR2A was set to Other
Review for gene: POLR2A was set to GREEN
Added comment: 11 unrelated individuals reported with de novo variants in this gene. Missense variants postulated to exert a dominant-negative effect; LoF variants by contrast resulted in milder phenotype.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1388 GNAI1 Zornitza Stark reviewed gene: GNAI1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28135719; Phenotypes: Intellectual disability; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1387 NCAPD2 Zornitza Stark Added comment: Comment when marking as ready: Three families, upgraded to Green.
Intellectual disability syndromic and non-syndromic v0.1384 GTF2E2 Zornitza Stark Added comment: Comment when marking as ready: Two unrelated families with functional data, upgrade to Green.
Intellectual disability syndromic and non-syndromic v0.1382 FBXL3 Zornitza Stark Added comment: Comment when marking as ready: Three families, all different variants, promote to green.
Intellectual disability syndromic and non-syndromic v0.1379 ETS1 Zornitza Stark gene: ETS1 was added
gene: ETS1 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
Mode of inheritance for gene: ETS1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ETS1 were set to 31160359
Phenotypes for gene: ETS1 were set to Intellectual disability
Review for gene: ETS1 was set to RED
Added comment: Single individual with de novo truncating variant in this gene; gene is Jacobsen syndrome critical region.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1374 DYNC1I2 Zornitza Stark gene: DYNC1I2 was added
gene: DYNC1I2 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
Mode of inheritance for gene: DYNC1I2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DYNC1I2 were set to 31079899
Phenotypes for gene: DYNC1I2 were set to Neurodevelopmental disorder with microcephaly and structural brain anomalies , MIM#618492
Review for gene: DYNC1I2 was set to GREEN
Added comment: Five individuals from three unrelated families reported.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1373 DTYMK Zornitza Stark gene: DTYMK was added
gene: DTYMK was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
Mode of inheritance for gene: DTYMK was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DTYMK were set to 31271740
Phenotypes for gene: DTYMK were set to Intellectual disability; microcephaly
Review for gene: DTYMK was set to RED
Added comment: Single family, two affected sibs with compound het variants reported.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1372 DNAJA1 Zornitza Stark gene: DNAJA1 was added
gene: DNAJA1 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
Mode of inheritance for gene: DNAJA1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DNAJA1 were set to 30972502
Phenotypes for gene: DNAJA1 were set to Intellectual disability; seizures
Review for gene: DNAJA1 was set to RED
Added comment: Single family with multiple affected individuals reported with bi-allelic truncating variant in this gene.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1368 DDX6 Zornitza Stark gene: DDX6 was added
gene: DDX6 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
Mode of inheritance for gene: DDX6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: DDX6 were set to 31422817,
Phenotypes for gene: DDX6 were set to Intellectual developmental disorder with impaired language and dysmorphic facies, MIM#618653
Review for gene: DDX6 was set to GREEN
Added comment: Five unrelated individuals reported with 5 different de novo heterozygous missense mutations in exon 11 of the DDX6 gene. All variants occurred at conserved residues in either the QxxR or V motifs within the second RecA-2 domain of the helicase core; this region is involved in RNA and/or ATP binding, suggesting functional consequences.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1366 CYFIP2 Zornitza Stark gene: CYFIP2 was added
gene: CYFIP2 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
Mode of inheritance for gene: CYFIP2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CYFIP2 were set to 29534297
Phenotypes for gene: CYFIP2 were set to Epileptic encephalopathy, early infantile, 65, MIM#618008
Review for gene: CYFIP2 was set to GREEN
Added comment: Four unrelated individuals with de novo variants in this gene. All variants affected the same highly conserved residue (arg87) in the DUF1394 domain.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1364 CSDE1 Zornitza Stark gene: CSDE1 was added
gene: CSDE1 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
Mode of inheritance for gene: CSDE1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CSDE1 were set to 31579823
Phenotypes for gene: CSDE1 were set to Autism; intellectual disability; seizures; macrocephaly
Review for gene: CSDE1 was set to GREEN
Added comment: 18 families reported with high impact (stoppage/frameshift) variants in this gene. Eight de novo, eight inherited, two with undetermined inheritance. Functional data. Parents who had the variants were also affected, though generally more mildly.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1363 FAM160B1 Chirag Patel gene: FAM160B1 was added
gene: FAM160B1 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
Mode of inheritance for gene: FAM160B1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FAM160B1 were set to PMID: 31353455; 27431290
Phenotypes for gene: FAM160B1 were set to no OMIM number yet
Review for gene: FAM160B1 was set to RED
Added comment: 1 patient with severe ID, microcephaly, behavioral abnormalities, speech problems, mild ataxia and mild facial dysmorphism, and homozygous truncating variant in FAM160B1. No functional studies.

1 family with 2 sibs with DD, ID, speech issues, and with homozygous missense variant in FAM160B1. No functional studies.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1363 FAM160B1 Chirag Patel gene: FAM160B1 was added
gene: FAM160B1 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
Mode of inheritance for gene: FAM160B1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FAM160B1 were set to PMID: 31353455; 27431290
Phenotypes for gene: FAM160B1 were set to no OMIM number yet
Review for gene: FAM160B1 was set to RED
Added comment: 1 patient with severe ID, microcephaly, behavioral abnormalities, speech problems, mild ataxia and mild facial dysmorphism, and homozygous truncating variant in FAM160B1. No functional studies.

1 family with 2 sibs with DD, ID, speech issues, and with homozygous missense variant in FAM160B1. No functional studies.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1361 FBXL3 Chirag Patel gene: FBXL3 was added
gene: FBXL3 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
Mode of inheritance for gene: FBXL3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FBXL3 were set to PubMed: 30481285
Phenotypes for gene: FBXL3 were set to Intellectual developmental disorder with short stature, facial anomalies, and speech defects; OMIM #606220
Review for gene: FBXL3 was set to AMBER
Added comment: 3 unrelated families with 8 affected individuals with ID, DD, short stature and mild facial dysmorphism, and with homozygous mutations in FBXL3. Segregated with the disorder in all 3 families. Functional studies of the variants and studies of patient cells were not performed.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1358 FRY Chirag Patel gene: FRY was added
gene: FRY was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
Mode of inheritance for gene: FRY was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FRY were set to PMID: 31487712; 27457812; 21937992
Phenotypes for gene: FRY were set to no OMIM number yet
Review for gene: FRY was set to AMBER
Added comment: 1 patient with ID/DD and a novel homozygous deletion involving FRY gene identified by genomic SNP microarray. No functional evidence.

2 consanguineous families with 6 affected individuals with ID, and homozygous mutations of FRY. No functional evidence.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1355 GABRA5 Chirag Patel gene: GABRA5 was added
gene: GABRA5 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
Mode of inheritance for gene: GABRA5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: GABRA5 were set to PMID: 31056671; 29961870
Phenotypes for gene: GABRA5 were set to Epileptic encephalopathy, early infantile, 79; OMIM #618559
Review for gene: GABRA5 was set to GREEN
Added comment: 3 unrelated patients with de novo heterozygous missense mutations in GABRA5 gene. In vitro functional expression studies in HEK293 cells showed that the mutant subunit was expressed at the surface and incorporated into the channel, but the mutant channel was 10 times more sensitive to GABA compared to wildtype. This increased sensitization resulted in increased receptor desensitization to GABA, with a reduced maximal GABA-evoked current and impaired capacity to pass GABAergic chloride current.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1354 ADGRG6 Chirag Patel gene: ADGRG6 was added
gene: ADGRG6 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
Mode of inheritance for gene: ADGRG6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ADGRG6 were set to PMID: 30549416
Phenotypes for gene: ADGRG6 were set to Lethal congenital contracture syndrome 9; OMIM #616503
Review for gene: ADGRG6 was set to RED
Added comment: 1 family with 2 patients with profound ID, severe speech impairment, microcephaly, seizures, spasticity, and cerebellar hypoplasia, with homozygous missense variation in ADGRG6 (GPR126). No functional studies.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1352 CDK8 Zornitza Stark gene: CDK8 was added
gene: CDK8 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
Mode of inheritance for gene: CDK8 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CDK8 were set to 30905399
Phenotypes for gene: CDK8 were set to Intellectual disability; dysmorphism; congenital abnormalities; seizures
Review for gene: CDK8 was set to GREEN
Added comment: 12 unrelated individuals, missense variants demonstrated as de novo in 10. All variants localize to the ATP-binding pocket of the kinase domain.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1350 GRIA2 Chirag Patel gene: GRIA2 was added
gene: GRIA2 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
Mode of inheritance for gene: GRIA2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: GRIA2 were set to PMID: 31300657
Phenotypes for gene: GRIA2 were set to no OMIM number yet
Review for gene: GRIA2 was set to GREEN
Added comment: 28 unrelated patients with ID, ASD, Rett-like features, seizures/EE, and de novo heterozygous GRIA2 mutations. In functional expression studies, mutations led to a decrease in agonist-evoked current mediated by mutant subunits compared to wild-type channels. When GluA2 subunits are co-expressed with GluA1, most GRIA2 mutations cause a decreased current amplitude and some also affect voltage rectification.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1349 GTF2E2 Chirag Patel changed review comment from: 2 unrelated non-photosensitive TTD families with homozygous missense mutation in GTF2E2. Functional evidence showing mutant TFIIEβ strongly reduces the total amount of the entire TFIIE complex, with a remarkable temperature-sensitive transcription defect, which strikingly correlates with the phenotypic aggravation of key clinical symptoms after episodes of high fever. Induced pluripotent stem cell reprogramming of patient fibroblasts followed by in vitro erythroid differentiation, showed a clear hematopoietic defect during late-stage differentiation associated with hemoglobin subunit imbalance.
Sources: Literature; to: 2 unrelated non-photosensitive TTD families (3 affected) with homozygous missense mutation in GTF2E2. Functional evidence showing mutant TFIIEβ strongly reduces the total amount of the entire TFIIE complex, with a remarkable temperature-sensitive transcription defect, which strikingly correlates with the phenotypic aggravation of key clinical symptoms after episodes of high fever. Induced pluripotent stem cell reprogramming of patient fibroblasts followed by in vitro erythroid differentiation, showed a clear hematopoietic defect during late-stage differentiation associated with hemoglobin subunit imbalance.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1348 GTF2E2 Chirag Patel gene: GTF2E2 was added
gene: GTF2E2 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
Mode of inheritance for gene: GTF2E2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GTF2E2 were set to PMID: 28973399
Phenotypes for gene: GTF2E2 were set to Trichothiodystrophy 6, nonphotosensitive; OMIM #616943
Review for gene: GTF2E2 was set to AMBER
Added comment: 2 unrelated non-photosensitive TTD families with homozygous missense mutation in GTF2E2. Functional evidence showing mutant TFIIEβ strongly reduces the total amount of the entire TFIIE complex, with a remarkable temperature-sensitive transcription defect, which strikingly correlates with the phenotypic aggravation of key clinical symptoms after episodes of high fever. Induced pluripotent stem cell reprogramming of patient fibroblasts followed by in vitro erythroid differentiation, showed a clear hematopoietic defect during late-stage differentiation associated with hemoglobin subunit imbalance.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1346 KDM3B Chirag Patel gene: KDM3B was added
gene: KDM3B was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
Mode of inheritance for gene: KDM3B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KDM3B were set to PMID: 30929739
Phenotypes for gene: KDM3B were set to no OMIM number yet
Review for gene: KDM3B was set to GREEN
Added comment: 14 unrelated individuals and 3 affected parents with varying degrees of ID, DD, short stature, dysmorphism, and de novo or inherited pathogenic variants in KDM3B. No functional studies.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1344 LMAN2L Chirag Patel gene: LMAN2L was added
gene: LMAN2L was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
Mode of inheritance for gene: LMAN2L was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: LMAN2L were set to PMID: 31020005; 26566883
Phenotypes for gene: LMAN2L were set to ?Mental retardation, autosomal recessive, 52; OMIM #616887
Review for gene: LMAN2L was set to AMBER
Added comment: 1 consanguineous family with 7 individuals with ID and epilepsy, with homozygous LMAN2L missense mutation. Segregated with disease in family, and unaffected family members were heterozygous variant carriers. No functional studies.

1 non-consanguineous family with 4 affected with heterozygous frameshift LMAN2L mutation. Segregates in family. Mutation eliminates LMAN2L's endoplasmic reticulum retention signal and mislocalizes the protein from that compartment to the plasma membrane.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1343 LSM1 Chirag Patel gene: LSM1 was added
gene: LSM1 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
Mode of inheritance for gene: LSM1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LSM1 were set to PMID: 31010896
Phenotypes for gene: LSM1 were set to no OMIM number yet
Review for gene: LSM1 was set to RED
Added comment: 1 family with 2 siblings with global DD, multiple congenital anomalies, and abnormal eye movements, with homozygous splice variant in LSM1. Segregated with the phenotype in the family. Expression studies revealed absence of expression of the canonical isoform in the affected individuals. The Lsm1 knockout mice have a partially overlapping phenotype that affects the brain, heart, and eye.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1341 LSS Chirag Patel gene: LSS was added
gene: LSS was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
Mode of inheritance for gene: LSS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LSS were set to PMID: 30723320
Phenotypes for gene: LSS were set to Cataract 44, OMIM #616509; Hypotrichosis 14, OMIM #618275
Review for gene: LSS was set to GREEN
Added comment: Expanded the phenotypic spectrum of LSS to a recessive neuroectodermal syndrome formerly named alopecia with mental retardation (APMR) syndrome. Ten APMR individuals from 6 unrelated families with biallelic variants in LSS. Quantification of cholesterol and its precursors did not reveal noticeable imbalance.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1340 MACROD2 Chirag Patel gene: MACROD2 was added
gene: MACROD2 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
Mode of inheritance for gene: MACROD2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MACROD2 were set to PMID: 31055587
Phenotypes for gene: MACROD2 were set to no OMIM number yet
Review for gene: MACROD2 was set to RED
Added comment: 1 family with a few affected with microcephaly, ID, dysmorphic features, and polydactyly. Deletion of chromosome 20p12.1 involving the MACROD2 gene was found in several members of the family. qRT-PCR showed higher levels of a MACROD2 mRNA isoform in the individuals carrying the deletion.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1338 MAST1 Chirag Patel gene: MAST1 was added
gene: MAST1 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
Mode of inheritance for gene: MAST1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MAST1 were set to PMID: 31721002; 30449657
Phenotypes for gene: MAST1 were set to Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations; OMIM #618273
Review for gene: MAST1 was set to GREEN
Added comment: 6 unrelated patients with mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations (MCCCHCM) with de novo heterozygous mutations in MAST1 gene. In vitro functional studies showed that 1 of the variants (lys276del) increased MAST1 binding to microtubules compared to controls. Mutant mice heterozygous for a Mast1 leu278del allele showed a thicker corpus callosum compared to wildtype, and an overall reduction in cortical volume and thickness and decreased cerebellar volume and number of granule and Purkinje cells due to increased apoptosis compared to controls.

1 Emirati patient with ID, microcephaly, and dysmorphic features, with missense variant in MAST1.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1337 MEPCE Chirag Patel gene: MEPCE was added
gene: MEPCE was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
Mode of inheritance for gene: MEPCE was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MEPCE were set to PMID: 31467394
Phenotypes for gene: MEPCE were set to no OMIM number yet
Review for gene: MEPCE was set to RED
Added comment: 1 patient with global DD and seizures with de novo MEPCE nonsense variant. mRNA and protein analyses identified nonsense-mediated mRNA decay to underlie the decreased amount of MEPCE in patient fibroblasts followed by LARP7 and 7SK snRNA downregulation and HEXIM1 upregulation. Flavopiridol treatment and ectopic MEPCE protein expression in patient fibroblasts rescued increased expression of six RNAP II-sensitive genes and suggested a possible repressive effect of MEPCE on P-TEFb-dependent transcription of specific genes.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1335 NCAPD2 Chirag Patel gene: NCAPD2 was added
gene: NCAPD2 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
Mode of inheritance for gene: NCAPD2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NCAPD2 were set to PMID: 31056748; 27737959; 28097321
Phenotypes for gene: NCAPD2 were set to ?Microcephaly 21, primary, autosomal recessive; OMIM #617983
Review for gene: NCAPD2 was set to AMBER
Added comment: 1 family with 2 sibs with microcephaly and ID, and homozygous NCAPD2 mutation, which segregated with disease. No functional evidence.

1 family with 1 affected and homozygous NCAPD2 mutation, which segregated with disease. Patient fibroblasts showed impaired chromosome segregation and abnormal recovery from mitotic condensation compared to controls.

1 family with 2 sibs with microcephaly, growth retardation, and ID, and homozygous NCAPD2 mutation, which segregated with disease. Functional studies of the variants and studies of patient cells were not performed.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1333 NFASC Chirag Patel gene: NFASC was added
gene: NFASC was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
Mode of inheritance for gene: NFASC was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NFASC were set to PMID: 31501903; 28940097; 30124836; 30850329; 31608123
Phenotypes for gene: NFASC were set to Neurodevelopmental disorder with central and peripheral motor dysfunction; OMIM #618356
Review for gene: NFASC was set to GREEN
Added comment: > 10 unrelated families reported, exhibiting a neurodevelopmental disorder (intellectual disability, developmental delay, motor impairment, speech difficulties, early onset demyelinating neuropathy), with homozygous variants in NFASC. Segregated with the disorder in the family. Some studies with functional evidence.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1332 NLGN1 Chirag Patel gene: NLGN1 was added
gene: NLGN1 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
Mode of inheritance for gene: NLGN1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NLGN1 were set to PMID: 30460678
Phenotypes for gene: NLGN1 were set to no OMIM number yet
Review for gene: NLGN1 was set to RED
Added comment: homozygous variant in the NLGN1 gene found in a pair of monozygotic twin brothers with intellectual disability and autism. Segregated with disease. No functional studies.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1330 P4HTM Chirag Patel gene: P4HTM was added
gene: P4HTM was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
Mode of inheritance for gene: P4HTM was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: P4HTM were set to PMID: 25078763; 30940925
Phenotypes for gene: P4HTM were set to Hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities; OMIM #618493
Review for gene: P4HTM was set to GREEN
Added comment: 12 patients from 5 families with hypotonia, intellectual disability, and eye abnormalities, and homozygous or compound heterozygous pathogenic P4HTM gene variants. Segregated with the disorder in the families. In vitro functional expression studies of 3 of the P4HTM variants showed that they caused a significant decrease in the amount of soluble protein compared to wildtype.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1328 PAK1 Chirag Patel gene: PAK1 was added
gene: PAK1 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
Mode of inheritance for gene: PAK1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PAK1 were set to PMID: 31504246; 30290153
Phenotypes for gene: PAK1 were set to Intellectual developmental disorder with macrocephaly, seizures, and speech delay; OMIM #618158
Review for gene: PAK1 was set to GREEN
Added comment: 2 unrelated individuals with de novo PAK1 mutations, with developmental delay, secondary macrocephaly, seizures, and ataxic gait. Enhanced phosphorylation of the PAK1 targets JNK and AKT shown in fibroblasts of one subject and of c-JUN in those of both subjects compared with control subjects. In fibroblasts of the 2 affected individuals, they observed a trend toward enhanced PAK1 kinase activity. By using co-immunoprecipitation and size-exclusion chromatography, they observed a significantly reduced dimerization for both PAK1 mutants compared with wild-type PAK1.

4 unrelated individuals with intellectual disability, macrocephaly and seizures, with de novo heterozygous missense variants in PAK1.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1326 PHF21A Chirag Patel gene: PHF21A was added
gene: PHF21A was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
Mode of inheritance for gene: PHF21A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PHF21A were set to PMID: 31649809; 30487643; 22770980
Phenotypes for gene: PHF21A were set to no OMIM number yet.
Review for gene: PHF21A was set to GREEN
Added comment: 9 cases with intellectual disability and craniofacial anomalies (Potocki-Shaffer syndrome), with de novo truncating variants in PHF21A. No functional evidence of variants, but PHF21A is highly expressed in the human fetal brain, which is consistent with the neurodevelopmental phenotype.

2 other unrelated individuals with translocations disrupting PHF21A. Lymphoblastoid cell lines from translocation subjects showed derepression of the neuronal gene SCN3A and reduced LSD1 occupancy at the SCN3A promoter, supporting a direct functional consequence of PHF21A haploinsufficiency on transcriptional regulation.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1324 PIBF1 Chirag Patel gene: PIBF1 was added
gene: PIBF1 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
Mode of inheritance for gene: PIBF1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PIBF1 were set to PubMed: 26167768; 30858804; 29695797
Phenotypes for gene: PIBF1 were set to Joubert syndrome 33; OMIM #617767
Review for gene: PIBF1 was set to GREEN
Added comment: 1 family of Schmiedeleut Hutterite descent with 2 affected brothers with Joubert syndrome had homozygous missense mutation in PIBF1 gene. Parents were heterozygous.

2 other Hutterite families with 3 affected children and same homozygous missense mutation in PIBF1 gene, suggesting a founder effect.

2 other unrelated individuals with compound heterozygous mutations in PIBF1 gene.

1 unrelated individual with compound heterozygous variants in PIBF1 gene, and functional evidence in the frog Xenopus.

1 unrelated individual with another homozygous missense mutation in PIBF1 gene, but no and functional evidence.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1322 PIGB Chirag Patel gene: PIGB was added
gene: PIGB was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
Mode of inheritance for gene: PIGB was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PIGB were set to PubMed: 31256876
Phenotypes for gene: PIGB were set to Epileptic encephalopathy, early infantile, 80; OMIM #618580
Review for gene: PIGB was set to GREEN
Added comment: 10 unrelated families with biallelic mutations in PIGB, with global DD and/or ID, and seizures. Two had polymicrogyria, 4 had a peripheral neuropathy, and 2 had a clinical diagnosis of DOORS syndrome. Patient lymphocytes and fibroblasts showed variably decreased levels of cell surface GPI-anchored proteins, including CD16 and CD59. In vitro functional expression studies performed with some of the mutations in PIGB-null CHO cells showed that the mutant proteins were unable to fully restore expression of GPI-anchored surface proteins, consistent with a loss of function, although the mutations had variable effects.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1320 PIGU Chirag Patel gene: PIGU was added
gene: PIGU was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
Mode of inheritance for gene: PIGU was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PIGU were set to PMID: 31353022
Phenotypes for gene: PIGU were set to Glycosylphosphatidylinositol biosynthesis defect 21; OMIM #618590
Review for gene: PIGU was set to GREEN
Added comment: 5 patients from 3 unrelated families, with homozygous missense mutations in the PIGU gene. All individuals presented with global DD, severe-to-profound ID, muscular hypotonia, seizures, brain anomalies, scoliosis, and mild facial dysmorphism. Flow cytometric analysis of patient granulocytes showed a characteristic pattern, with reduced cell surface expression of CD16 and CD24. In addition, patient B cells showed increased expression of free GPI anchors determined by a specific antibody, T5. The findings suggested that PIGU mutations reduce the function of the GPI transamidase complex, leading to accumulation of free GPI anchors on the cell surface.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1319 PISD Chirag Patel edited their review of gene: PISD: Changed publications: PMID: 31263216, 30858161
Intellectual disability syndromic and non-syndromic v0.1319 PISD Chirag Patel edited their review of gene: PISD: Changed rating: GREEN
Intellectual disability syndromic and non-syndromic v0.1317 PISD Chirag Patel changed review comment from: 4 individuals in 2 unrelated but consanguineous families from Portugal and Brazil affected by early-onset retinal degeneration, sensorineural hearing loss, microcephaly, intellectual disability, and skeletal dysplasia with scoliosis and short stature (Liberfarb syndrome). Affected individuals shared a homozygous 10-bp deletion immediately upstream of the last exon of the PISD gene. In HEK293T cells, this variant led to aberrant splicing of PISD transcripts.
Sources: Literature; to: 4 individuals in 2 unrelated but consanguineous families from Portugal and Brazil affected by early-onset retinal degeneration, sensorineural hearing loss, microcephaly, intellectual disability, and skeletal dysplasia with scoliosis and short stature (Liberfarb syndrome). Affected individuals shared a homozygous 10-bp deletion immediately upstream of the last exon of the PISD gene. In HEK293T cells, this variant led to aberrant splicing of PISD transcripts.

1 family with 2 sisters with congenital cataracts, short stature, and white matter changes identified compound heterozygous variants in the PISD gene. Decreased conversion of phosphatidylserine to PE in patient fibroblasts is consistent with impaired phosphatidylserine decarboxylase (PISD) enzyme activity.
Intellectual disability syndromic and non-syndromic v0.1317 PISD Chirag Patel gene: PISD was added
gene: PISD was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
Mode of inheritance for gene: PISD was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PISD were set to PMID: 31263216
Phenotypes for gene: PISD were set to no OMIM number yet.
Review for gene: PISD was set to AMBER
Added comment: 4 individuals in 2 unrelated but consanguineous families from Portugal and Brazil affected by early-onset retinal degeneration, sensorineural hearing loss, microcephaly, intellectual disability, and skeletal dysplasia with scoliosis and short stature (Liberfarb syndrome). Affected individuals shared a homozygous 10-bp deletion immediately upstream of the last exon of the PISD gene. In HEK293T cells, this variant led to aberrant splicing of PISD transcripts.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1315 POU3F3 Chirag Patel gene: POU3F3 was added
gene: POU3F3 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
Mode of inheritance for gene: POU3F3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: POU3F3 were set to PMID: 24550763; 31303265
Phenotypes for gene: POU3F3 were set to no OMIM number yet.
Review for gene: POU3F3 was set to GREEN
Added comment: 19 individuals with DD/ID/speech issues and heterozygous POU3F3 disruptions, most of which were de novo variants. Positive functional cell-based analyses of pathogenic variants.

1 patient reported with whole gene deletion and ID.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1313 PPP2CA Chirag Patel gene: PPP2CA was added
gene: PPP2CA was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
Mode of inheritance for gene: PPP2CA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PPP2CA were set to PMID: 30595372
Phenotypes for gene: PPP2CA were set to Neurodevelopmental disorder and language delay with or without structural brain abnormalities; OMIM #618354
Review for gene: PPP2CA was set to GREEN
Added comment: 15 unrelated patients with a neurodevelopmental disorder with de novo heterozygous PPP2CA mutations, and 1 with partial deletion of PPP2CA. Functional studies showed complete PP2A dysfunction in 4 individuals with seemingly milder ID, hinting at haploinsufficiency. Ten other individuals showed mutation-specific biochemical distortions, including poor expression, altered binding to the A subunit and specific B-type subunits, and impaired phosphatase activity and C-terminal methylation.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1311 PUS7 Chirag Patel gene: PUS7 was added
gene: PUS7 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
Mode of inheritance for gene: PUS7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PUS7 were set to PMID: 30526862; 30778726; 31583274
Phenotypes for gene: PUS7 were set to Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature; OMIM #618342
Review for gene: PUS7 was set to GREEN
Added comment: 11 patients from 6 families with ID, speech delay, short stature, microcephaly, and aggressive behavior, with homozygous PUS7 mutations, which segregated with disease.

One study showed disease-related variants lead to abolishment of PUS7 activity on both tRNA and mRNA substrates. pus7 knockout in Drosophila melanogaster results in a number of behavioral defects, including increased activity, disorientation, and aggressiveness supporting that neurological defects are caused by PUS7 variants.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1309 RNF113A Chirag Patel gene: RNF113A was added
gene: RNF113A was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
Mode of inheritance for gene: RNF113A was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for gene: RNF113A were set to PMID: 25612912; 31793730
Phenotypes for gene: RNF113A were set to ?Trichothiodystrophy 5, nonphotosensitive; OMIM #300953
Review for gene: RNF113A was set to AMBER
Added comment: 1 family of 2 male cousins with IUGR, progressive microcephaly, profound ID, genital anomalies, and severe linear growth failure, and nonsense Q301X mutation in RNF113A gene. Segregated with disease in the family. The mutation markedly reduced RNF113A protein expression in extracts from lymphoblastoid cell lines derived from the affected individuals.

2 fetuses affected with abnormalities similar to previous report, with the same nonsense Q301X mutation in RNF113A gene (can not access paper to see if from same family or functional evidence).
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1307 SCAMP5 Chirag Patel gene: SCAMP5 was added
gene: SCAMP5 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
Mode of inheritance for gene: SCAMP5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SCAMP5 were set to PMID: 31439720
Phenotypes for gene: SCAMP5 were set to no OMIM number yet
Review for gene: SCAMP5 was set to AMBER
Added comment: 2 unrelated individuals with ASD, ID and seizures, with the same heterozygous de novo variant in SCAMP5 (p.Gly302Trp). Western blot analysis of proteins overexpressed in the Drosophila fat body showed strongly reduced levels of the SCAMP p.Gly302Trp protein compared with the wild-type protein, indicating that the mutant either reduced expression or increased turnover of the protein. The expression of the fly homologue of the human SCAMP5 p.Gly180Trp mutation caused similar eye and neuronal phenotypes as the expression of SCAMP RNAi, suggesting a dominant-negative effect.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1305 SCAPER Chirag Patel gene: SCAPER was added
gene: SCAPER was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
Mode of inheritance for gene: SCAPER was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SCAPER were set to PMID: 28794130; 31069901; 31192531; 30723319
Phenotypes for gene: SCAPER were set to Intellectual developmental disorder and retinitis pigmentosa; OMIM #618195
Review for gene: SCAPER was set to GREEN
Added comment: 28 patients from 14 unrelated families with ID and retinitis pigmentosa (some with BBS phenotype), and homozygous or compound heterozygous mutations in SCAPER gene. No functional evidence of specific variants.

Analyses of SCAPER expression in human and mouse brain revealed an upregulation of SCAPER expression during cortical development and a higher expression of SCAPER in neurons compared to neural progenitors.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1303 BRSK2 Zornitza Stark gene: BRSK2 was added
gene: BRSK2 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
Mode of inheritance for gene: BRSK2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: BRSK2 were set to 30879638
Phenotypes for gene: BRSK2 were set to Intellectual disability; autism
Review for gene: BRSK2 was set to GREEN
Added comment: Nine unrelated individuals with heterozygous variants in this gene; six confirmed de novo (parents available).
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1301 SEMA5A Chirag Patel gene: SEMA5A was added
gene: SEMA5A was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
Mode of inheritance for gene: SEMA5A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SEMA5A were set to PMID: 26395558
Phenotypes for gene: SEMA5A were set to no OMIM number yet
Review for gene: SEMA5A was set to AMBER
Added comment: 1 patient with de novo translocation t(5;22)(p15.3;q11.21) and ASD and ID. At the translocation breakpoint on chromosome 5, they observed a 861-kb deletion encompassing the end of the SEMA5A gene. No functional studies.

2 patients with ASD and predicted deleterious heterozygous variants (maternally inherited). No functional studies.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1299 BCORL1 Zornitza Stark gene: BCORL1 was added
gene: BCORL1 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
Mode of inheritance for gene: BCORL1 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for gene: BCORL1 were set to 24123876; 30941876
Phenotypes for gene: BCORL1 were set to Shukla-Vernon syndrome, MIM#301029
Review for gene: BCORL1 was set to GREEN
Added comment: Four unrelated families reported altogether; some mothers mildly affected.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1298 SMARCC2 Chirag Patel gene: SMARCC2 was added
gene: SMARCC2 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
Mode of inheritance for gene: SMARCC2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SMARCC2 were set to PMID: 30580808
Phenotypes for gene: SMARCC2 were set to Coffin-Siris syndrome 8; OMIM #618362
Review for gene: SMARCC2 was set to GREEN
Added comment: 15 individuals with variable degrees of neurodevelopmental delay, growth retardation, prominent speech impairment, hypotonia, feeding difficulties, behavioral abnormalities, and dysmorphic features. They found heterozygous de novo SMARCC2 variants, but no functional evidence of specific variants. Transcriptomic analysis of fibroblasts from affected individuals highlighted a group of differentially expressed genes with possible roles in regulation of neuronal development and function, namely H19, SCRG1, RELN, and CACNB4.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1296 SMARCD1 Chirag Patel gene: SMARCD1 was added
gene: SMARCD1 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
Mode of inheritance for gene: SMARCD1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SMARCD1 were set to PMID: 30879640
Phenotypes for gene: SMARCD1 were set to no OMIM number yet
Review for gene: SMARCD1 was set to GREEN
Added comment: 5 individuals with heterozygous SMARCD1 variants (4 de novo, 1 unk), and developmental delay, intellectual disability, hypotonia, feeding difficulties, dysmorphisms, and small hands and feet. No functional evidence of some variants was not conclusive with immunoblot or co-immunoprecipitation studies. Targeted knockdown of Drosophila ortholog Bap60 in the mushroom body of adult flies causes defects in long-term memory. Mushroom-body-specific transcriptome analysis revealed that Bap60 is required for context-dependent expression of genes involved in neuron function and development in juvenile flies when synaptic connections are actively being formed in response to experience. T
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1294 BCL11B Zornitza Stark gene: BCL11B was added
gene: BCL11B was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
Mode of inheritance for gene: BCL11B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: BCL11B were set to 29985992
Phenotypes for gene: BCL11B were set to Intellectual developmental disorder with dysmorphic facies, speech delay, and T-cell abnormalities, MIM# 618092
Review for gene: BCL11B was set to GREEN
Added comment: Nine unrelated individuals, all but one with de novo variants in this gene and syndromic ID/immunodeficiency. Most variants located in the last exon (exon 4) and are predicted to escape nonsense-mediated mRNA decay.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1293 SNRPE Chirag Patel edited their review of gene: SNRPE: Changed rating: RED
Intellectual disability syndromic and non-syndromic v0.1293 SNRPE Chirag Patel gene: SNRPE was added
gene: SNRPE was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
Mode of inheritance for gene: SNRPE was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SNRPE were set to Hypotrichosis 11; OMIM #615059
Review for gene: SNRPE was set to AMBER
Added comment: 1 patient with de novo heterozygous missense SNRPE mutation, with non-syndromic primary microcephaly and intellectual disability. SNRPE encodes SmE and they showed that the microcephaly-linked SmE variant is unable to interact with the SMN complex and as a consequence fails to assemble into U snRNPs. This results in widespread mRNA splicing alterations in fibroblast cells derived from this patient. Similar alterations were observed in HEK293 cells upon SmE depletion that could be rescued by the expression of wild type but not mutant SmE. Depletion of SmE in zebrafish causes aberrant mRNA splicing alterations and reduced brain size, reminiscent of the patient microcephaly phenotype.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1291 SOX4 Chirag Patel gene: SOX4 was added
gene: SOX4 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
Mode of inheritance for gene: SOX4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SOX4 were set to PMID: 30661772
Phenotypes for gene: SOX4 were set to Coffin-Siris syndrome 10; OMIM #618506
Review for gene: SOX4 was set to GREEN
Added comment: 4 patients with syndromic DD/ID and de novo mutations in SOX4 gene. Functional assays demonstrated that the SOX4 proteins carrying these variants were unable to bind DNA in vitro and transactivate SOX reporter genes in cultured cells.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1289 SVBP Chirag Patel gene: SVBP was added
gene: SVBP was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
Mode of inheritance for gene: SVBP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SVBP were set to PMID: 31363758; 30607023
Phenotypes for gene: SVBP were set to Neurodevelopmental disorder with ataxia, hypotonia, and microcephaly; OMIM #618569
Review for gene: SVBP was set to GREEN
Added comment: 5 unrelated families with homozygous mutations in SVBP. The mutations segregated with the disorder in all families. In vitro functional cellular expression studies showed that protein levels of the SVBP mutants were barely detectable, suggesting instability, and that the mutant proteins had lost VASH/SVBP catalytic detyrosination activity toward tubulin. Knockdown of about 50% Svbp expression using shRNA in rat hippocampal neurons impaired the formation of excitatory synapses compared to controls.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1287 TANC2 Chirag Patel gene: TANC2 was added
gene: TANC2 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
Mode of inheritance for gene: TANC2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TANC2 were set to PMID: 31616000
Phenotypes for gene: TANC2 were set to no OMIM number yet
Review for gene: TANC2 was set to GREEN
Added comment: 19 families with potentially disruptive heterozygous TANC2 variants, including 16 likely gene-disrupting mutations and three intragenic microdeletions. Patients presented with autism, intellectual disability, delayed language and motor development, epilepsy, facial dysmorphism, with complex psychiatric dysfunction or behavioral problems in adult probands or carrier parents. No functional evidence of specific variants, but they show TANC2 is expressed broadly in the human developing brain, especially in excitatory neurons and glial cells, and shows a more restricted pattern in Drosophila glial cells where its disruption affects behavioral outcomes.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1285 ATN1 Zornitza Stark gene: ATN1 was added
gene: ATN1 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
Mode of inheritance for gene: ATN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ATN1 were set to 30827498
Phenotypes for gene: ATN1 were set to Congenital hypotonia, epilepsy, developmental delay, and digital anomalies, MIM#618494
Review for gene: ATN1 was set to GREEN
Added comment: Eight unrelated individuals with de novo heterozygous variants in this gene and syndromic ID; all variants result in substitutions within the highly conserved 16-amino acid histidine-rich 'HX repeat' motif near the C terminus.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1283 TARS Chirag Patel gene: TARS was added
gene: TARS was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
Mode of inheritance for gene: TARS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TARS were set to PMID: 31374204
Phenotypes for gene: TARS were set to Trichothiodystrophy 7, nonphotosensitive; OMIM #618546
Review for gene: TARS was set to AMBER
Added comment: Clinical features of trichothiodystrophy (TTD) include ichthyosis, intellectual disability, decreased fertility, short stature.

2 unrelated patients with non-photosensitive-TTD, in whom limited clinical information was available (one with DD): one compound heterozygous TARS variants, second homozygous for TARS variant. They showed that the variants had a profound effect on TARS protein stability and enzymatic function.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1282 TEMN3-AS1 Chirag Patel changed review comment from: 3 unrelated families, but no functional evidence.
Sources: Literature; to: 3 unrelated families with DD/ID as part of syndromic microphthalmia, but no functional evidence.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1281 TEMN3-AS1 Chirag Patel gene: TEMN3-AS1 was added
gene: TEMN3-AS1 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
Mode of inheritance for gene: TEMN3-AS1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TEMN3-AS1 were set to PubMed: 27103084; 30513139; 30513139
Phenotypes for gene: TEMN3-AS1 were set to ?Microphthalmia, isolated, with coloboma 9, OMIM #615145; Microphthalmia, syndromic 15, OMIM #615145
Review for gene: TEMN3-AS1 was set to AMBER
Added comment: 3 unrelated families, but no functional evidence.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1279 APC2 Zornitza Stark gene: APC2 was added
gene: APC2 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
Mode of inheritance for gene: APC2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: APC2 were set to 31585108
Phenotypes for gene: APC2 were set to Cortical dysplasia, complex, with other brain malformations 10, MIM#618677
Review for gene: APC2 was set to GREEN
Added comment: 12 individuals from 8 unrelated families; intellectual disability, seizures, cortical dysplasia including posterior to anterior predominant pattern of lissencephaly, heterotopias, paucity of white matter, thin corpus callosum.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1277 VAMP2 Chirag Patel gene: VAMP2 was added
gene: VAMP2 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
Mode of inheritance for gene: VAMP2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: VAMP2 were set to PMID: 30929742
Phenotypes for gene: VAMP2 were set to no OMIM number yet
Review for gene: VAMP2 was set to GREEN
Added comment: 5 unrelated patients with heterozygous de novo mutations in VAMP2, presenting with a neurodevelopmental disorder characterized by axial hypotonia, intellectual disability, and autistic features. Affected individuals carrying de novo non-synonymous variants involving the C-terminal region presented a more severe phenotype with additional neurological features, including central visual impairment, hyperkinetic movement disorder, and epilepsy or electroencephalography abnormalities. Reconstituted fusion involving a lipid-mixing assay indicated impairment in vesicle fusion as one of the possible associated disease mechanisms.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1275 ZMIZ1 Chirag Patel gene: ZMIZ1 was added
gene: ZMIZ1 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
Mode of inheritance for gene: ZMIZ1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ZMIZ1 were set to PubMed: 30639322
Phenotypes for gene: ZMIZ1 were set to Neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies; OMIM #618659
Review for gene: ZMIZ1 was set to GREEN
Added comment: 28 families with spectrum of neurodevelopmental features (including ID, ASD, and ADHD) due to de novo ZNF292 variants (1 family inherited). No functional evidence of specific variants, but ZNF292 is highly expressed in the developing human brain.


14 unrelated patients with neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies, and de novo heterozygous mutations in the ZMIZ1 gene. Transfection of 3 variants (T300M, c.3112dupA, and K91R) into HEK293T cells resulted in decreased induction of luciferase activity compared to wildtype (although the change for K91R was not statistically significant), suggesting impaired coactivation activity of the mutant proteins. Electroporation of these 3 mutants into progenitor cells in the ventricular zone of embryonic mice cortices resulted in defective neuronal migration to the cortex, as well as morphologic abnormalities of the neurons manifest as rounded cells with aberrantly oriented processes. These findings suggested that the ZMIZ1 mutations disrupted proper neuronal polarization and neuronal migration in the developing cortex. Functional studies of the other variants and additional studies of patient cells were not performed.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1273 ZNF292 Chirag Patel gene: ZNF292 was added
gene: ZNF292 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
Mode of inheritance for gene: ZNF292 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ZNF292 were set to PMID: 31723249
Phenotypes for gene: ZNF292 were set to no OMIM number yet
Review for gene: ZNF292 was set to GREEN
Added comment: 28 families with spectrum of neurodevelopmental features (including ID, ASD, and ADHD) due to de novo ZNF292 variants (1 family inherited). No functional evidence of specific variants, but ZNF292 is highly expressed in the developing human brain.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1270 ADGRB3 Zornitza Stark gene: ADGRB3 was added
gene: ADGRB3 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
Mode of inheritance for gene: ADGRB3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ADGRB3 were set to 30659260; 18628273
Phenotypes for gene: ADGRB3 were set to Intellectual disability
Review for gene: ADGRB3 was set to RED
Added comment: Single family with intragenic bi-allelic duplications and ID reported; association studies with schizophrenia.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1268 ACTL6B Zornitza Stark gene: ACTL6B was added
gene: ACTL6B was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
Mode of inheritance for gene: ACTL6B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ACTL6B were set to 31134736; 31031012; 30656450; 30237576
Phenotypes for gene: ACTL6B were set to Epileptic encephalopathy, early infantile, 76, MIM# 618468; Intellectual developmental disorder with severe speech and ambulation defects, MIM# 618470
Review for gene: ACTL6B was set to GREEN
Added comment: Multiple affected individuals reported, main phenotype is ID/EE.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1262 STT3A Zornitza Stark Added comment: Comment on list classification: Two further recent publications identified, bringing the total number of reported families to three.
Intellectual disability syndromic and non-syndromic v0.1260 THAP1 Zornitza Stark Marked gene: THAP1 as ready
Intellectual disability syndromic and non-syndromic v0.1260 THAP1 Zornitza Stark Gene: thap1 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1255 ZNF462 Zornitza Stark reviewed gene: ZNF462: Rating: GREEN; Mode of pathogenicity: None; Publications: 31361404, 28513610; Phenotypes: Weiss-Kruszka syndrome, OMIM# 618619; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Intellectual disability syndromic and non-syndromic v0.1252 SLC25A4 Chirag Patel edited their review of gene: SLC25A4: Changed rating: RED
Intellectual disability syndromic and non-syndromic v0.1252 SLC25A4 Chirag Patel edited their review of gene: SLC25A4: Changed rating: AMBER
Intellectual disability syndromic and non-syndromic v0.1252 SLC25A4 Chirag Patel reviewed gene: SLC25A4: Rating: ; Mode of pathogenicity: None; Publications: PMID: 30013777, 27693233; Phenotypes: Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) AD, OMIM #617184, Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) AR, OMIM #615418, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2, OMIM #609283; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1252 SLC25A4 Zornitza Stark Phenotypes for gene: SLC25A4 were changed from to Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) AD, MIM#617184; Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) AR, MIM#615418; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2, MIM#609283
Intellectual disability syndromic and non-syndromic v0.1251 SLC25A4 Zornitza Stark Mode of inheritance for gene: SLC25A4 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1249 SLC25A4 Zornitza Stark reviewed gene: SLC25A4: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) AD, MIM#617184, Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) AR, MIM#615418, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2, MIM#609283; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1248 SLC29A3 Chirag Patel Source Genetic Health Queensland was removed from SLC29A3.
Source Expert list was added to SLC29A3.
Mode of inheritance for gene SLC29A3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC29A3 were changed from to Histiocytosis-lymphadenopathy plus syndrome; OMIM #602782
Intellectual disability syndromic and non-syndromic v0.1247 SLC29A3 Chirag Patel reviewed gene: SLC29A3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Histiocytosis-lymphadenopathy plus syndrome, OMIM #602782; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1246 SLC2A10 Chirag Patel Source Genetic Health Queensland was removed from SLC2A10.
Source Expert list was added to SLC2A10.
Mode of inheritance for gene SLC2A10 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC2A10 were changed from to Arterial tortuosity syndrome; OMIM #208050
Intellectual disability syndromic and non-syndromic v0.1245 SLC2A10 Chirag Patel reviewed gene: SLC2A10: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Arterial tortuosity syndrome, OMIM #208050; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1244 SLC35A3 Chirag Patel Source Genetic Health Queensland was removed from SLC35A3.
Source Expert list was added to SLC35A3.
Mode of inheritance for gene SLC35A3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC35A3 were changed from to ?Arthrogryposis, mental retardation, and seizures; OMIM #615553
Publications for gene SLC35A3 were changed from PMID: 28328131; 24031089 to PMID: 28328131; 24031089
Intellectual disability syndromic and non-syndromic v0.1243 SLC35A3 Chirag Patel reviewed gene: SLC35A3: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 28328131, 24031089; Phenotypes: ?Arthrogryposis, mental retardation, and seizures, OMIM #615553; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1242 SLC39A4 Chirag Patel Source Genetic Health Queensland was removed from SLC39A4.
Source Expert list was added to SLC39A4.
Mode of inheritance for gene SLC39A4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC39A4 were changed from to Acrodermatitis enteropathica; OMIM #201100
Intellectual disability syndromic and non-syndromic v0.1241 SLC39A4 Chirag Patel reviewed gene: SLC39A4: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Acrodermatitis enteropathica, OMIM #201100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1237 SLC25A20 Zornitza Stark reviewed gene: SLC25A20: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Carnitine-acylcarnitine translocase deficiency, MIM#212138; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1237 SLC5A2 Chirag Patel Source Genetic Health Queensland was removed from SLC5A2.
Source Expert list was added to SLC5A2.
Mode of inheritance for gene SLC5A2 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: SLC5A2 were changed from to Renal glucosuria; OMIM #233100
Intellectual disability syndromic and non-syndromic v0.1236 SLC5A2 Chirag Patel reviewed gene: SLC5A2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Renal glucosuria, OMIM #233100; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1235 SLC9A7 Chirag Patel Source Genetic Health Queensland was removed from SLC9A7.
Source Expert list was added to SLC9A7.
Mode of inheritance for gene SLC9A7 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: SLC9A7 were changed from to Intellectual developmental disorder, X-linked 108; OMIM #301024
Publications for gene SLC9A7 were changed from PubMed: 30335141 to PubMed: 30335141
Intellectual disability syndromic and non-syndromic v0.1234 SLC9A7 Chirag Patel reviewed gene: SLC9A7: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 30335141; Phenotypes: Intellectual developmental disorder, X-linked 108, OMIM #301024; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Intellectual disability syndromic and non-syndromic v0.1233 SLC25A19 Zornitza Stark Phenotypes for gene: SLC25A19 were changed from to Microcephaly, Amish type, MIM#607196; Thiamine metabolism dysfunction syndrome 4 (progressive polyneuropathy type), MIM#613710
Intellectual disability syndromic and non-syndromic v0.1233 SMCHD1 Chirag Patel Source Genetic Health Queensland was removed from SMCHD1.
Source Expert list was added to SMCHD1.
Mode of inheritance for gene SMCHD1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SMCHD1 were changed from to Bosma arhinia microphthalmia syndrome, OMIM #603457; Fascioscapulohumeral muscular dystrophy 2, digenic; OMIM #158901
Intellectual disability syndromic and non-syndromic v0.1231 SMCHD1 Chirag Patel reviewed gene: SMCHD1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Bosma arhinia microphthalmia syndrome, OMIM #603457, Fascioscapulohumeral muscular dystrophy 2, digenic, OMIM #158901; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1229 SLC25A19 Zornitza Stark reviewed gene: SLC25A19: Rating: AMBER; Mode of pathogenicity: None; Publications: 31506564, 31295743, 12185364, 19798730; Phenotypes: Microcephaly, Amish type, MIM#607196, Thiamine metabolism dysfunction syndrome 4 (progressive polyneuropathy type), MIM#613710; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1228 SMG6 Chirag Patel reviewed gene: SMG6: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Intellectual disability syndromic and non-syndromic v0.1227 SNAP25 Chirag Patel gene: SNAP25 was added
gene: SNAP25 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Expert list
Mode of inheritance for gene: SNAP25 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SNAP25 were set to PMID: 25003006; 29100083; 28135719
Phenotypes for gene: SNAP25 were set to ?Myasthenic syndrome, congenital, 18; OMIM #616330
Review for gene: SNAP25 was set to GREEN
Added comment: ID neurodevelopmental disorder rather than muscle disorder, so OMIM entry needs to be edited.
> 5 patients reported.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.1223 SLC25A13 Zornitza Stark reviewed gene: SLC25A13: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Citrullinemia, type II, neonatal-onset, MIM#605814; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1221 SLC22A5 Zornitza Stark reviewed gene: SLC22A5: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Carnitine deficiency, systemic primary, MIM#212140; Mode of inheritance: None
Intellectual disability syndromic and non-syndromic v0.1220 SNRPA Chirag Patel Source Genetic Health Queensland was removed from SNRPA.
Source Expert list was added to SNRPA.
Mode of inheritance for gene SNRPA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SNRPA were changed from to no OMIM # yet
Publications for gene SNRPA were changed from PMID: 29437235 to PMID: 29437235
Intellectual disability syndromic and non-syndromic v0.1219 SNRPA Chirag Patel reviewed gene: SNRPA: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 29437235; Phenotypes: no OMIM number yet; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1219 SLC20A2 Zornitza Stark Phenotypes for gene: SLC20A2 were changed from to Basal ganglia calcification, idiopathic, 1, MIM#213600
Intellectual disability syndromic and non-syndromic v0.1216 SLC20A2 Zornitza Stark reviewed gene: SLC20A2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Basal ganglia calcification, idiopathic, 1, MIM#213600; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1215 SNRPN Chirag Patel Source Genetic Health Queensland was removed from SNRPN.
Source Expert list was added to SNRPN.
Mode of inheritance for gene SNRPN was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Phenotypes for gene: SNRPN were changed from to Prader-Willi syndrome; OMIM #176270
Intellectual disability syndromic and non-syndromic v0.1214 SNRPN Chirag Patel reviewed gene: SNRPN: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Prader-Willi syndrome, OMIM #176270; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Intellectual disability syndromic and non-syndromic v0.1214 SLC1A3 Zornitza Stark Deleted their comment
Intellectual disability syndromic and non-syndromic v0.1214 SLC1A3 Zornitza Stark commented on gene: SLC1A3: ID is not part of the phenotype.
Intellectual disability syndromic and non-syndromic v0.1213 SOST Chirag Patel Source Genetic Health Queensland was removed from SOST.
Source Expert list was added to SOST.
Mode of inheritance for gene SOST was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SOST were changed from to Craniodiaphyseal dysplasia, autosomal dominant, OMIM #122860; Sclerosteosis 1 , OMIM #269500; Van Buchem disease, OMIM #239100
Intellectual disability syndromic and non-syndromic v0.1212 SOST Chirag Patel reviewed gene: SOST: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Craniodiaphyseal dysplasia, autosomal dominant, OMIM #122860, Sclerosteosis 1 , OMIM #269500, Van Buchem disease, OMIM #239100; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1211 SP7 Chirag Patel reviewed gene: SP7: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Osteogenesis imperfecta, type XII, OMIM # 613849; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1208 SLC1A3 Zornitza Stark reviewed gene: SLC1A3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Episodic ataxia, type 6, MIM#612656; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1208 SPART Chirag Patel Source Genetic Health Queensland was removed from SPART.
Source Expert list was added to SPART.
Mode of inheritance for gene SPART was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SPART were changed from to Troyer syndrome; OMIM #275900
Publications for gene SPART were changed from PMID: 26003402; 28679690; 27112432; 20437587; 12134148; 18413476; 31314595; 28875386 to PMID: 26003402; 28679690; 27112432; 20437587; 12134148; 18413476; 31314595; 28875386
Intellectual disability syndromic and non-syndromic v0.1207 SPART Chirag Patel edited their review of gene: SPART: Changed publications: PMID: 26003402, 28679690, 27112432, 20437587, 12134148, 18413476, 31314595, 28875386
Intellectual disability syndromic and non-syndromic v0.1207 SPART Chirag Patel changed review comment from: > 5 families reported, with ID as part of phenotype.; to: Numerous families reported, with ID as part of phenotype.
Intellectual disability syndromic and non-syndromic v0.1207 SPART Chirag Patel reviewed gene: SPART: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 26003402, 28679690, 27112432, 20437587, 12134148, 18413476; Phenotypes: Troyer syndrome, OMIM # 275900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1206 SPEG Chirag Patel Source Genetic Health Queensland was removed from SPEG.
Source Expert list was added to SPEG.
Mode of inheritance for gene SPEG was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SPEG were changed from to Centronuclear myopathy 5; OMIM #615959
Intellectual disability syndromic and non-syndromic v0.1205 SPEG Chirag Patel reviewed gene: SPEG: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Centronuclear myopathy 5, OMIM #615959; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1203 SLC1A1 Zornitza Stark reviewed gene: SLC1A1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Dicarboxylic aminoaciduria, MIM#222730; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1203 SLC19A2 Zornitza Stark Phenotypes for gene: SLC19A2 were changed from to Thiamine-responsive megaloblastic anemia syndrome, MIM#249270
Intellectual disability syndromic and non-syndromic v0.1200 SLC19A2 Zornitza Stark reviewed gene: SLC19A2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Thiamine-responsive megaloblastic anemia syndrome, MIM#249270; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1197 SLC12A1 Zornitza Stark reviewed gene: SLC12A1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Bartter syndrome, type 1, MIM#601678; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1197 SH3TC2 Zornitza Stark Phenotypes for gene: SH3TC2 were changed from to Charcot-Marie-Tooth disease, type 4C, MIM#601596
Intellectual disability syndromic and non-syndromic v0.1194 SH3TC2 Zornitza Stark reviewed gene: SH3TC2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Charcot-Marie-Tooth disease, type 4C, MIM#601596; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1194 SPG7 Chirag Patel Source Genetic Health Queensland was removed from SPG7.
Source Expert list was added to SPG7.
Mode of inheritance for gene SPG7 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: SPG7 were changed from to Spastic paraplegia 7, autosomal recessive; OMIM #607259
Intellectual disability syndromic and non-syndromic v0.1193 SPG7 Chirag Patel reviewed gene: SPG7: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Spastic paraplegia 7, autosomal recessive, OMIM #607259; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1192 SPINK5 Chirag Patel Source Genetic Health Queensland was removed from SPINK5.
Source Expert list was added to SPINK5.
Mode of inheritance for gene SPINK5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SPINK5 were changed from to Netherton syndrome; OMIM #256500
Intellectual disability syndromic and non-syndromic v0.1191 SPINK5 Chirag Patel reviewed gene: SPINK5: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Netherton syndrome, OMIM #256500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1190 SPTLC1 Chirag Patel Source Genetic Health Queensland was removed from SPTLC1.
Source Expert list was added to SPTLC1.
Mode of inheritance for gene SPTLC1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SPTLC1 were changed from to Neuropathy, hereditary sensory and autonomic, type IA; OMIM #162400
Intellectual disability syndromic and non-syndromic v0.1189 SPTLC1 Chirag Patel reviewed gene: SPTLC1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Neuropathy, hereditary sensory and autonomic, type IA, OMIM #162400; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1189 ST3GAL5 Chirag Patel Source Genetic Health Queensland was removed from ST3GAL5.
Source Expert list was added to ST3GAL5.
Mode of inheritance for gene ST3GAL5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ST3GAL5 were changed from to Salt and pepper developmental regression syndrome; OMIM #609056
Publications for gene ST3GAL5 were changed from PubMed: 15502825; 22990144; 24026681; 27232954; 30185102; 24026681 to PubMed: 15502825; 22990144; 24026681; 27232954; 30185102; 24026681
Intellectual disability syndromic and non-syndromic v0.1188 ST3GAL5 Chirag Patel reviewed gene: ST3GAL5: Rating: GREEN; Mode of pathogenicity: None; Publications: PubMed: 15502825, 22990144, 24026681, 27232954, 30185102, 24026681; Phenotypes: Salt and pepper developmental regression syndrome, OMIM #609056; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1187 ST7 Chirag Patel reviewed gene: ST7: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Intellectual disability syndromic and non-syndromic v0.1186 STAC3 Chirag Patel Source Genetic Health Queensland was removed from STAC3.
Source Expert list was added to STAC3.
Mode of inheritance for gene STAC3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: STAC3 were changed from to Myopathy, congenital, Baily-Bloch; OMIM #255995
Intellectual disability syndromic and non-syndromic v0.1185 STAC3 Chirag Patel reviewed gene: STAC3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Myopathy, congenital, Baily-Bloch, OMIM #255995; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1184 STAT5B Chirag Patel Source Genetic Health Queensland was removed from STAT5B.
Source Expert list was added to STAT5B.
Mode of inheritance for gene STAT5B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: STAT5B were changed from to Growth hormone insensitivity with immunodeficiency; OMIM #245590
Intellectual disability syndromic and non-syndromic v0.1183 STAT5B Chirag Patel edited their review of gene: STAT5B: Changed phenotypes: Growth hormone insensitivity with immunodeficiency, OMIM #245590; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1183 STAT5B Chirag Patel reviewed gene: STAT5B: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Intellectual disability syndromic and non-syndromic v0.1182 STK3 Chirag Patel reviewed gene: STK3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Intellectual disability syndromic and non-syndromic v0.1181 STT3A Chirag Patel Source Genetic Health Queensland was removed from STT3A.
Source Expert list was added to STT3A.
Mode of inheritance for gene STT3A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: STT3A were changed from to ?Congenital disorder of glycosylation, type Iw; OMIM #615596
Publications for gene STT3A were changed from PMID: 23842455 to PMID: 23842455
Intellectual disability syndromic and non-syndromic v0.1180 STT3A Chirag Patel reviewed gene: STT3A: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 23842455; Phenotypes: ?Congenital disorder of glycosylation, type Iw, OMIM #615596; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1179 STT3B Chirag Patel Source Genetic Health Queensland was removed from STT3B.
Source Expert list was added to STT3B.
Mode of inheritance for gene STT3B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: STT3B were changed from to ?Congenital disorder of glycosylation, type Ix; OMIM #615597
Publications for gene STT3B were changed from PMID: 23842455 to PMID: 23842455
Intellectual disability syndromic and non-syndromic v0.1178 STT3B Chirag Patel reviewed gene: STT3B: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 23842455; Phenotypes: ?Congenital disorder of glycosylation, type Ix, OMIM #615597; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1178 SUCLA2 Chirag Patel Source Genetic Health Queensland was removed from SUCLA2.
Source Expert list was added to SUCLA2.
Mode of inheritance for gene SUCLA2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SUCLA2 were changed from to Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria); OMIM #612073
Publications for gene SUCLA2 were changed from PMID: 27913098; 15877282; 23759946; 17287286; 17301081 to PMID: 27913098; 15877282; 23759946; 17287286; 17301081
Intellectual disability syndromic and non-syndromic v0.1177 SUCLA2 Chirag Patel reviewed gene: SUCLA2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 27913098, 15877282, 23759946, 17287286, 17301081; Phenotypes: Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria), OMIM #612073; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1177 SUMF1 Chirag Patel Source Genetic Health Queensland was removed from SUMF1.
Source Expert list was added to SUMF1.
Mode of inheritance for gene SUMF1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SUMF1 were changed from to Multiple sulfatase deficiency; OMIM #272200
Intellectual disability syndromic and non-syndromic v0.1176 SUMF1 Chirag Patel reviewed gene: SUMF1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Multiple sulfatase deficiency, OMIM #272200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1170 SGCA Zornitza Stark reviewed gene: SGCA: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Muscular dystrophy, limb-girdle, autosomal recessive 3, MIM#608099; Mode of inheritance: None
Intellectual disability syndromic and non-syndromic v0.1167 SFXN4 Zornitza Stark reviewed gene: SFXN4: Rating: GREEN; Mode of pathogenicity: None; Publications: 31059822, 24119684; Phenotypes: Combined oxidative phosphorylation deficiency 18, MIM#615578; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1164 SF3B4 Zornitza Stark reviewed gene: SF3B4: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Acrofacial dysostosis 1, Nager type, MIM#154400; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1161 SEPSECS Zornitza Stark reviewed gene: SEPSECS: Rating: GREEN; Mode of pathogenicity: None; Publications: 12920088, 25044680; Phenotypes: Pontocerebellar hypoplasia type 2D, MIM#613811; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1161 SEMA3E Zornitza Stark reviewed gene: SEMA3E: Rating: AMBER; Mode of pathogenicity: None; Publications: 15235037, 31691538, 31464029; Phenotypes: CHARGE syndrome, MIM#214800; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1161 SELENON Zornitza Stark Phenotypes for gene: SELENON were changed from to Muscular dystrophy, rigid spine, 1, MIM# 602771; Myopathy, congenital, with fiber-type disproportion, MIM# 255310
Intellectual disability syndromic and non-syndromic v0.1160 SELENON Zornitza Stark Mode of inheritance for gene: SELENON was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1158 SELENON Zornitza Stark reviewed gene: SELENON: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Muscular dystrophy, rigid spine, 1, MIM# 602771, Myopathy, congenital, with fiber-type disproportion, MIM# 255310; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1158 SELENOI Zornitza Stark gene: SELENOI was added
gene: SELENOI was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Expert list
Mode of inheritance for gene: SELENOI was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SELENOI were set to 28052917
Phenotypes for gene: SELENOI were set to developmental delay; spasticity; periventricular white mater abnormalities; peripheral neuropathy; seizures; bifid uvula in some affected individuals; microcephaly
Review for gene: SELENOI was set to RED
Added comment: Single family only, four sibs, supportive biochemical evidence. Borderline amber/red gene, only mild ID described, seems to be more of a progressive neurometabolic condition based on limited evidence.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.1156 TACO1 Chirag Patel Source Genetic Health Queensland was removed from TACO1.
Source Expert list was added to TACO1.
Mode of inheritance for gene TACO1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TACO1 were changed from to Mitochondrial complex IV deficiency; OMIM #220110
Publications for gene TACO1 were changed from PubMed: 19503089; 20727754; 25044680 to PubMed: 19503089; 20727754; 25044680
Intellectual disability syndromic and non-syndromic v0.1155 TACO1 Chirag Patel reviewed gene: TACO1: Rating: AMBER; Mode of pathogenicity: None; Publications: PubMed: 19503089, 20727754, 25044680; Phenotypes: Mitochondrial complex IV deficiency, OMIM #220110; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1154 TAF8 Chirag Patel Source Genetic Health Queensland was removed from TAF8.
Source Expert list was added to TAF8.
Mode of inheritance for gene TAF8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Publications for gene TAF8 were changed from PMID: 29648665 to PMID: 29648665
Intellectual disability syndromic and non-syndromic v0.1153 TAF8 Chirag Patel reviewed gene: TAF8: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 29648665; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1153 TBC1D20 Chirag Patel Deleted their comment
Intellectual disability syndromic and non-syndromic v0.1153 TBC1D20 Chirag Patel edited their review of gene: TBC1D20: Added comment: Liegel et al. (2013) analyzed the candidate gene TBC1D20 and identified homozygous mutations in 7 patients diagnosed with Warburg Micro syndrome from 5 families of different ethnic origins. Evaluation of human fibroblasts deficient in TBC1D20 function identified aberrant lipid droplet formation.; Changed rating: GREEN
Intellectual disability syndromic and non-syndromic v0.1153 TBC1D20 Chirag Patel Source Genetic Health Queensland was removed from TBC1D20.
Source Expert list was added to TBC1D20.
Mode of inheritance for gene TBC1D20 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TBC1D20 were changed from to Warburg micro syndrome 4; OMIM #615663
Publications for gene TBC1D20 were changed from PubMed: 24239381 to PubMed: 24239381
Intellectual disability syndromic and non-syndromic v0.1152 TBC1D20 Chirag Patel reviewed gene: TBC1D20: Rating: RED; Mode of pathogenicity: None; Publications: PubMed: 24239381; Phenotypes: Warburg micro syndrome 4, OMIM #615663; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1151 TCTN3 Chirag Patel Source Genetic Health Queensland was removed from TCTN3.
Source Expert list was added to TCTN3.
Mode of inheritance for gene TCTN3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TCTN3 were changed from to Joubert syndrome 18, OMIM #614815; Orofaciodigital syndrome IV, OMIM #258860
Publications for gene TCTN3 were changed from PubMed: 22883145; 25118024; 26092869 to PubMed: 22883145; 25118024; 26092869
Intellectual disability syndromic and non-syndromic v0.1150 TCTN3 Chirag Patel reviewed gene: TCTN3: Rating: AMBER; Mode of pathogenicity: None; Publications: PubMed: 22883145, 25118024, 26092869; Phenotypes: Joubert syndrome 18, OMIM #614815, Orofaciodigital syndrome IV, OMIM #258860; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1150 Zornitza Stark removed gene:SDHD from the panel
Intellectual disability syndromic and non-syndromic v0.1148 TDGF1 Chirag Patel Source Genetic Health Queensland was removed from TDGF1.
Source Expert list was added to TDGF1.
Publications for gene TDGF1 were changed from PMID: 12073012 to PMID: 12073012
Intellectual disability syndromic and non-syndromic v0.1147 TDGF1 Chirag Patel edited their review of gene: TDGF1: Added comment: No OMIM number listed.

1 patient with TDGF1 mutation with midline anomalies of the forebrain. The mutant protein is inactive in a zebrafish rescue assay, indicating a role for TDGF1 in human midline and forebrain development.; Changed publications: PMID: 12073012; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1147 TDGF1 Chirag Patel Deleted their comment
Intellectual disability syndromic and non-syndromic v0.1147 SCN9A Zornitza Stark reviewed gene: SCN9A: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Epilepsy, generalized, with febrile seizures plus, type 7, MIM#613863, HSAN2D, autosomal recessive, MIM#243000; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1147 TDGF1 Chirag Patel reviewed gene: TDGF1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Intellectual disability syndromic and non-syndromic v0.1147 SCN1B Zornitza Stark Phenotypes for gene: SCN1B were changed from to Epileptic encephalopathy, early infantile, 52, MIM#617350
Intellectual disability syndromic and non-syndromic v0.1145 SCN1B Zornitza Stark reviewed gene: SCN1B: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Epileptic encephalopathy, early infantile, 52, MIM#617350; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1145 TDP2 Chirag Patel Source Genetic Health Queensland was removed from TDP2.
Source Expert list was added to TDP2.
Mode of inheritance for gene TDP2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TDP2 were changed from to Spinocerebellar ataxia, autosomal recessive 23; OMIM #616949
Publications for gene TDP2 were changed from PMID: 31410782; 30109272; 24658003 to PMID: 31410782; 30109272; 24658003
Intellectual disability syndromic and non-syndromic v0.1144 TDP2 Chirag Patel reviewed gene: TDP2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 31410782, 30109272, 24658003; Phenotypes: Spinocerebellar ataxia, autosomal recessive 23, OMIM #616949; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1144 TERT Chirag Patel Source Genetic Health Queensland was removed from TERT.
Source Expert list was added to TERT.
Mode of inheritance for gene TERT was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: TERT were changed from to Dyskeratosis congenita, autosomal dominant 2, OMIM #613989; Dyskeratosis congenita, autosomal recessive 4, OMIM #613989; Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1, OMIM #614742
Intellectual disability syndromic and non-syndromic v0.1143 TERT Chirag Patel reviewed gene: TERT: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Dyskeratosis congenita, autosomal dominant 2, OMIM #613989, Dyskeratosis congenita, autosomal recessive 4, OMIM #613989, Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1, OMIM #614742; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1143 TFAP2A Chirag Patel Deleted their comment
Intellectual disability syndromic and non-syndromic v0.1142 TFAP2A Chirag Patel Source Genetic Health Queensland was removed from TFAP2A.
Source Expert list was added to TFAP2A.
Mode of inheritance for gene TFAP2A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: TFAP2A were changed from to Branchiooculofacial syndrome; OMIM #113620
Intellectual disability syndromic and non-syndromic v0.1141 TFAP2A Chirag Patel reviewed gene: TFAP2A: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Branchiooculofacial syndrome, OMIM #113620; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1140 TFAP2B Chirag Patel Source Genetic Health Queensland was removed from TFAP2B.
Source Expert list was added to TFAP2B.
Mode of inheritance for gene TFAP2B was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: TFAP2B were changed from to Char syndrome, OMIM #169100; Patent ductus arteriosus 2, OMIM #617035
Intellectual disability syndromic and non-syndromic v0.1139 TFAP2B Chirag Patel reviewed gene: TFAP2B: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Char syndrome, OMIM #169100, Patent ductus arteriosus 2, OMIM #617035; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1138 TFG Chirag Patel Source Genetic Health Queensland was removed from TFG.
Source Expert list was added to TFG.
Mode of inheritance for gene TFG was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: TFG were changed from to ?Spastic paraplegia 57, autosomal recessive, OMIM #615658; Hereditary motor and sensory neuropathy, Okinawa type, OMIM #604484
Intellectual disability syndromic and non-syndromic v0.1137 TFG Chirag Patel reviewed gene: TFG: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ?Spastic paraplegia 57, autosomal recessive, OMIM #615658, Hereditary motor and sensory neuropathy, Okinawa type, OMIM #604484; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1136 TG Chirag Patel Source Genetic Health Queensland was removed from TG.
Source Expert list was added to TG.
Mode of inheritance for gene TG was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TG were changed from to Thyroid dyshormonogenesis 3; OMIM #274700
Intellectual disability syndromic and non-syndromic v0.1135 TG Chirag Patel reviewed gene: TG: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Thyroid dyshormonogenesis 3, OMIM #274700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1134 TGFBR1 Chirag Patel Source Genetic Health Queensland was removed from TGFBR1.
Source Expert list was added to TGFBR1.
Mode of inheritance for gene TGFBR1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: TGFBR1 were changed from to Loeys-Dietz syndrome 1; OMIM #609192
Intellectual disability syndromic and non-syndromic v0.1133 TGFBR1 Chirag Patel reviewed gene: TGFBR1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Loeys-Dietz syndrome 1, OMIM #609192; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1132 TGFBR2 Chirag Patel Source Genetic Health Queensland was removed from TGFBR2.
Source Expert list was added to TGFBR2.
Mode of inheritance for gene TGFBR2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: TGFBR2 were changed from to Loeys-Dietz syndrome 2; OMIM #610168
Intellectual disability syndromic and non-syndromic v0.1131 TGFBR2 Chirag Patel reviewed gene: TGFBR2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Loeys-Dietz syndrome 2, OMIM #610168; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1131 THAP1 Chirag Patel Classified gene: THAP1 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.1131 THAP1 Chirag Patel Gene: thap1 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1130 THAP1 Chirag Patel Source Genetic Health Queensland was removed from THAP1.
Source Expert list was added to THAP1.
Mode of inheritance for gene THAP1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: THAP1 were changed from to Dystonia 6, torsion; OMIM #602629
Intellectual disability syndromic and non-syndromic v0.1129 THAP1 Chirag Patel reviewed gene: THAP1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Dystonia 6, torsion, OMIM #602629; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1128 TIMM8A Chirag Patel Source Genetic Health Queensland was removed from TIMM8A.
Source Expert list was added to TIMM8A.
Mode of inheritance for gene TIMM8A was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: TIMM8A were changed from to Mohr-Tranebjaerg syndrome; OMIM #304700
Intellectual disability syndromic and non-syndromic v0.1127 TIMM8A Chirag Patel reviewed gene: TIMM8A: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Mohr-Tranebjaerg syndrome, OMIM #304700; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Intellectual disability syndromic and non-syndromic v0.1127 TKT Chirag Patel Source Genetic Health Queensland was removed from TKT.
Source Expert list was added to TKT.
Mode of inheritance for gene TKT was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TKT were changed from to Short stature, developmental delay, and congenital heart defects; OMIM #617044
Publications for gene TKT were changed from PubMed: 27259054 to PubMed: 27259054
Intellectual disability syndromic and non-syndromic v0.1126 TKT Chirag Patel reviewed gene: TKT: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 27259054; Phenotypes: Short stature, developmental delay, and congenital heart defects, OMIM #617044; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1125 SCN11A Zornitza Stark Phenotypes for gene: SCN11A were changed from to Neuropathy, hereditary sensory and autonomic, type VII, MIM#615548
Intellectual disability syndromic and non-syndromic v0.1122 SCN11A Zornitza Stark reviewed gene: SCN11A: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Neuropathy, hereditary sensory and autonomic, type VII, MIM#615548; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1122 SBF1 Zornitza Stark Phenotypes for gene: SBF1 were changed from to Charcot-Marie-Tooth disease, type 4B3, MIM# 615284
Intellectual disability syndromic and non-syndromic v0.1119 SBF1 Zornitza Stark reviewed gene: SBF1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24799518, 23749797, 30039846, 28902413; Phenotypes: Charcot-Marie-Tooth disease, type 4B3, MIM# 615284; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1115 SBDS Zornitza Stark reviewed gene: SBDS: Rating: RED; Mode of pathogenicity: None; Publications: 19906387; Phenotypes: Shwachman-Diamond syndrome, MIM#260400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1112 SARS2 Zornitza Stark reviewed gene: SARS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 21255763, 24034276; Phenotypes: Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis, MIM#613845; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1109 SALL1 Zornitza Stark reviewed gene: SALL1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Townes-Brocks syndrome 1, MIM#107480; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1106 RUBCN Zornitza Stark reviewed gene: RUBCN: Rating: RED; Mode of pathogenicity: None; Publications: 30237576, 20826435, 23728897; Phenotypes: Spinocerebellar ataxia, autosomal recessive 15, MIM#615705; Mode of inheritance: None
Intellectual disability syndromic and non-syndromic v0.1106 RTN4IP1 Zornitza Stark Phenotypes for gene: RTN4IP1 were changed from to Optic atrophy 10 with or without ataxia, mental retardation, and seizures, MIM#616732
Intellectual disability syndromic and non-syndromic v0.1103 RTN4IP1 Zornitza Stark reviewed gene: RTN4IP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 26593267; Phenotypes: Optic atrophy 10 with or without ataxia, mental retardation, and seizures, MIM#616732; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1103 RPS28 Zornitza Stark Phenotypes for gene: RPS28 were changed from to Diamond Blackfan anemia 15 with mandibulofacial dysostosis, MIM#606164
Intellectual disability syndromic and non-syndromic v0.1100 RPS28 Zornitza Stark reviewed gene: RPS28: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Diamond Blackfan anemia 15 with mandibulofacial dysostosis, MIM#606164; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1097 RPS19 Zornitza Stark reviewed gene: RPS19: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Diamond-Blackfan anemia 1, MIM#105650; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1094 RPL11 Zornitza Stark reviewed gene: RPL11: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Diamond-Blackfan anemia 7, MIM#612562; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1093 RORA Zornitza Stark gene: RORA was added
gene: RORA was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Expert list
Mode of inheritance for gene: RORA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RORA were set to 29656859
Phenotypes for gene: RORA were set to Intellectual developmental disorder with or without epilepsy or cerebellar ataxia, MIM#618060
Mode of pathogenicity for gene: RORA was set to Other
Review for gene: RORA was set to GREEN
Added comment: Eleven unrelated individuals with de novo variants in this gene; postulated that some variants exert dominant-negative effect resulting in a more severe phenotype than the LoF variants.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.1090 RNU4ATAC Zornitza Stark reviewed gene: RNU4ATAC: Rating: GREEN; Mode of pathogenicity: Other; Publications: ; Phenotypes: Microcephalic osteodysplastic primordial dwarfism, type I, MIM#210710, Roifman syndrome, MIM#616651; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1087 RMRP Zornitza Stark reviewed gene: RMRP: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Anauxetic dysplasia 1, MIM#607095; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1084 RIN2 Zornitza Stark reviewed gene: RIN2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Macrocephaly, alopecia, cutis laxa, and scoliosis, MIM#613075; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1083 RHOBTB2 Zornitza Stark gene: RHOBTB2 was added
gene: RHOBTB2 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
Mode of inheritance for gene: RHOBTB2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RHOBTB2 were set to 29768694; 29276004
Phenotypes for gene: RHOBTB2 were set to Epileptic encephalopathy, early infantile, 64, MIM#618004
Review for gene: RHOBTB2 was set to GREEN
Added comment: 13 individuals from unrelated families reported in the literature in 2018 with de novo variants in this gene and ID/EE.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1079 RFX6 Zornitza Stark reviewed gene: RFX6: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitchell-Riley syndrome, MIM#615710; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1079 RET Zornitza Stark Phenotypes for gene: RET were changed from to Central hypoventilation syndrome, congenital, MIM#209880; Medullary thyroid carcinoma, MIM#155240; Multiple endocrine neoplasia IIA, MIM#171400; Multiple endocrine neoplasia IIB, MIM#162300
Intellectual disability syndromic and non-syndromic v0.1076 RET Zornitza Stark reviewed gene: RET: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Central hypoventilation syndrome, congenital, MIM#209880, Medullary thyroid carcinoma, MIM#155240, Multiple endocrine neoplasia IIA, MIM#171400, Multiple endocrine neoplasia IIB, MIM#162300; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1076 RECQL4 Zornitza Stark Phenotypes for gene: RECQL4 were changed from to Baller-Gerold syndrome, MIM#218600; RAPADILINO syndrome, MIM#266280; Rothmund-Thomson syndrome, type 2,MIM#268400
Intellectual disability syndromic and non-syndromic v0.1073 RECQL4 Zornitza Stark reviewed gene: RECQL4: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Baller-Gerold syndrome, MIM#218600, RAPADILINO syndrome, MIM#266280, Rothmund-Thomson syndrome, type 2,MIM#268400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1070 RBPJ Zornitza Stark reviewed gene: RBPJ: Rating: RED; Mode of pathogenicity: None; Publications: 22883147, 29924900; Phenotypes: Adams-Oliver syndrome 3, MIM#614814; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1070 RBM8A Zornitza Stark Phenotypes for gene: RBM8A were changed from to Thrombocytopenia-absent radius syndrome, MIM#274000
Intellectual disability syndromic and non-syndromic v0.1067 RBM8A Zornitza Stark reviewed gene: RBM8A: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Thrombocytopenia-absent radius syndrome, MIM#274000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1066 TMEM231 Chirag Patel Source Genetic Health Queensland was removed from TMEM231.
Source Expert list was added to TMEM231.
Mode of inheritance for gene TMEM231 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TMEM231 were changed from to Joubert syndrome 20, OMIM #614970; Meckel syndrome 11, OMIM #615397
Publications for gene TMEM231 were changed from PMID: 23012439 to PMID: 23012439
Intellectual disability syndromic and non-syndromic v0.1065 TMEM231 Chirag Patel reviewed gene: TMEM231: Rating: AMBER; Mode of pathogenicity: None; Publications: PubMed: 23012439; Phenotypes: Joubert syndrome 20, OMIM #614970, Meckel syndrome 11, OMIM #615397; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1065 TP63 Chirag Patel Source Genetic Health Queensland was removed from TP63.
Source Expert list was added to TP63.
Mode of inheritance for gene TP63 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: TP63 were changed from to ADULT syndrome, OMIM #103285; Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3, OMIM #604292; Hay-Wells syndrome, OMIM #106260; Limb-mammary syndrome, OMIM #603543; Orofacial cleft 8, OMIM #618149; Rapp-Hodgkin syndrome, OMIM #129400; Split-hand/foot malformation 4, OMIM #605289
Intellectual disability syndromic and non-syndromic v0.1063 TP63 Chirag Patel reviewed gene: TP63: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ADULT syndrome, OMIM #103285, Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3, OMIM #604292, Hay-Wells syndrome, OMIM #106260, Limb-mammary syndrome, OMIM #603543, Orofacial cleft 8, OMIM #618149, Rapp-Hodgkin syndrome, OMIM #129400, Split-hand/foot malformation 4, OMIM #605289; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1063 TPP1 Chirag Patel Source Genetic Health Queensland was removed from TPP1.
Source Expert list was added to TPP1.
Mode of inheritance for gene TPP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TPP1 were changed from to Ceroid lipofuscinosis, neuronal, 2, OMIM #204500; Spinocerebellar ataxia, autosomal recessive 7, OMIM #609270
Intellectual disability syndromic and non-syndromic v0.1062 TPP1 Chirag Patel reviewed gene: TPP1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Ceroid lipofuscinosis, neuronal, 2, OMIM #204500, Spinocerebellar ataxia, autosomal recessive 7, OMIM #609270; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1061 TRAF7 Chirag Patel reviewed gene: TRAF7: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 29961569; Phenotypes: Cardiac, facial, and digital anomalies with developmental delay, OMIM #618164; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1061 TRAF7 Chirag Patel gene: TRAF7 was added
gene: TRAF7 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Expert list
Mode of inheritance for gene: TRAF7 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TRAF7 were set to PMID: 29961569
Phenotypes for gene: TRAF7 were set to Cardiac, facial, and digital anomalies with developmental delay; OMIM #618164
Intellectual disability syndromic and non-syndromic v0.1060 TRAPPC11 Chirag Patel Source Genetic Health Queensland was removed from TRAPPC11.
Source Expert list was added to TRAPPC11.
Mode of inheritance for gene TRAPPC11 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TRAPPC11 were changed from to Muscular dystrophy, limb-girdle, autosomal recessive 18; OMIM #615356
Publications for gene TRAPPC11 were changed from PMID: 23830518; 27707803 to PMID: 23830518; 27707803
Intellectual disability syndromic and non-syndromic v0.1059 TRAPPC11 Chirag Patel reviewed gene: TRAPPC11: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 23830518, 27707803; Phenotypes: Muscular dystrophy, limb-girdle, autosomal recessive 18, OMIM #615356; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1058 TRAPPC6A Chirag Patel reviewed gene: TRAPPC6A: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Intellectual disability syndromic and non-syndromic v0.1058 RBM28 Zornitza Stark Phenotypes for gene: RBM28 were changed from to Alopecia, neurologic defects, and endocrinopathy syndrome, MIM#612079
Intellectual disability syndromic and non-syndromic v0.1054 RBM28 Zornitza Stark reviewed gene: RBM28: Rating: RED; Mode of pathogenicity: None; Publications: 18439547; Phenotypes: Alopecia, neurologic defects, and endocrinopathy syndrome, MIM#612079; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1054 RAPSN Zornitza Stark Phenotypes for gene: RAPSN were changed from to Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency, MIM#616326
Intellectual disability syndromic and non-syndromic v0.1051 RAPSN Zornitza Stark reviewed gene: RAPSN: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency, MIM#616326; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1051 RANBP2 Zornitza Stark Phenotypes for gene: RANBP2 were changed from to Encephalopathy, acute, infection-induced, 3, susceptibility to, MIM# 608033
Intellectual disability syndromic and non-syndromic v0.1048 RANBP2 Zornitza Stark reviewed gene: RANBP2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Encephalopathy, acute, infection-induced, 3, susceptibility to, MIM# 608033; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1048 RAC3 Zornitza Stark Phenotypes for gene: RAC3 were changed from to Neurodevelopmental disorder with structural brain anomalies and dysmorphic facies, MIM#618577
Intellectual disability syndromic and non-syndromic v0.1045 RAC3 Zornitza Stark reviewed gene: RAC3: Rating: ; Mode of pathogenicity: None; Publications: 30293988, 29276006; Phenotypes: Neurodevelopmental disorder with structural brain anomalies and dysmorphic facies, MIM#618577; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1041 RAB40AL Zornitza Stark reviewed gene: RAB40AL: Rating: RED; Mode of pathogenicity: None; Publications: 25044830; Phenotypes: MENTAL RETARDATION, X-LINKED, SYNDROMIC, MARTIN-PROBST TYPE; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Intellectual disability syndromic and non-syndromic v0.1038 RAB27A Zornitza Stark reviewed gene: RAB27A: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Griscelli syndrome, type 2, MIM#607624; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1035 PYGL Zornitza Stark reviewed gene: PYGL: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Glycogen storage disease VI, MIM#232700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1031 PUM1 Zornitza Stark reviewed gene: PUM1: Rating: AMBER; Mode of pathogenicity: None; Publications: 29474920, 25768905; Phenotypes: Spinocerebellar ataxia 47, MIM#617931; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1029 PSAP Zornitza Stark reviewed gene: PSAP: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Metachromatic leukodystrophy due to SAP-b deficiency, MIM#249900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1029 PRX Zornitza Stark Phenotypes for gene: PRX were changed from to Charcot-Marie-Tooth disease, type 4F, MIM#614895
Intellectual disability syndromic and non-syndromic v0.1026 PRX Zornitza Stark reviewed gene: PRX: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Charcot-Marie-Tooth disease, type 4F, MIM#614895; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1026 PRRX1 Zornitza Stark Phenotypes for gene: PRRX1 were changed from to Agnathia-otocephaly complex, MIM#202650
Intellectual disability syndromic and non-syndromic v0.1024 PRRX1 Zornitza Stark reviewed gene: PRRX1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Agnathia-otocephaly complex, MIM#202650; Mode of inheritance: None
Intellectual disability syndromic and non-syndromic v0.1022 PRR12 Zornitza Stark gene: PRR12 was added
gene: PRR12 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
Mode of inheritance for gene: PRR12 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PRR12 were set to 29556724
Review for gene: PRR12 was set to GREEN
Added comment: Three unrelated individuals reported with de novo LoF variants; in addition, another individual with translocation disrupting gene.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1018 PRKRA Zornitza Stark reviewed gene: PRKRA: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Dystonia 16, MIM#612067; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1015 PRKN Zornitza Stark reviewed gene: PRKN: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Parkinson disease, juvenile, type 2, MIM#600116; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1015 PRKDC Zornitza Stark Phenotypes for gene: PRKDC were changed from to Immunodeficiency 26, with or without neurologic abnormalities, MIM#615966
Intellectual disability syndromic and non-syndromic v0.1011 PRKDC Zornitza Stark reviewed gene: PRKDC: Rating: RED; Mode of pathogenicity: None; Publications: 19075392, 23722905; Phenotypes: Immunodeficiency 26, with or without neurologic abnormalities, MIM#615966; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1011 PRKAR1A Zornitza Stark Phenotypes for gene: PRKAR1A were changed from to Acrodysostosis 1, with or without hormone resistance, MIM#101800
Intellectual disability syndromic and non-syndromic v0.1009 PRKAR1A Zornitza Stark reviewed gene: PRKAR1A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Acrodysostosis 1, with or without hormone resistance, MIM#101800; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1007 PRICKLE1 Zornitza Stark reviewed gene: PRICKLE1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Epilepsy, progressive myoclonic 1B, MIM#612437; Mode of inheritance: None
Intellectual disability syndromic and non-syndromic v0.1004 PRF1 Zornitza Stark reviewed gene: PRF1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Hemophagocytic lymphohistiocytosis, familial, 2, MIM#603553; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1004 PREPL Zornitza Stark Phenotypes for gene: PREPL were changed from to Myasthenic syndrome, congenital, 22, MIM#616224
Intellectual disability syndromic and non-syndromic v0.1000 PREPL Zornitza Stark reviewed gene: PREPL: Rating: RED; Mode of pathogenicity: None; Publications: 28726805; Phenotypes: Myasthenic syndrome, congenital, 22, MIM#616224; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.996 PRDM8 Zornitza Stark reviewed gene: PRDM8: Rating: RED; Mode of pathogenicity: None; Publications: 22961547; Phenotypes: Epilepsy, progressive myoclonic, 10, MIM#616640; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.995 PPP1R21 Zornitza Stark gene: PPP1R21 was added
gene: PPP1R21 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
Mode of inheritance for gene: PPP1R21 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PPP1R21 were set to 30520571
Phenotypes for gene: PPP1R21 were set to Hypotonia; intellectual disability; white matter abnormalities
Review for gene: PPP1R21 was set to GREEN
Added comment: At least four unrelated families reported with bi-allelic variants in this gene.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.991 PPOX Zornitza Stark reviewed gene: PPOX: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Porphyria variegata, MIM#176200; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.987 PPM1K Zornitza Stark reviewed gene: PPM1K: Rating: RED; Mode of pathogenicity: None; Publications: 23086801; Phenotypes: Maple syrup urine disease, mild variant, MIM#615135; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.984 POP1 Zornitza Stark reviewed gene: POP1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Anauxetic dysplasia 2, MIM#617396; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.983 PON3 Zornitza Stark reviewed gene: PON3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Intellectual disability syndromic and non-syndromic v0.983 POMK Zornitza Stark commented on gene: POMK: ID is part of the phenotype.
Intellectual disability syndromic and non-syndromic v0.983 POMK Zornitza Stark Phenotypes for gene: POMK were changed from to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12, MIM#615249
Intellectual disability syndromic and non-syndromic v0.981 POMK Zornitza Stark reviewed gene: POMK: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12, MIM#615249; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.978 POC1A Zornitza Stark reviewed gene: POC1A: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis, MIM#614813; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.976 PNPT1 Zornitza Stark reviewed gene: PNPT1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Combined oxidative phosphorylation deficiency 13, MIM#614932; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.974 PNP Zornitza Stark reviewed gene: PNP: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Immunodeficiency due to purine nucleoside phosphorylase deficiency, MIM#613179; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.973 PLOD3 Zornitza Stark Added comment: Comment when marking as ready: Two other reports identified, one of connective tissue/EB phenotype and the other in a large study reporting multiple emerging genes in consanguineous families
Intellectual disability syndromic and non-syndromic v0.969 PLOD3 Zornitza Stark reviewed gene: PLOD3: Rating: AMBER; Mode of pathogenicity: None; Publications: 18834968, 31129566; Phenotypes: Lysyl hydroxylase 3 deficiency, MIM#612394; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.968 PIP5K1B Zornitza Stark reviewed gene: PIP5K1B: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Intellectual disability syndromic and non-syndromic v0.967 PINK1 Zornitza Stark Mode of inheritance for gene: PINK1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.965 PINK1 Zornitza Stark reviewed gene: PINK1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Parkinson disease 6, early onset, MIM#605909; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.961 PIK3R1 Zornitza Stark reviewed gene: PIK3R1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: SHORT syndrome, MIM#269880; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.957 PHKG2 Zornitza Stark reviewed gene: PHKG2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Glycogen storage disease IXc, MIM#613027; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.956 PHKA2 Zornitza Stark Mode of inheritance for gene: PHKA2 was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Intellectual disability syndromic and non-syndromic v0.954 PHKA2 Zornitza Stark reviewed gene: PHKA2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Glycogen storage disease, type IXa1, MIM#306000; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Intellectual disability syndromic and non-syndromic v0.948 PHC1 Zornitza Stark reviewed gene: PHC1: Rating: AMBER; Mode of pathogenicity: None; Publications: 23418308; Phenotypes: Microcephaly 11, primary, autosomal recessive, MIM#615414; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.945 PDP1 Zornitza Stark reviewed gene: PDP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 19184109, 15855260, 31392110; Phenotypes: Pyruvate dehydrogenase phosphatase deficiency, MIM#608782; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.943 PDHB Zornitza Stark reviewed gene: PDHB: Rating: GREEN; Mode of pathogenicity: None; Publications: 15138885, 26014431; Phenotypes: Pyruvate dehydrogenase E1-beta deficiency, MIM#614111; Mode of inheritance: None
Intellectual disability syndromic and non-syndromic v0.943 PDGFB Zornitza Stark Phenotypes for gene: PDGFB were changed from to Basal ganglia calcification, idiopathic, 5, MIM#615483
Intellectual disability syndromic and non-syndromic v0.940 PDGFB Zornitza Stark reviewed gene: PDGFB: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Basal ganglia calcification, idiopathic, 5, MIM#615483; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.937 PDE6D Zornitza Stark reviewed gene: PDE6D: Rating: GREEN; Mode of pathogenicity: None; Publications: 24166846, 30423442; Phenotypes: Joubert syndrome 22, MIM#615665; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.934 PDE11A Zornitza Stark reviewed gene: PDE11A: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Pigmented nodular adrenocortical disease, primary, 2, MIM#610475; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.933 OXR1 Zornitza Stark gene: OXR1 was added
gene: OXR1 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
Mode of inheritance for gene: OXR1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: OXR1 were set to 31785787
Phenotypes for gene: OXR1 were set to Intellectual disability; seizures; cerebellar atrophy
Review for gene: OXR1 was set to GREEN
Added comment: Five individuals from three families.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.931 TMX2 Zornitza Stark gene: TMX2 was added
gene: TMX2 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
Mode of inheritance for gene: TMX2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TMX2 were set to 31735293; 31586943
Phenotypes for gene: TMX2 were set to Microcephaly; ID; brain malformations
Review for gene: TMX2 was set to GREEN
Added comment: 14 individuals from 10 unrelated families with bi-allelic variants in this gene (31735293) and another four families with recurrent variant (31586943).
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.930 PDE10A Zornitza Stark Added comment: Comment when marking as ready: Note that allelic disorder, Striatal degeneration, autosomal dominant, MIM#616922, is caused by heterozygous variants and ID is not part of the phenotype.
Intellectual disability syndromic and non-syndromic v0.927 PDE10A Zornitza Stark reviewed gene: PDE10A: Rating: GREEN; Mode of pathogenicity: None; Publications: 27058446; Phenotypes: Dyskinesia, limb and orofacial, infantile-onset, MIM#616921; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.926 PCYT2 Zornitza Stark gene: PCYT2 was added
gene: PCYT2 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Expert Review
Mode of inheritance for gene: PCYT2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PCYT2 were set to 31637422
Phenotypes for gene: PCYT2 were set to Global developmental delay with regression; spastic para- or tetra paresis; epilepsy; progressive cerebral and cerebellar atrophy
Review for gene: PCYT2 was set to GREEN
Added comment: Five unrelated individuals. Variants are hypomorphic.
Sources: Expert Review
Intellectual disability syndromic and non-syndromic v0.919 PCDH9 Zornitza Stark reviewed gene: PCDH9: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Intellectual disability syndromic and non-syndromic v0.916 PCDH15 Zornitza Stark reviewed gene: PCDH15: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Deafness, autosomal recessive 23, MIM#609533; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.913 PCDH12 Zornitza Stark reviewed gene: PCDH12: Rating: GREEN; Mode of pathogenicity: None; Publications: 27164683, 30178464; Phenotypes: Diencephalic-mesencephalic junction dysplasia syndrome 1, MIM#251280; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.910 PCBD1 Zornitza Stark reviewed gene: PCBD1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Hyperphenylalaninemia, BH4-deficient, D, MIM#264070; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.907 PAX3 Zornitza Stark reviewed gene: PAX3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Craniofacial-deafness-hand syndrome, MIM#122880, Waardenburg syndrome, type 1, MIM#193500, Waardenburg syndrome, type 3, MIM#148820; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.904 PAX2 Zornitza Stark reviewed gene: PAX2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Papillorenal syndrome, MIM#120330; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.904 PANK2 Zornitza Stark Phenotypes for gene: PANK2 were changed from to Neurodegeneration with brain iron accumulation 1, MIM#234200
Intellectual disability syndromic and non-syndromic v0.901 PANK2 Zornitza Stark reviewed gene: PANK2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodegeneration with brain iron accumulation 1, MIM#234200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.898 PAM16 Zornitza Stark reviewed gene: PAM16: Rating: GREEN; Mode of pathogenicity: None; Publications: 24786642, 27354339; Phenotypes: Spondylometaphyseal dysplasia, Megarbane-Dagher-Melike type, MIM#613320; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.898 PACS2 Zornitza Stark Phenotypes for gene: PACS2 were changed from to Epileptic encephalopathy, early infantile, 66, MIM#618067
Intellectual disability syndromic and non-syndromic v0.895 PACS2 Zornitza Stark reviewed gene: PACS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 29656858; Phenotypes: Epileptic encephalopathy, early infantile, 66, MIM#618067; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.893 NUP62 Zornitza Stark Deleted their comment
Intellectual disability syndromic and non-syndromic v0.889 NUP62 Zornitza Stark reviewed gene: NUP62: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Striatonigral degeneration, infantile, MIM#271930; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.885 NRXN2 Zornitza Stark reviewed gene: NRXN2: Rating: RED; Mode of pathogenicity: None; Publications: 21424692, 30709877, 25745399; Phenotypes: Autism; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.881 NR4A2 Zornitza Stark reviewed gene: NR4A2: Rating: AMBER; Mode of pathogenicity: None; Publications: 31428396, 30504930, 29770430; Phenotypes: Intellectual disability, rolandic epilepsy, autism; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.877 NOTCH3 Zornitza Stark Phenotypes for gene: NOTCH3 were changed from to Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1, MIM#125310
Intellectual disability syndromic and non-syndromic v0.874 NOTCH3 Zornitza Stark reviewed gene: NOTCH3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1, MIM#125310; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.870 NOP10 Zornitza Stark reviewed gene: NOP10: Rating: RED; Mode of pathogenicity: None; Publications: 17507419; Phenotypes: Dyskeratosis congenita, autosomal recessive 1, MIM#224230; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.870 NIN Zornitza Stark reviewed gene: NIN: Rating: RED; Mode of pathogenicity: None; Publications: 22933543; Phenotypes: Seckel syndrome 7, MIM#614851; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.867 NHLRC1 Zornitza Stark reviewed gene: NHLRC1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Epilepsy, progressive myoclonic 2B (Lafora), MIM#254780; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.866 NFIB Zornitza Stark gene: NFIB was added
gene: NFIB was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert list
Mode of inheritance for gene: NFIB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: NFIB were set to 30388402
Phenotypes for gene: NFIB were set to Macrocephaly, acquired, with impaired intellectual development, MIM#618286
Review for gene: NFIB was set to GREEN
Added comment: 18 individuals reported, of whom 11 had deletions of this gene and the rest had SNVs.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.864 NEGR1 Zornitza Stark reviewed gene: NEGR1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Intellectual disability syndromic and non-syndromic v0.862 NEDD4L Zornitza Stark reviewed gene: NEDD4L: Rating: GREEN; Mode of pathogenicity: None; Publications: 27694961; Phenotypes: Periventricular nodular heterotopia 7, MIM#617201; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.862 NECAP1 Zornitza Stark Phenotypes for gene: NECAP1 were changed from to Epileptic encephalopathy, early infantile, 21, MIM#615833
Intellectual disability syndromic and non-syndromic v0.859 NECAP1 Zornitza Stark Added comment: Comment on list classification: Three families, but two of these have the same founder variant; no functional data.
Intellectual disability syndromic and non-syndromic v0.858 NECAP1 Zornitza Stark reviewed gene: NECAP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24399846, 30626896, 30525121; Phenotypes: Epileptic encephalopathy, early infantile, 21, MIM#615833; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.855 NDUFV2 Zornitza Stark reviewed gene: NDUFV2: Rating: GREEN; Mode of pathogenicity: None; Publications: 12754703, 26008862, 29554876; Phenotypes: Mitochondrial complex I deficiency, nuclear type 7, MIM#618229; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.852 NDUFS6 Zornitza Stark reviewed gene: NDUFS6: Rating: GREEN; Mode of pathogenicity: None; Publications: 15372108, 19259137, 30948790, 22474353; Phenotypes: Mitochondrial complex I deficiency, nuclear type 9, MIM#618232; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.849 NDUFS3 Zornitza Stark reviewed gene: NDUFS3: Rating: GREEN; Mode of pathogenicity: None; Publications: 14729820, 22499348, 30140060; Phenotypes: Mitochondrial complex I deficiency, nuclear type 8, MIM#618230; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.846 NDUFS2 Zornitza Stark reviewed gene: NDUFS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 11220739, 31411514, 29272804; Phenotypes: Mitochondrial complex I deficiency, nuclear type 6, MIM#618228; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.843 NDUFB9 Zornitza Stark reviewed gene: NDUFB9: Rating: AMBER; Mode of pathogenicity: None; Publications: 22200994; Phenotypes: Mitochondrial complex I deficiency, nuclear type 24, MIM#618245; Mode of inheritance: None
Intellectual disability syndromic and non-syndromic v0.840 NDUFB3 Zornitza Stark reviewed gene: NDUFB3: Rating: GREEN; Mode of pathogenicity: None; Publications: 22277967, 22499348, 27091925; Phenotypes: Mitochondrial complex I deficiency, nuclear type 25, MIM#618246; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.837 NDUFAF6 Zornitza Stark reviewed gene: NDUFAF6: Rating: GREEN; Mode of pathogenicity: None; Publications: 26741492, 18614015; Phenotypes: Mitochondrial complex I deficiency, nuclear type 17, MIM#618239; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.834 NDUFAF4 Zornitza Stark reviewed gene: NDUFAF4: Rating: GREEN; Mode of pathogenicity: None; Publications: 18179882, 28853723; Phenotypes: Mitochondrial complex I deficiency, nuclear type 15, MIM#618237; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.831 NDUFAF3 Zornitza Stark reviewed gene: NDUFAF3: Rating: GREEN; Mode of pathogenicity: None; Publications: 19463981; Phenotypes: Mitochondrial complex I deficiency, nuclear type 18, MIM#618240; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.828 NDUFAF2 Zornitza Stark reviewed gene: NDUFAF2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial complex I deficiency, nuclear type 10, MIM#618233; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.828 NDUFAF1 Zornitza Stark reviewed gene: NDUFAF1: Rating: GREEN; Mode of pathogenicity: None; Publications: 17557076, 21931170, 24963768; Phenotypes: Mitochondrial complex I deficiency, nuclear type 11, MIM#618234; Mode of inheritance: None
Intellectual disability syndromic and non-syndromic v0.825 NDUFA9 Zornitza Stark reviewed gene: NDUFA9: Rating: GREEN; Mode of pathogenicity: None; Publications: 28671271, 22114105; Phenotypes: Mitochondrial complex I deficiency, nuclear type 26, MIM#618247; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.825 NDUFA2 Zornitza Stark reviewed gene: NDUFA2: Rating: GREEN; Mode of pathogenicity: None; Publications: 18513682, 28857146; Phenotypes: Mitochondrial complex I deficiency, nuclear type 13, MIM#618235; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.821 NDUFA11 Zornitza Stark reviewed gene: NDUFA11: Rating: AMBER; Mode of pathogenicity: None; Publications: 18306244, 31074871; Phenotypes: Mitochondrial complex I deficiency, nuclear type 14, MIM#618236; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.818 NDUFA10 Zornitza Stark reviewed gene: NDUFA10: Rating: GREEN; Mode of pathogenicity: None; Publications: 21150889, 26741492; Phenotypes: Mitochondrial complex I deficiency, nuclear type 22, MIM#618243; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.817 NDN Zornitza Stark reviewed gene: NDN: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Intellectual disability syndromic and non-syndromic v0.817 NAGS Zornitza Stark Phenotypes for gene: NAGS were changed from to N-acetylglutamate synthase deficiency, MIM#237310
Intellectual disability syndromic and non-syndromic v0.814 NAGS Zornitza Stark reviewed gene: NAGS: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: N-acetylglutamate synthase deficiency, MIM#237310; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.814 CLCN2 Zornitza Stark Phenotypes for gene: CLCN2 were changed from to Leukoencephalopathy with ataxia, MIM#615651
Intellectual disability syndromic and non-syndromic v0.799 AGO3 Zornitza Stark gene: AGO3 was added
gene: AGO3 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert list
Mode of inheritance for gene: AGO3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: AGO3 were set to 25271087
Phenotypes for gene: AGO3 were set to Intellectual disability
Review for gene: AGO3 was set to RED
Added comment: Five children with heterozygous deletions of AGO3 reported; however deletions also encompass AGO1 and therefore gene-disease association cannot be firmly established until SNVs reported/functional data becomes available.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.798 ADRA2B Zornitza Stark gene: ADRA2B was added
gene: ADRA2B was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert list
Mode of inheritance for gene: ADRA2B was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: ADRA2B were set to 24114805; 21937992
Phenotypes for gene: ADRA2B were set to Cortical myoclonus and epilepsy; Intellectual disability
Review for gene: ADRA2B was set to RED
Added comment: Two families reported but same mutation, ?founder effect. Most affected individuals had normal intellect.
Another paper linking to AR intellectual disability but as part of manuscript reporting multiple novel candidates.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.796 CFHR3 Zornitza Stark Mode of inheritance for gene: CFHR3 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.793 CFHR1 Zornitza Stark Mode of inheritance for gene: CFHR1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.790 CFH Zornitza Stark Mode of inheritance for gene: CFH was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.761 CCDC78 Zornitza Stark Phenotypes for gene: CCDC78 were changed from to Centronuclear myopathy 4, MIM#614807
Intellectual disability syndromic and non-syndromic v0.757 CACNA1G Zornitza Stark Phenotypes for gene: CACNA1G were changed from to Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits, MIM#618087
Intellectual disability syndromic and non-syndromic v0.754 CA8 Zornitza Stark Phenotypes for gene: CA8 were changed from to Cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3, MIM#613227
Intellectual disability syndromic and non-syndromic v0.751 CA2 Zornitza Stark Phenotypes for gene: CA2 were changed from to Osteopetrosis, autosomal recessive 3, with renal tubular acidosis, MIM#259730
Intellectual disability syndromic and non-syndromic v0.748 C19orf12 Zornitza Stark Phenotypes for gene: C19orf12 were changed from to Neurodegeneration with brain iron accumulation 4, MIM#614298
Intellectual disability syndromic and non-syndromic v0.747 C19orf12 Zornitza Stark Mode of inheritance for gene: C19orf12 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.743 BRAT1 Zornitza Stark Phenotypes for gene: BRAT1 were changed from to Neurodevelopmental disorder with cerebellar atrophy and with or without seizures, MIM#618056
Intellectual disability syndromic and non-syndromic v0.719 B3GAT3 Zornitza Stark Phenotypes for gene: B3GAT3 were changed from to Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects, MIM#245600
Intellectual disability syndromic and non-syndromic v0.716 B3GALT6 Zornitza Stark Phenotypes for gene: B3GALT6 were changed from to Ehlers-Danlos syndrome, spondylodysplastic type, 2, MIM#615349; Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures, MIM#271640
Intellectual disability syndromic and non-syndromic v0.713 AHCY Zornitza Stark Phenotypes for gene: AHCY were changed from to Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase, MIM#613752
Intellectual disability syndromic and non-syndromic v0.711 ASNS Zornitza Stark Phenotypes for gene: ASNS were changed from to Asparagine synthetase deficiency, MIM#615574
Intellectual disability syndromic and non-syndromic v0.701 ALG14 Zornitza Stark Phenotypes for gene: ALG14 were changed from to Myasthenic syndrome, congenital, 15, without tubular aggregates, MIM#616227; Intellectual disability
Intellectual disability syndromic and non-syndromic v0.651 APTX Zornitza Stark Phenotypes for gene: APTX were changed from to Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia, MIM#208920
Intellectual disability syndromic and non-syndromic v0.617 ADCY5 Zornitza Stark Phenotypes for gene: ADCY5 were changed from to Dyskinesia, familial, with facial myokymia, MIM#606703
Intellectual disability syndromic and non-syndromic v0.606 LZTR1 Zornitza Stark gene: LZTR1 was added
gene: LZTR1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert list
Mode of inheritance for gene: LZTR1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: LZTR1 were set to Noonan syndrome 10, MIM#616564; Noonan syndrome 2, MIM#605275
Review for gene: LZTR1 was set to GREEN
Added comment: Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.603 LAMB2 Zornitza Stark reviewed gene: LAMB2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Pierson syndrome, MIM#609049; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.602 LZTFL1 Zornitza Stark reviewed gene: LZTFL1: Rating: GREEN; Mode of pathogenicity: None; Publications: 22510444, 23692385, 27312011; Phenotypes: Bardet-Biedl syndrome 17, MIM#615994; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.600 LYST Zornitza Stark reviewed gene: LYST: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Chediak-Higashi syndrome, MIM#214500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.598 LYRM7 Zornitza Stark reviewed gene: LYRM7: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial complex III deficiency, nuclear type 8, MIM#615838; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.595 LMNB1 Zornitza Stark reviewed gene: LMNB1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Leukodystrophy, adult-onset, autosomal dominant, MIM#169500; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.594 LMNA Zornitza Stark reviewed gene: LMNA: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Intellectual disability syndromic and non-syndromic v0.591 LIPT1 Zornitza Stark reviewed gene: LIPT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24341803, 24256811, 29681092; Phenotypes: Lipoyltransferase 1 deficiency, MIM#616299; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.585 LIAS Zornitza Stark reviewed gene: LIAS: Rating: GREEN; Mode of pathogenicity: None; Publications: 24334290, 22152680; Phenotypes: Hyperglycinemia, lactic acidosis, and seizures, MIM#614462; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.585 LGI4 Zornitza Stark Phenotypes for gene: LGI4 were changed from to Arthrogryposis multiplex congenita, neurogenic, with myelin defect, MIM#617468
Intellectual disability syndromic and non-syndromic v0.582 LGI4 Zornitza Stark reviewed gene: LGI4: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Arthrogryposis multiplex congenita, neurogenic, with myelin defect, MIM#617468; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.581 LBR Zornitza Stark Mode of inheritance for gene: LBR was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.579 LBR Zornitza Stark reviewed gene: LBR: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Greenberg skeletal dysplasia, MIM#215140, 3 Pelger-Huet anomaly, MIM#169400; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.579 KYNU Zornitza Stark edited their review of gene: KYNU: Changed phenotypes: Hydroxykynureninuria, MIM#236800, Vertebral, cardiac, renal, and limb defects syndrome 2, MIM#617661
Intellectual disability syndromic and non-syndromic v0.576 KYNU Zornitza Stark reviewed gene: KYNU: Rating: RED; Mode of pathogenicity: None; Publications: 28792876, 17334708; Phenotypes: Hydroxykynureninuria, MIM#236800; Mode of inheritance: None
Intellectual disability syndromic and non-syndromic v0.572 KMT2B Zornitza Stark reviewed gene: KMT2B: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Dystonia 28, childhood-onset, MIM#617284; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.570 KLLN Zornitza Stark reviewed gene: KLLN: Rating: RED; Mode of pathogenicity: None; Publications: 21177507; Phenotypes: ; Mode of inheritance: None
Intellectual disability syndromic and non-syndromic v0.568 KLF8 Zornitza Stark reviewed gene: KLF8: Rating: RED; Mode of pathogenicity: None; Publications: 11836360; Phenotypes: ; Mode of inheritance: None
Intellectual disability syndromic and non-syndromic v0.565 KLF7 Zornitza Stark reviewed gene: KLF7: Rating: GREEN; Mode of pathogenicity: None; Publications: 29251763; Phenotypes: Intellectual disability; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.561 KIRREL3 Zornitza Stark reviewed gene: KIRREL3: Rating: RED; Mode of pathogenicity: None; Publications: 19012874; Phenotypes: Intellectual disability; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.558 KIF21A Zornitza Stark reviewed gene: KIF21A: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Fibrosis of extraocular muscles, congenital, 1, MIM#135700; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.554 KIF16B Zornitza Stark reviewed gene: KIF16B: Rating: RED; Mode of pathogenicity: None; Publications: 29736960; Phenotypes: Intellectual disability; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.553 KDM6B Zornitza Stark gene: KDM6B was added
gene: KDM6B was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert list
Mode of inheritance for gene: KDM6B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KDM6B were set to 31124279
Phenotypes for gene: KDM6B were set to Intellectual disability
Review for gene: KDM6B was set to GREEN
Added comment: 12 unrelated individuals with de novo variants in this gene, no functional evidence reported but KDM6B involved in histone methylation.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.548 KCTD13 Zornitza Stark reviewed gene: KCTD13: Rating: RED; Mode of pathogenicity: None; Publications: 22596160, 29088697; Phenotypes: Intellectual disability; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.548 KCNMA1 Zornitza Stark Phenotypes for gene: KCNMA1 were changed from to Cerebellar atrophy, developmental delay, and seizures, MIM# 617643; Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy, MIM#609446
Intellectual disability syndromic and non-syndromic v0.546 KCNMA1 Zornitza Stark Mode of inheritance for gene: KCNMA1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.545 KCNMA1 Zornitza Stark reviewed gene: KCNMA1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 27567911, 29545233, 26195193, 31427379; Phenotypes: Cerebellar atrophy, developmental delay, and seizures, MIM# 617643, Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy, MIM#609446; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.542 KCNJ1 Zornitza Stark reviewed gene: KCNJ1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Bartter syndrome, type 2, MIM#241200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.539 KCND3 Zornitza Stark reviewed gene: KCND3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Spinocerebellar ataxia 19, MIM#607346; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.536 KCNC3 Zornitza Stark reviewed gene: KCNC3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Spinocerebellar ataxia 13, MIM#605259; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.533 TREM2 Chirag Patel Source Genetic Health Queensland was removed from TREM2.
Source Expert list was added to TREM2.
Phenotypes for gene: TREM2 were changed from to Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2; OMIM #618193
Intellectual disability syndromic and non-syndromic v0.532 TREM2 Chirag Patel reviewed gene: TREM2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2, OMIM #618193; Mode of inheritance: Unknown
Intellectual disability syndromic and non-syndromic v0.531 TRHR Chirag Patel Source Genetic Health Queensland was removed from TRHR.
Source Expert list was added to TRHR.
Mode of inheritance for gene TRHR was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TRHR were changed from to Hypothyroidism, congenital, nongoitrous, 7; OMIM #618573
Intellectual disability syndromic and non-syndromic v0.530 TRHR Chirag Patel reviewed gene: TRHR: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Hypothyroidism, congenital, nongoitrous, 7, OMIM #618573; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.529 TRIM37 Chirag Patel Source Genetic Health Queensland was removed from TRIM37.
Source Expert list was added to TRIM37.
Mode of inheritance for gene TRIM37 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TRIM37 were changed from to Mulibrey nanism; OMIM #253250
Intellectual disability syndromic and non-syndromic v0.528 TRIM37 Chirag Patel reviewed gene: TRIM37: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Mulibrey nanism, OMIM #253250; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.526 TRRAP Chirag Patel commented on gene: TRRAP: 31 unrelated patients with global developmental delay and variably impaired intellectual development associated with de novo heterozygous mutations of TRRAP.
Intellectual disability syndromic and non-syndromic v0.526 TRRAP Chirag Patel gene: TRRAP was added
gene: TRRAP was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert list
Mode of inheritance for gene: TRRAP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TRRAP were set to PubMed: 30827496
Phenotypes for gene: TRRAP were set to Developmental delay with or without dysmorphic facies and autism; OMIM #618454
Review for gene: TRRAP was set to GREEN
Added comment: Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.524 TRMT1 Chirag Patel Deleted their comment
Intellectual disability syndromic and non-syndromic v0.524 TRMT1 Chirag Patel edited their review of gene: TRMT1: Added comment: 4 families reported:
-1 consanguineous Iranian family with 5 individuals with nonsyndromic moderate to severe impaired intellectual development.
-1 consanguineous Iranian family with 3 adult brothers with global developmental delay and moderately delayed intellectual development
-2 unrelated Pakistani families with 4 patients with impaired intellectual development.
All with homozygous mutations in the TRMT1 gene which segregated with the disorder in the families, but functional studies of the variants were not performed.; Changed publications: PMID: 30289604, 26308914, 21937992
Intellectual disability syndromic and non-syndromic v0.524 TRMT1 Chirag Patel Source Genetic Health Queensland was removed from TRMT1.
Source Expert list was added to TRMT1.
Mode of inheritance for gene TRMT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TRMT1 were changed from to Mental retardation, autosomal recessive 68; OMIM #618302
Publications for gene TRMT1 were changed from PMID: 30289604; 26308914 to PMID: 30289604; 26308914
Intellectual disability syndromic and non-syndromic v0.523 TRMT1 Chirag Patel reviewed gene: TRMT1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 30289604, 26308914; Phenotypes: Mental retardation, autosomal recessive 68, OMIM #618302; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.523 TRNT1 Chirag Patel Phenotypes for gene: TRNT1 were changed from Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay; OMIM #616084 to Retinitis pigmentosa and erythrocytic microcytosis, OMIM #616959; Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay, OMIM #616084
Intellectual disability syndromic and non-syndromic v0.522 TRNT1 Chirag Patel Source Genetic Health Queensland was removed from TRNT1.
Source Expert list was added to TRNT1.
Mode of inheritance for gene TRNT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TRNT1 were changed from to Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay; OMIM #616084
Publications for gene TRNT1 were changed from PubMed: 25193871; 23553769; 29170023; 27389523 to PubMed: 25193871; 23553769; 29170023; 27389523
Intellectual disability syndromic and non-syndromic v0.521 TRNT1 Chirag Patel reviewed gene: TRNT1: Rating: GREEN; Mode of pathogenicity: None; Publications: PubMed: 25193871, 23553769, 29170023, 27389523; Phenotypes: Retinitis pigmentosa and erythrocytic microcytosis, OMIM #616959, Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay, OMIM #616084; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.520 TTC21B Chirag Patel Source Genetic Health Queensland was removed from TTC21B.
Source Expert list was added to TTC21B.
Mode of inheritance for gene TTC21B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TTC21B were changed from to Nephronophthisis 12, OMIM #613820; Short-rib thoracic dysplasia 4 with or without polydactyly; OMIM #613819
Intellectual disability syndromic and non-syndromic v0.519 TTC21B Chirag Patel reviewed gene: TTC21B: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Nephronophthisis 12, OMIM #613820, Short-rib thoracic dysplasia 4 with or without polydactyly, OMIM #613819; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.518 TTR Chirag Patel Source Genetic Health Queensland was removed from TTR.
Source Expert list was added to TTR.
Mode of inheritance for gene TTR was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: TTR were changed from to Amyloidosis, hereditary, transthyretin-related, OMIM #105210; Carpal tunnel syndrome, familial; OMIM #115430
Intellectual disability syndromic and non-syndromic v0.517 TTR Chirag Patel reviewed gene: TTR: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Amyloidosis, hereditary, transthyretin-related, OMIM #105210, Carpal tunnel syndrome, familial, OMIM #115430; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.516 TUFM Chirag Patel Source Genetic Health Queensland was removed from TUFM.
Source Expert list was added to TUFM.
Mode of inheritance for gene TUFM was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TUFM were changed from to Combined oxidative phosphorylation deficiency 4; OMIM #610678
Publications for gene TUFM were changed from PubMed: 26741492; 17160893 to PubMed: 26741492; 17160893
Intellectual disability syndromic and non-syndromic v0.515 TUFM Chirag Patel Deleted their comment
Intellectual disability syndromic and non-syndromic v0.515 TUFM Chirag Patel edited their review of gene: TUFM: Added comment: Developmental regression seen as part of mitochondrial disorder - 3 families

1 patient with rapidly progressive encephalopathy and homozygous missense mutation in the TUFM gene. No functional studies.

2 families with 2 children each with COXPD4 and biallelic mutations in the TUFM gene. The mutations segregated with the disorder in the families. Complementation with wildtype TUFM restored the complex I and IV assembly and complex IV activity levels in fibroblasts from 1 of the patients.; Changed rating: AMBER
Intellectual disability syndromic and non-syndromic v0.515 TUFM Chirag Patel reviewed gene: TUFM: Rating: GREEN; Mode of pathogenicity: None; Publications: PubMed: 26741492, 17160893; Phenotypes: Combined oxidative phosphorylation deficiency 4, OMIM #610678; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.514 TWNK Chirag Patel Source Genetic Health Queensland was removed from TWNK.
Source Expert list was added to TWNK.
Mode of inheritance for gene TWNK was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: TWNK were changed from to Mitochondrial DNA depletion syndrome 7 (hepatocerebral type), OMIM #271245; Perrault syndrome 5, OMIM #616138; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3, OMIM #609286
Intellectual disability syndromic and non-syndromic v0.513 TWNK Chirag Patel reviewed gene: TWNK: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial DNA depletion syndrome 7 (hepatocerebral type), OMIM #271245, Perrault syndrome 5, OMIM #616138, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3, OMIM #609286; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.509 KANK1 Zornitza Stark reviewed gene: KANK1: Rating: RED; Mode of pathogenicity: None; Publications: 16301218, 30684669; Phenotypes: Cerebral palsy, spastic quadriplegic, 2, MIM#612900; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.509 ACTA1 Zornitza Stark Phenotypes for gene: ACTA1 were changed from to Myopathy, actin, congenital, with excess of thin myofilaments, MIM#161800; Nemaline myopathy 3, MIM#161800; Myopathy, actin, congenital, with cores, MIM#161800
Intellectual disability syndromic and non-syndromic v0.507 ACTA1 Zornitza Stark Mode of inheritance for gene: ACTA1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.499 JAG1 Zornitza Stark reviewed gene: JAG1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Alagille syndrome 1, MIM#118450; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.499 IYD Zornitza Stark Phenotypes for gene: IYD were changed from to Thyroid dyshormonogenesis 4, MIM#274800
Intellectual disability syndromic and non-syndromic v0.496 IYD Zornitza Stark reviewed gene: IYD: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Thyroid dyshormonogenesis 4, MIM#274800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.496 ITCH Zornitza Stark Phenotypes for gene: ITCH were changed from to Autoimmune disease, multisystem, with facial dysmorphism, MIM#613385
Intellectual disability syndromic and non-syndromic v0.492 ITCH Zornitza Stark reviewed gene: ITCH: Rating: AMBER; Mode of pathogenicity: None; Publications: 20170897; Phenotypes: Autoimmune disease, multisystem, with facial dysmorphism, MIM#613385; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.491 IREB2 Zornitza Stark gene: IREB2 was added
gene: IREB2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Literature
Mode of inheritance for gene: IREB2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IREB2 were set to 30915432; 31243445; 11175792
Phenotypes for gene: IREB2 were set to Neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia, MIM#618451
Review for gene: IREB2 was set to GREEN
Added comment: Two affected individuals from unrelated families with functional evidence including concordant phenotype in mice.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.487 INS Zornitza Stark reviewed gene: INS: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Diabetes mellitus, permanent neonatal, MIM#606176; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.483 IMPA1 Zornitza Stark reviewed gene: IMPA1: Rating: AMBER; Mode of pathogenicity: None; Publications: 26416544, 30616629; Phenotypes: Mental retardation, autosomal recessive 59, MIM#617323; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.479 IMMP2L Zornitza Stark reviewed gene: IMMP2L: Rating: RED; Mode of pathogenicity: None; Publications: 29788020, 29152845; Phenotypes: Autism; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.479 IGF2 Zornitza Stark Phenotypes for gene: IGF2 were changed from to Growth restriction, severe, with distinctive facies, MIM#616489
Intellectual disability syndromic and non-syndromic v0.476 IGF2 Zornitza Stark reviewed gene: IGF2: Rating: RED; Mode of pathogenicity: None; Publications: 31544945, 26154720; Phenotypes: Growth restriction, severe, with distinctive facies, MIM#616489; Mode of inheritance: None
Intellectual disability syndromic and non-syndromic v0.473 IFT27 Zornitza Stark reviewed gene: IFT27: Rating: GREEN; Mode of pathogenicity: None; Publications: 24488770, 30761183; Phenotypes: Bardet-Biedl syndrome 19, MIM#615996; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.472 MYMK Chirag Patel Added comment: Comment on list classification: r/v with Dr Stark - not ID gene.
Intellectual disability syndromic and non-syndromic v0.471 UQCC2 Chirag Patel changed review comment from: Only 2 patients with mitochondrial disorder reported and they had ID; to: Only 2 patients with mitochondrial disorder reported and they had ID, with some functional evidence.
Intellectual disability syndromic and non-syndromic v0.471 UQCRQ Chirag Patel Added comment: Comment on list classification: r/v with Z.Stark - one family and no reports >10 years.
Intellectual disability syndromic and non-syndromic v0.470 VPS37A Chirag Patel Added comment: Comment on list classification: r/v with Z.Stark - 2 families with functional data.
Intellectual disability syndromic and non-syndromic v0.469 WASHC4 Chirag Patel Added comment: Comment on list classification: r/v with Z.Stark - single family with limited functional evidence
Intellectual disability syndromic and non-syndromic v0.468 WASHC5 Chirag Patel Added comment: Comment on list classification: reviewed with Z.Stark - one family with founder mutation
Intellectual disability syndromic and non-syndromic v0.467 ZNF423 Chirag Patel Added comment: Comment on list classification: reviewed with Zornitza stark - single family only.
Intellectual disability syndromic and non-syndromic v0.463 DUOXA2 Zornitza Stark edited their review of gene: DUOXA2: Changed rating: RED
Intellectual disability syndromic and non-syndromic v0.462 GCK Zornitza Stark edited their review of gene: GCK: Changed rating: RED
Intellectual disability syndromic and non-syndromic v0.461 MYO7A Chirag Patel Source Genetic Health Queensland was removed from MYO7A.
Source Expert list was added to MYO7A.
Mode of inheritance for gene MYO7A was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: MYO7A were changed from to Deafness, autosomal dominant 11, OMIM #601317; Deafness, autosomal recessive 2, OMIM #600060; Usher syndrome, type 1B, OMIM #276900
Intellectual disability syndromic and non-syndromic v0.460 MYO7A Chirag Patel reviewed gene: MYO7A: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Deafness, autosomal dominant 11, OMIM #601317, Deafness, autosomal recessive 2, OMIM #600060, Usher syndrome, type 1B, OMIM #276900; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.459 MYMK Chirag Patel Source Genetic Health Queensland was removed from MYMK.
Source Expert list was added to MYMK.
Mode of inheritance for gene MYMK was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MYMK were changed from to Carey-Fineman-Ziter syndrome; OMIM #254940
Intellectual disability syndromic and non-syndromic v0.458 MYMK Chirag Patel reviewed gene: MYMK: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Carey-Fineman-Ziter syndrome, OMIM #254940; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.457 MYH3 Chirag Patel Source Genetic Health Queensland was removed from MYH3.
Source Expert list was added to MYH3.
Mode of inheritance for gene MYH3 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: MYH3 were changed from to Arthrogryposis, distal, type 2A (Freeman-Sheldon), OMIM #193700; Arthrogryposis, distal, type 2B3 (Sheldon-Hall), OMIM #618436; Contractures, pterygia, and variable skeletal fusions syndrome 1A, OMIM #178110; Contractures, pterygia, and variable skeletal fusions syndrome 1B, OMIM #618469
Intellectual disability syndromic and non-syndromic v0.456 MYH3 Chirag Patel reviewed gene: MYH3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Arthrogryposis, distal, type 2A (Freeman-Sheldon), OMIM #193700, Arthrogryposis, distal, type 2B3 (Sheldon-Hall), OMIM #618436, Contractures, pterygia, and variable skeletal fusions syndrome 1A, OMIM #178110, Contractures, pterygia, and variable skeletal fusions syndrome 1B, OMIM #618469; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.455 MTPAP Chirag Patel Source Genetic Health Queensland was removed from MTPAP.
Source Expert list was added to MTPAP.
Mode of inheritance for gene MTPAP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MTPAP were changed from to ?Spastic ataxia 4, autosomal recessive; OMIM#613672
Intellectual disability syndromic and non-syndromic v0.454 MTPAP Chirag Patel reviewed gene: MTPAP: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ?Spastic ataxia 4, autosomal recessive, OMIM#613672; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.454 MTO1 Chirag Patel Deleted their comment
Intellectual disability syndromic and non-syndromic v0.454 MTO1 Chirag Patel edited their review of gene: MTO1: Added comment: ID is seen as part of this mitochondrial disorder - >35 families reported; Changed publications: PMID: 26061759, 29331171, 23929671
Intellectual disability syndromic and non-syndromic v0.454 MTO1 Chirag Patel Source Genetic Health Queensland was removed from MTO1.
Source Expert list was added to MTO1.
Mode of inheritance for gene MTO1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MTO1 were changed from to Combined oxidative phosphorylation deficiency 10; OMIM #614702
Publications for gene MTO1 were changed from PMID: 26061759; 29331171; 23929671 to PMID: 26061759; 29331171; 23929671
Intellectual disability syndromic and non-syndromic v0.453 MTO1 Chirag Patel reviewed gene: MTO1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 26061759, 29331171; Phenotypes: Combined oxidative phosphorylation deficiency 10, OMIM #614702; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.452 MTMR2 Chirag Patel Source Genetic Health Queensland was removed from MTMR2.
Source Expert list was added to MTMR2.
Mode of inheritance for gene MTMR2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MTMR2 were changed from to Charcot-Marie-Tooth disease, type 4B1; OMIM #601382
Intellectual disability syndromic and non-syndromic v0.451 MTMR2 Chirag Patel reviewed gene: MTMR2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Charcot-Marie-Tooth disease, type 4B1, OMIM #601382; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.451 IFT140 Zornitza Stark Phenotypes for gene: IFT140 were changed from to Short-rib thoracic dysplasia 9 with or without polydactyly, MIM#266920
Intellectual disability syndromic and non-syndromic v0.449 IFT140 Zornitza Stark reviewed gene: IFT140: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Short-rib thoracic dysplasia 9 with or without polydactyly, MIM#266920; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.449 MSH6 Chirag Patel Source Genetic Health Queensland was removed from MSH6.
Source Expert list was added to MSH6.
Mode of inheritance for gene MSH6 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: MSH6 were changed from to Colorectal cancer, hereditary nonpolyposis, type 5, OMIM #614350; Mismatch repair cancer syndrome, OMIM #276300
Intellectual disability syndromic and non-syndromic v0.447 MSH6 Chirag Patel reviewed gene: MSH6: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Colorectal cancer, hereditary nonpolyposis, type 5, OMIM #614350, Mismatch repair cancer syndrome, OMIM #276300; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.446 MTM1 Chirag Patel Source Genetic Health Queensland was removed from MTM1.
Source Expert list was added to MTM1.
Mode of inheritance for gene MTM1 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: MTM1 were changed from to Myotubular myopathy, X-linked; OMIM#310400
Intellectual disability syndromic and non-syndromic v0.445 MTM1 Chirag Patel reviewed gene: MTM1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Myotubular myopathy, X-linked, OMIM#310400; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Intellectual disability syndromic and non-syndromic v0.444 MRPS16 Chirag Patel Source Genetic Health Queensland was removed from MRPS16.
Source Expert list was added to MRPS16.
Mode of inheritance for gene MRPS16 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MRPS16 were changed from to Combined oxidative phosphorylation deficiency 2; OMIM #610498
Publications for gene MRPS16 were changed from PubMed: 15505824 to PubMed: 15505824
Intellectual disability syndromic and non-syndromic v0.443 MRPS16 Chirag Patel reviewed gene: MRPS16: Rating: RED; Mode of pathogenicity: None; Publications: PubMed: 15505824; Phenotypes: Combined oxidative phosphorylation deficiency 2, OMIM #610498; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.442 MRPL3 Chirag Patel Source Genetic Health Queensland was removed from MRPL3.
Source Expert list was added to MRPL3.
Mode of inheritance for gene MRPL3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MRPL3 were changed from to Combined oxidative phosphorylation deficiency 9; OMIM #614582
Publications for gene MRPL3 were changed from PubMed: 27815843; 21786366 to PubMed: 27815843; 21786366
Intellectual disability syndromic and non-syndromic v0.441 MRPL3 Chirag Patel reviewed gene: MRPL3: Rating: AMBER; Mode of pathogenicity: None; Publications: PubMed: 27815843, 21786366; Phenotypes: Combined oxidative phosphorylation deficiency 9, OMIM #614582; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.440 MRAP Chirag Patel Source Genetic Health Queensland was removed from MRAP.
Source Expert list was added to MRAP.
Mode of inheritance for gene MRAP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MRAP were changed from to Glucocorticoid deficiency 2; OMIM #607398
Intellectual disability syndromic and non-syndromic v0.439 MRAP Chirag Patel reviewed gene: MRAP: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Glucocorticoid deficiency 2, OMIM #607398; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.439 MPV17 Chirag Patel Source Genetic Health Queensland was removed from MPV17.
Source Expert list was added to MPV17.
Mode of inheritance for gene MPV17 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MPV17 were changed from to Charcot-Marie-Tooth disease, axonal, type 2EE, OMIM #618400; Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), OMIM #256810
Publications for gene MPV17 were changed from PMID: 22593919 to PMID: 22593919
Intellectual disability syndromic and non-syndromic v0.438 MPV17 Chirag Patel reviewed gene: MPV17: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 22593919; Phenotypes: Charcot-Marie-Tooth disease, axonal, type 2EE, OMIM #618400, Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), OMIM #256810; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.436 IBA57 Zornitza Stark reviewed gene: IBA57: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Multiple mitochondrial dysfunctions syndrome 3, MIM#615330; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.435 MPZ Chirag Patel Source Genetic Health Queensland was removed from MPZ.
Source Expert list was added to MPZ.
Mode of inheritance for gene MPZ was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes for gene: MPZ were changed from to Various CMT types
Intellectual disability syndromic and non-syndromic v0.434 MPZ Chirag Patel reviewed gene: MPZ: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Various CMT types; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.433 MPDZ Chirag Patel Source Genetic Health Queensland was removed from MPDZ.
Source Expert list was added to MPDZ.
Mode of inheritance for gene MPDZ was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MPDZ were changed from to Hydrocephalus, congenital, 2, with or without brain or eye anomalies; OMIM #615219
Intellectual disability syndromic and non-syndromic v0.432 MPDZ Chirag Patel reviewed gene: MPDZ: Rating: GREEN; Mode of pathogenicity: None; Publications: PubMed: 28556411, 23240096; Phenotypes: Hydrocephalus, congenital, 2, with or without brain or eye anomalies, OMIM #615219; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.431 MNX1 Chirag Patel Source Genetic Health Queensland was removed from MNX1.
Source Expert list was added to MNX1.
Mode of inheritance for gene MNX1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: MNX1 were changed from to Currarino syndrome; OMIM #176450
Intellectual disability syndromic and non-syndromic v0.430 MNX1 Chirag Patel reviewed gene: MNX1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Currarino syndrome, OMIM #176450; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.429 MLH1 Chirag Patel Source Genetic Health Queensland was removed from MLH1.
Source Expert list was added to MLH1.
Mode of inheritance for gene MLH1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: MLH1 were changed from to Mismatch repair cancer syndrome, OMIM #276300; Muir-Torre syndrome, OMIM #158320
Intellectual disability syndromic and non-syndromic v0.428 MLH1 Chirag Patel reviewed gene: MLH1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Mismatch repair cancer syndrome, OMIM #276300, Muir-Torre syndrome, OMIM #158320; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.428 MIR17HG Chirag Patel Source Genetic Health Queensland was removed from MIR17HG.
Source Expert list was added to MIR17HG.
Mode of inheritance for gene MIR17HG was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: MIR17HG were changed from to Feingold syndrome 2; OMIM #614326
Publications for gene MIR17HG were changed from PMID: 25391829; 21892160 to PMID: 25391829; 21892160
Intellectual disability syndromic and non-syndromic v0.427 MIR17HG Chirag Patel reviewed gene: MIR17HG: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 25391829, 21892160; Phenotypes: Feingold syndrome 2, OMIM #614326; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.426 MID2 Chirag Patel Source Genetic Health Queensland was removed from MID2.
Source Expert list was added to MID2.
Mode of inheritance for gene MID2 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: MID2 were changed from to ?Mental retardation, X-linked 101; OMIM#300928
Publications for gene MID2 were changed from PubMed: 24115387 to PubMed: 24115387
Intellectual disability syndromic and non-syndromic v0.425 MID2 Chirag Patel reviewed gene: MID2: Rating: RED; Mode of pathogenicity: None; Publications: PubMed: 24115387; Phenotypes: ?Mental retardation, X-linked 101, OMIM#300928; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Intellectual disability syndromic and non-syndromic v0.424 MGP Chirag Patel Source Genetic Health Queensland was removed from MGP.
Source Expert list was added to MGP.
Mode of inheritance for gene MGP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MGP were changed from to Keutel syndrome; OMIM #245150
Intellectual disability syndromic and non-syndromic v0.423 MGP Chirag Patel reviewed gene: MGP: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Keutel syndrome, OMIM #245150; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.422 MGME1 Chirag Patel Source Genetic Health Queensland was removed from MGME1.
Source Expert list was added to MGME1.
Mode of inheritance for gene MGME1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MGME1 were changed from to Mitochondrial DNA depletion syndrome 11; OMIM#615084
Publications for gene MGME1 were changed from PubMed: 23313956 to PubMed: 23313956
Intellectual disability syndromic and non-syndromic v0.421 MGME1 Chirag Patel reviewed gene: MGME1: Rating: RED; Mode of pathogenicity: None; Publications: PubMed: 23313956; Phenotypes: Mitochondrial DNA depletion syndrome 11, OMIM#615084; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.420 MFN2 Chirag Patel Source Genetic Health Queensland was removed from MFN2.
Source Expert list was added to MFN2.
Mode of inheritance for gene MFN2 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: MFN2 were changed from to Charcot-Marie-Tooth disease, axonal, type 2A2A, OMIM #609260; Charcot-Marie-Tooth disease, axonal, type 2A2B, OMIM #617087; Hereditary motor and sensory neuropathy VIA, OMIM #601152
Intellectual disability syndromic and non-syndromic v0.419 MFN2 Chirag Patel reviewed gene: MFN2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Charcot-Marie-Tooth disease, axonal, type 2A2A, OMIM #609260, Charcot-Marie-Tooth disease, axonal, type 2A2B, OMIM #617087, Hereditary motor and sensory neuropathy VIA, OMIM #601152; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.419 METTL23 Chirag Patel Source Genetic Health Queensland was removed from METTL23.
Source Expert list was added to METTL23.
Mode of inheritance for gene METTL23 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: METTL23 were changed from to Mental retardation, autosomal recessive 44; OMIM#615942
Publications for gene METTL23 were changed from PubMed: 24501276; 24626631 to PubMed: 24501276; 24626631
Intellectual disability syndromic and non-syndromic v0.418 METTL23 Chirag Patel reviewed gene: METTL23: Rating: GREEN; Mode of pathogenicity: None; Publications: PubMed: 24501276, 24626631; Phenotypes: Mental retardation, autosomal recessive 44, OMIM#615942; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.417 MET Chirag Patel Source Genetic Health Queensland was removed from MET.
Source Expert list was added to MET.
Mode of inheritance for gene MET was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: MET were changed from to ?Deafness, autosomal recessive 97, OMIM #616705; {Osteofibrous dysplasia, susceptibility to}, OMIM #607278
Intellectual disability syndromic and non-syndromic v0.416 MET Chirag Patel reviewed gene: MET: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ?Deafness, autosomal recessive 97, OMIM #616705, {Osteofibrous dysplasia, susceptibility to}, OMIM #607278; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.416 MEGF8 Chirag Patel Source Genetic Health Queensland was removed from MEGF8.
Source Expert list was added to MEGF8.
Mode of inheritance for gene MEGF8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MEGF8 were changed from to Carpenter syndrome 2; OMIM #614976
Intellectual disability syndromic and non-syndromic v0.415 MEGF8 Chirag Patel reviewed gene: MEGF8: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 3993675; Phenotypes: Carpenter syndrome 2, OMIM #614976; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.414 MCM4 Chirag Patel Source Genetic Health Queensland was removed from MCM4.
Source Expert list was added to MCM4.
Mode of inheritance for gene MCM4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MCM4 were changed from to Immunodeficiency 54; OMIM #609981
Intellectual disability syndromic and non-syndromic v0.413 MCM4 Chirag Patel reviewed gene: MCM4: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Immunodeficiency 54, OMIM #609981; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.412 MARS2 Chirag Patel Source Genetic Health Queensland was removed from MARS2.
Source Expert list was added to MARS2.
Mode of inheritance for gene MARS2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MARS2 were changed from to ?Combined oxidative phosphorylation deficiency 25, OMIM #616430; Spastic ataxia 3, autosomal recessive, OMIM #611390
Publications for gene MARS2 were changed from PMID: 25754315 to PMID: 25754315
Intellectual disability syndromic and non-syndromic v0.411 MARS2 Chirag Patel reviewed gene: MARS2: Rating: AMBER; Mode of pathogenicity: None; Publications: PubMed: 25754315; Phenotypes: ?Combined oxidative phosphorylation deficiency 25, OMIM #616430, Spastic ataxia 3, autosomal recessive, OMIM #611390; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.411 HYLS1 Zornitza Stark Phenotypes for gene: HYLS1 were changed from to Hydrolethalus syndrome, MIM#236680
Intellectual disability syndromic and non-syndromic v0.408 HYLS1 Zornitza Stark reviewed gene: HYLS1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Hydrolethalus syndrome, MIM#236680; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.406 HSPG2 Zornitza Stark reviewed gene: HSPG2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Schwartz-Jampel syndrome, type 1, MIM#255800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.405 MAGT1 Chirag Patel Source Genetic Health Queensland was removed from MAGT1.
Source Expert list was added to MAGT1.
Mode of inheritance for gene MAGT1 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: MAGT1 were changed from to Congenital disorder of glycosylation, type Icc, OMIM #301031; Immunodeficiency, X-linked, with magnesium defect, Epstein-Barr virus infection and neoplasia, OMIM #300853
Publications for gene MAGT1 were changed from PMID: 31036665 to PMID: 31036665
Intellectual disability syndromic and non-syndromic v0.404 MAGT1 Chirag Patel reviewed gene: MAGT1: Rating: AMBER; Mode of pathogenicity: None; Publications: PubMed: 31036665; Phenotypes: Congenital disorder of glycosylation, type Icc, OMIM #301031, Immunodeficiency, X-linked, with magnesium defect, Epstein-Barr virus infection and neoplasia, OMIM #300853; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Intellectual disability syndromic and non-syndromic v0.401 HOXD10 Zornitza Stark reviewed gene: HOXD10: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Vertical talus, congenital, MIM#192950; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.400 ORC4 Chirag Patel Source Genetic Health Queensland was removed from ORC4.
Source Expert list was added to ORC4.
Mode of inheritance for gene ORC4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ORC4 were changed from to Meier-Gorlin syndrome 2; OMIM #613800
Intellectual disability syndromic and non-syndromic v0.399 ORC4 Chirag Patel reviewed gene: ORC4: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Meier-Gorlin syndrome 2, OMIM #613800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.398 ORC6 Chirag Patel Source Genetic Health Queensland was removed from ORC6.
Source Expert list was added to ORC6.
Mode of inheritance for gene ORC6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ORC6 were changed from to Meier-Gorlin syndrome 3; OMIM #613803
Intellectual disability syndromic and non-syndromic v0.397 ORC6 Chirag Patel reviewed gene: ORC6: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Meier-Gorlin syndrome 3, OMIM #613803; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.394 HNMT Zornitza Stark reviewed gene: HNMT: Rating: GREEN; Mode of pathogenicity: None; Publications: 26206890, 30744146; Phenotypes: Mental retardation, autosomal recessive 51, MIM#616739; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.394 VPS37A Chirag Patel changed review comment from: ID reported in this type of HSP in 2 families.

Zivony-Elboum et al. (2012) reported 9 patients from 2 Arab Moslem families with early-onset spastic paraplegia. Affected individuals showed developmental and motor delay during the first 2 years of life. They had unsteadiness in standing and difficulty walking. All affected children presented with spasticity in the lower limbs that progressed to the upper extremities. All had mild to moderate cognitive and speech delay.; to: ID reported in this type of HSP in 2 families.

Zivony-Elboum et al. (2012) reported 9 patients from 2 Arab Moslem families with early-onset spastic paraplegia. Affected individuals showed developmental and motor delay during the first 2 years of life. They had unsteadiness in standing and difficulty walking. All affected children presented with spasticity in the lower limbs that progressed to the upper extremities. All had mild to moderate cognitive and speech delay. Functional studied performed.
Intellectual disability syndromic and non-syndromic v0.390 HAL Zornitza Stark reviewed gene: HAL: Rating: RED; Mode of pathogenicity: None; Publications: 4421298, 7119955; Phenotypes: [Histidinemia], MIM#235800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.389 UCHL1 Chirag Patel Source Genetic Health Queensland was removed from UCHL1.
Source Expert list was added to UCHL1.
Mode of inheritance for gene UCHL1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: UCHL1 were changed from to Spastic paraplegia 79, autosomal recessive; OMIM #615491
Intellectual disability syndromic and non-syndromic v0.388 UCHL1 Chirag Patel reviewed gene: UCHL1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Spastic paraplegia 79, autosomal recessive, OMIM #615491; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.387 UFM1 Chirag Patel commented on gene: UFM1: 20 families reported with encephalopathy/ID phenotype with functional studies.
Intellectual disability syndromic and non-syndromic v0.385 UGT1A1 Chirag Patel Source Genetic Health Queensland was removed from UGT1A1.
Source Expert list was added to UGT1A1.
Mode of inheritance for gene UGT1A1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: UGT1A1 were changed from to Crigler-Najjar syndrome, type I, OMIM #218800; Crigler-Najjar syndrome, type II, OMIM #606785
Intellectual disability syndromic and non-syndromic v0.384 UGT1A1 Chirag Patel reviewed gene: UGT1A1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Crigler-Najjar syndrome, type I, OMIM #218800, Crigler-Najjar syndrome, type II, OMIM #606785; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.383 UNC13D Chirag Patel Source Genetic Health Queensland was removed from UNC13D.
Source Expert list was added to UNC13D.
Mode of inheritance for gene UNC13D was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: UNC13D were changed from to Hemophagocytic lymphohistiocytosis, familial, 3; OMIM #608898
Intellectual disability syndromic and non-syndromic v0.382 UNC13D Chirag Patel reviewed gene: UNC13D: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Hemophagocytic lymphohistiocytosis, familial, 3, OMIM #608898; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.382 UQCC2 Chirag Patel Source Genetic Health Queensland was removed from UQCC2.
Source Expert list was added to UQCC2.
Mode of inheritance for gene UQCC2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: UQCC2 were changed from to Mitochondrial complex III deficiency, nuclear type 7; OMIM #615824
Publications for gene UQCC2 were changed from PubMed: 28804536; 24385928 to PubMed: 28804536; 24385928
Intellectual disability syndromic and non-syndromic v0.380 UQCC2 Chirag Patel reviewed gene: UQCC2: Rating: AMBER; Mode of pathogenicity: None; Publications: PubMed: 28804536, 24385928; Phenotypes: Mitochondrial complex III deficiency, nuclear type 7, OMIM #615824; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.379 UQCRB Chirag Patel Source Genetic Health Queensland was removed from UQCRB.
Source Expert list was added to UQCRB.
Mode of inheritance for gene UQCRB was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: UQCRB were changed from to Mitochondrial complex III deficiency, nuclear type 3; OMIM #615158
Publications for gene UQCRB were changed from PubMed: 12709789; 28604960 to PubMed: 12709789; 28604960
Intellectual disability syndromic and non-syndromic v0.378 UQCRB Chirag Patel reviewed gene: UQCRB: Rating: RED; Mode of pathogenicity: None; Publications: PubMed: 12709789, 28604960; Phenotypes: Mitochondrial complex III deficiency, nuclear type 3, OMIM #615158; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.378 UQCRC2 Chirag Patel Source Genetic Health Queensland was removed from UQCRC2.
Source Expert list was added to UQCRC2.
Mode of inheritance for gene UQCRC2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: UQCRC2 were changed from to Mitochondrial complex III deficiency, nuclear type 5; OMIM #615160
Intellectual disability syndromic and non-syndromic v0.376 UQCRC2 Chirag Patel reviewed gene: UQCRC2: Rating: RED; Mode of pathogenicity: None; Publications: PubMed: 28275242; Phenotypes: Mitochondrial complex III deficiency, nuclear type 5, OMIM #615160; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.375 UQCRQ Chirag Patel Source Genetic Health Queensland was removed from UQCRQ.
Source Expert list was added to UQCRQ.
Mode of inheritance for gene UQCRQ was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: UQCRQ were changed from to Mitochondrial complex III deficiency, nuclear type 4; OMIM #615159
Publications for gene UQCRQ were changed from PubMed: 18439546 to PubMed: 18439546
Intellectual disability syndromic and non-syndromic v0.374 UQCRQ Chirag Patel reviewed gene: UQCRQ: Rating: AMBER; Mode of pathogenicity: None; Publications: PubMed: 18439546; Phenotypes: Mitochondrial complex III deficiency, nuclear type 4, OMIM #615159; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.373 VAMP1 Chirag Patel reviewed gene: VAMP1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Spastic ataxia 1, autosomal dominant, OMIM #108600, Myasthenic syndrome, congenital, 25, OMIM #618323; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.373 VAMP1 Chirag Patel Source Genetic Health Queensland was removed from VAMP1.
Source Expert list was added to VAMP1.
Mode of inheritance for gene VAMP1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: VAMP1 were changed from to Spastic ataxia 1, autosomal dominant, OMIM #108600; Myasthenic syndrome, congenital, 25, OMIM #618323
Intellectual disability syndromic and non-syndromic v0.371 VANGL1 Chirag Patel reviewed gene: VANGL1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Caudal regression syndrome, OMIM #600145, {Neural tube defects, susceptibility to}, OMIM #182940; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.371 VANGL1 Chirag Patel Source Genetic Health Queensland was removed from VANGL1.
Source Expert list was added to VANGL1.
Mode of inheritance for gene VANGL1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: VANGL1 were changed from to Caudal regression syndrome, OMIM #600145; {Neural tube defects, susceptibility to}, OMIM #182940
Intellectual disability syndromic and non-syndromic v0.370 VARS2 Chirag Patel Source Genetic Health Queensland was removed from VARS2.
Source Expert list was added to VARS2.
Mode of inheritance for gene VARS2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: VARS2 were changed from to Combined oxidative phosphorylation deficiency 20; OMIM #615917
Publications for gene VARS2 were changed from PubMed: 24827421; 25058219; 29137650; 29314548; 31064326 to PubMed: 24827421; 25058219; 29137650; 29314548; 31064326
Intellectual disability syndromic and non-syndromic v0.369 VARS2 Chirag Patel Deleted their comment
Intellectual disability syndromic and non-syndromic v0.369 VARS2 Chirag Patel edited their review of gene: VARS2: Added comment: Multiple patients reported with ID, encephalopathy as part of this mitochondrial disorder.; Changed rating: GREEN; Changed publications: PubMed: 24827421, 25058219, 29137650, 29314548, 31064326
Intellectual disability syndromic and non-syndromic v0.369 VARS2 Chirag Patel reviewed gene: VARS2: Rating: AMBER; Mode of pathogenicity: None; Publications: PubMed: 24827421, 25058219,; Phenotypes: Combined oxidative phosphorylation deficiency 20, OMIM #615917; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.369 VIPAS39 Chirag Patel Source Genetic Health Queensland was removed from VIPAS39.
Source Expert list was added to VIPAS39.
Mode of inheritance for gene VIPAS39 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: VIPAS39 were changed from to Arthrogryposis, renal dysfunction, and cholestasis 2; OMIM #613404
Publications for gene VIPAS39 were changed from PMID: 20190753 to PMID: 20190753
Intellectual disability syndromic and non-syndromic v0.368 VIPAS39 Chirag Patel reviewed gene: VIPAS39: Rating: GREEN; Mode of pathogenicity: None; Publications: PubMed: 20190753; Phenotypes: Arthrogryposis, renal dysfunction, and cholestasis 2, OMIM #613404; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.368 VPS33B Chirag Patel Source Genetic Health Queensland was removed from VPS33B.
Source Expert list was added to VPS33B.
Mode of inheritance for gene VPS33B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: VPS33B were changed from to Arthrogryposis, renal dysfunction, and cholestasis 1; OMIM #208085
Publications for gene VPS33B were changed from PMID: 31240160; 30561130 to PMID: 31240160; 30561130
Intellectual disability syndromic and non-syndromic v0.367 VPS33B Chirag Patel reviewed gene: VPS33B: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 31240160, 30561130; Phenotypes: Arthrogryposis, renal dysfunction, and cholestasis 1, OMIM #208085; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.366 VPS37A Chirag Patel Source Genetic Health Queensland was removed from VPS37A.
Source Expert list was added to VPS37A.
Mode of inheritance for gene VPS37A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: VPS37A were changed from to Spastic paraplegia 53, autosomal recessive; OMIM #614898
Publications for gene VPS37A were changed from PMID: 22717650 to PMID: 22717650
Intellectual disability syndromic and non-syndromic v0.365 VPS37A Chirag Patel reviewed gene: VPS37A: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 22717650; Phenotypes: Spastic paraplegia 53, autosomal recessive, OMIM #614898; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.364 VPS45 Chirag Patel Source Genetic Health Queensland was removed from VPS45.
Source Expert list was added to VPS45.
Mode of inheritance for gene VPS45 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: VPS45 were changed from to Neutropenia, severe congenital, 5, autosomal recessive; OMIM #615285
Intellectual disability syndromic and non-syndromic v0.363 VPS45 Chirag Patel reviewed gene: VPS45: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Neutropenia, severe congenital, 5, autosomal recessive, OMIM #615285; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.362 WASF1 Chirag Patel edited their review of gene: WASF1: Added comment: 5 unrelated individuals with moderate to profound intellectual disability with autistic features and seizures. Functional studies using fibroblast cells from two affected individuals showed a truncated WASF1 and a defect in actin remodeling.; Changed phenotypes: No OMIM phenotype # yet.
Intellectual disability syndromic and non-syndromic v0.360 WASHC4 Chirag Patel Source Genetic Health Queensland was removed from WASHC4.
Source Expert list was added to WASHC4.
Mode of inheritance for gene WASHC4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: WASHC4 were changed from to ?Mental retardation, autosomal recessive 43; OMIM #615817
Publications for gene WASHC4 were changed from PubMed: 21498477 to PubMed: 21498477
Intellectual disability syndromic and non-syndromic v0.359 WASHC4 Chirag Patel reviewed gene: WASHC4: Rating: AMBER; Mode of pathogenicity: None; Publications: PubMed: 21498477; Phenotypes: ?Mental retardation, autosomal recessive 43, OMIM #615817; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.358 WASHC5 Chirag Patel Source Genetic Health Queensland was removed from WASHC5.
Source Expert list was added to WASHC5.
Mode of inheritance for gene WASHC5 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: WASHC5 were changed from to Spastic paraplegia 8, autosomal dominant, OMIM #603563; Ritscher-Schinzel syndrome 1; OMIM #220210
Publications for gene WASHC5 were changed from PubMed: 24065355 to PubMed: 24065355
Intellectual disability syndromic and non-syndromic v0.357 WASHC5 Chirag Patel reviewed gene: WASHC5: Rating: AMBER; Mode of pathogenicity: None; Publications: PubMed: 24065355; Phenotypes: Spastic paraplegia 8, autosomal dominant, OMIM #603563, Ritscher-Schinzel syndrome 1, OMIM #220210; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.356 WDR11 Chirag Patel reviewed gene: WDR11: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Hypogonadotropic hypogonadism 14 with or without anosmia, OMIM #614858; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.355 WDR13 Chirag Patel reviewed gene: WDR13: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Intellectual disability syndromic and non-syndromic v0.354 WDR19 Chirag Patel reviewed gene: WDR19: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ?Short-rib thoracic dysplasia 5 with or without polydactyly, OMIM #614376, Nephronophthisis 13, OMIM #614377, Senior-Loken syndrome 8, OMIM#616307; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.354 WDR19 Chirag Patel Phenotypes for gene: WDR19 were changed from ?Short-rib thoracic dysplasia 5 with or without polydactyly; OMIM #614376; AR 3 Nephronophthisis 13 614377 AR 3 Senior-Loken syndrome 8 616307 to ?Short-rib thoracic dysplasia 5 with or without polydactyly, OMIM #614376; Nephronophthisis 13, OMIM #614377; Senior-Loken syndrome 8, OMIM#616307
Intellectual disability syndromic and non-syndromic v0.353 WDR19 Chirag Patel Source Genetic Health Queensland was removed from WDR19.
Source Expert list was added to WDR19.
Mode of inheritance for gene WDR19 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: WDR19 were changed from to ?Short-rib thoracic dysplasia 5 with or without polydactyly; OMIM #614376; AR 3 Nephronophthisis 13 614377 AR 3 Senior-Loken syndrome 8 616307
Intellectual disability syndromic and non-syndromic v0.351 WDR34 Chirag Patel Source Genetic Health Queensland was removed from WDR34.
Source Expert list was added to WDR34.
Mode of inheritance for gene WDR34 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: WDR34 were changed from to Short-rib thoracic dysplasia 11 with or without polydactyly; OMIM #615633
Intellectual disability syndromic and non-syndromic v0.350 WDR34 Chirag Patel reviewed gene: WDR34: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Short-rib thoracic dysplasia 11 with or without polydactyly, OMIM #615633; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.349 WDR37 Chirag Patel commented on gene: WDR37: 9 unrelated patients reported, with functional studies.
Intellectual disability syndromic and non-syndromic v0.348 WNT1 Chirag Patel reviewed gene: WNT1: Rating: GREEN; Mode of pathogenicity: None; Publications: PubMed: 26671912; Phenotypes: Osteogenesis imperfecta, type XV, OMIM# 615220; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.348 WNT1 Chirag Patel Source Genetic Health Queensland was removed from WNT1.
Source Expert list was added to WNT1.
Mode of inheritance for gene WNT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: WNT1 were changed from to Osteogenesis imperfecta, type XV; OMIM# 615220
Intellectual disability syndromic and non-syndromic v0.347 WNT5A Chirag Patel Source Genetic Health Queensland was removed from WNT5A.
Source Expert list was added to WNT5A.
Mode of inheritance for gene WNT5A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: WNT5A were changed from to Robinow syndrome, autosomal dominant 1; OMIM# 180700
Intellectual disability syndromic and non-syndromic v0.346 WNT5A Chirag Patel reviewed gene: WNT5A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Robinow syndrome, autosomal dominant 1, OMIM# 180700; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.346 WNT5A Chirag Patel Deleted their review
Intellectual disability syndromic and non-syndromic v0.346 WNT5A Chirag Patel reviewed gene: WNT5A: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: Robinow syndrome, autosomal dominant 1, OMIM# 180700; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.345 WRAP53 Chirag Patel Source Genetic Health Queensland was removed from WRAP53.
Source Expert list was added to WRAP53.
Phenotypes for gene: WRAP53 were changed from to Dyskeratosis congenita, autosomal recessive 3; OMIM# 613988
Intellectual disability syndromic and non-syndromic v0.343 WRAP53 Chirag Patel reviewed gene: WRAP53: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Dyskeratosis congenita, autosomal recessive 3, OMIM# 613988; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.341 HADHB Zornitza Stark reviewed gene: HADHB: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Trifunctional protein deficiency, MIM#609015; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.338 HADH Zornitza Stark reviewed gene: HADH: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: 3-hydroxyacyl-CoA dehydrogenase deficiency, MIM#231530, Hyperinsulinemic hypoglycemia, familial, 4, MIM#609975; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.337 H19 Zornitza Stark Phenotypes for gene: H19 were changed from to Beckwith-Wiedemann syndrome, MIM#130650; Silver-Russell syndrome, MIM#180860
Intellectual disability syndromic and non-syndromic v0.335 H19 Zornitza Stark reviewed gene: H19: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Beckwith-Wiedemann syndrome, MIM#130650, Silver-Russell syndrome, MIM#180860; Mode of inheritance: None
Intellectual disability syndromic and non-syndromic v0.332 GYS2 Zornitza Stark reviewed gene: GYS2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Glycogen storage disease 0, liver, MIM#240600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.330 GTF2IRD1 Zornitza Stark reviewed gene: GTF2IRD1: Rating: RED; Mode of pathogenicity: None; Publications: 31418010; Phenotypes: ; Mode of inheritance: None
Intellectual disability syndromic and non-syndromic v0.329 GTF2I Zornitza Stark reviewed gene: GTF2I: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Intellectual disability syndromic and non-syndromic v0.327 GSPT2 Zornitza Stark reviewed gene: GSPT2: Rating: RED; Mode of pathogenicity: None; Publications: 28414775; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Intellectual disability syndromic and non-syndromic v0.326 GRPR Zornitza Stark reviewed gene: GRPR: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Intellectual disability syndromic and non-syndromic v0.324 GPSM2 Zornitza Stark reviewed gene: GPSM2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Chudley-McCullough syndrome, MIM#604213; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.322 GPHN Zornitza Stark reviewed gene: GPHN: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Molybdenum cofactor deficiency C, MIM#615501; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.319 GOSR2 Zornitza Stark reviewed gene: GOSR2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Epilepsy, progressive myoclonic 6, MIM#614018; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.317 GORAB Zornitza Stark reviewed gene: GORAB: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Geroderma osteodysplasticum, MIM#231070; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.315 GNE Zornitza Stark reviewed gene: GNE: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Sialuria, MIM#269921; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.313 XPA Chirag Patel Source Genetic Health Queensland was removed from XPA.
Source Expert list was added to XPA.
Mode of inheritance for gene XPA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: XPA were changed from to Xeroderma pigmentosum, group A; OMIM# 278700
Intellectual disability syndromic and non-syndromic v0.312 XPA Chirag Patel reviewed gene: XPA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Xeroderma pigmentosum, group A, OMIM# 278700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.312 XYLT1 Chirag Patel Source Genetic Health Queensland was removed from XYLT1.
Source Expert list was added to XYLT1.
Mode of inheritance for gene XYLT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: XYLT1 were changed from to Desbuquois dysplasia 2; OMIM# 615777
Publications for gene XYLT1 were changed from PubMed: 24581741; 22711505; 23982343 to PubMed: 24581741; 22711505; 23982343
Intellectual disability syndromic and non-syndromic v0.311 XYLT1 Chirag Patel reviewed gene: XYLT1: Rating: GREEN; Mode of pathogenicity: None; Publications: PubMed: 24581741, 22711505, 23982343; Phenotypes: Desbuquois dysplasia 2, OMIM# 615777; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.310 ZC3H14 Chirag Patel Source Genetic Health Queensland was removed from ZC3H14.
Source Expert list was added to ZC3H14.
Mode of inheritance for gene ZC3H14 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ZC3H14 were changed from to Mental retardation, autosomal recessive 56; OMIM# 617125
Publications for gene ZC3H14 were changed from PubMed: 21734151 to PubMed: 21734151
Intellectual disability syndromic and non-syndromic v0.309 ZC3H14 Chirag Patel reviewed gene: ZC3H14: Rating: AMBER; Mode of pathogenicity: None; Publications: PubMed: 21734151; Phenotypes: Mental retardation, autosomal recessive 56, OMIM# 617125; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.308 ZCCHC12 Chirag Patel reviewed gene: ZCCHC12: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Intellectual disability syndromic and non-syndromic v0.307 ZDHHC15 Chirag Patel reviewed gene: ZDHHC15: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Intellectual disability syndromic and non-syndromic v0.306 ZFP57 Chirag Patel Source Genetic Health Queensland was removed from ZFP57.
Source Expert list was added to ZFP57.
Mode of inheritance for gene ZFP57 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Phenotypes for gene: ZFP57 were changed from to {Diabetes mellitus, transient neonatal, 1}; OMIM# 601410
Intellectual disability syndromic and non-syndromic v0.305 ZFP57 Chirag Patel reviewed gene: ZFP57: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: {Diabetes mellitus, transient neonatal, 1}, OMIM# 601410; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Intellectual disability syndromic and non-syndromic v0.304 ZMYM3 Chirag Patel reviewed gene: ZMYM3: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 24721225; Phenotypes: ; Mode of inheritance: None
Intellectual disability syndromic and non-syndromic v0.303 ZNF335 Chirag Patel Source Genetic Health Queensland was removed from ZNF335.
Source Expert list was added to ZNF335.
Mode of inheritance for gene ZNF335 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ZNF335 were changed from to Microcephaly 10, primary, autosomal recessive; OMIM #615095
Intellectual disability syndromic and non-syndromic v0.302 ZNF335 Chirag Patel reviewed gene: ZNF335: Rating: GREEN; Mode of pathogenicity: None; Publications: PubMed: 23178126, 27540107, 29652087; Phenotypes: Microcephaly 10, primary, autosomal recessive, OMIM #615095; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.302 ZNF41 Chirag Patel changed review comment from: Shoichet et al. (2003) described a female patient with severe nonsyndromic mental retardation and a de novo balanced translocation t(X;7)(p11.3;q11.21) in whom they cloned the DNA fragment that contained the X chromosomal and the autosomal breakpoint. In silico sequence analysis demonstrated that the ZNF41 gene was disrupted. Expression studies indicated that ZNF41 transcripts were absent in the patient cell line, suggesting that the mental disorder in this patient resulted from loss of functional ZNF41. Moreover, screening of a panel of patients with MRX led to the identification of 2 other ZNF41 mutations (314995.0001-314995.0002) that were not found in healthy control individuals. Based on their finding of the mutations in ZNF41 identified by Shoichet et al. (2003) in a total of 7 males in the NHLBI Exome Variant Server, and the additional finding of truncating ZNF41 variants in 1 male and 1 female in that database, Piton et al. (2013) classified the involvement of ZNF41 in mental retardation as highly questionable.; to: Shoichet et al. (2003) described a female patient with severe nonsyndromic mental retardation and a de novo balanced translocation t(X;7)(p11.3;q11.21) in whom they cloned the DNA fragment that contained the X chromosomal and the autosomal breakpoint. In silico sequence analysis demonstrated that the ZNF41 gene was disrupted. Expression studies indicated that ZNF41 transcripts were absent in the patient cell line, suggesting that the mental disorder in this patient resulted from loss of functional ZNF41. Screening of patients with mental retardation led to the identification of 2 other ZNF41 mutations that were not found in healthy control individuals. Based on their finding of the mutations in ZNF41 identified by Shoichet et al. (2003) in a total of 7 males in the NHLBI Exome Variant Server, and the additional finding of truncating ZNF41 variants in 1 male and 1 female in that database, Piton et al. (2013) classified the involvement of ZNF41 in mental retardation as highly questionable.
Intellectual disability syndromic and non-syndromic v0.302 ZNF41 Chirag Patel reviewed gene: ZNF41: Rating: RED; Mode of pathogenicity: None; Publications: PubMed: 14628291, 23871722; Phenotypes: ; Mode of inheritance: None
Intellectual disability syndromic and non-syndromic v0.300 ZNF423 Chirag Patel Source Genetic Health Queensland was removed from ZNF423.
Source Expert list was added to ZNF423.
Mode of inheritance for gene ZNF423 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: ZNF423 were changed from to Joubert syndrome 19, OMIM# 614844
Publications for gene ZNF423 were changed from PMID: 22863007 to PMID: 22863007
Intellectual disability syndromic and non-syndromic v0.299 ZNF423 Chirag Patel reviewed gene: ZNF423: Rating: AMBER; Mode of pathogenicity: None; Publications: PubMed: 22863007; Phenotypes: Joubert syndrome 19, OMIM# 614844; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.298 ZNF507 Chirag Patel reviewed gene: ZNF507: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Intellectual disability syndromic and non-syndromic v0.297 ZNF674 Chirag Patel Source Genetic Health Queensland was removed from ZNF674.
Source Expert list was added to ZNF674.
Mode of inheritance for gene ZNF674 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Intellectual disability syndromic and non-syndromic v0.296 ZNF674 Chirag Patel reviewed gene: ZNF674: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 16385466; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Intellectual disability syndromic and non-syndromic v0.295 ZNF804A Chirag Patel Source Genetic Health Queensland was removed from ZNF804A.
Source Expert list was added to ZNF804A.
Intellectual disability syndromic and non-syndromic v0.294 ZNF804A Chirag Patel reviewed gene: ZNF804A: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Intellectual disability syndromic and non-syndromic v0.293 ZNHIT6 Chirag Patel reviewed gene: ZNHIT6: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Intellectual disability syndromic and non-syndromic v0.291 GNAQ Zornitza Stark reviewed gene: GNAQ: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Sturge-Weber syndrome, somatic, mosaic, MIM#185300; Mode of inheritance: Other
Intellectual disability syndromic and non-syndromic v0.290 GNA14 Zornitza Stark reviewed gene: GNA14: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Intellectual disability syndromic and non-syndromic v0.287 GLUD1 Zornitza Stark reviewed gene: GLUD1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Hyperinsulinism-hyperammonemia syndrome, MIM#606762; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.287 GLIS3 Zornitza Stark Phenotypes for gene: GLIS3 were changed from to Diabetes mellitus, neonatal, with congenital hypothyroidism, MIM#610199
Intellectual disability syndromic and non-syndromic v0.284 GLIS3 Zornitza Stark reviewed gene: GLIS3: Rating: GREEN; Mode of pathogenicity: None; Publications: 21139041; Phenotypes: Diabetes mellitus, neonatal, with congenital hypothyroidism, MIM#610199; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.284 GJB1 Zornitza Stark Phenotypes for gene: GJB1 were changed from to Charcot-Marie-Tooth neuropathy, X-linked dominant, 1, MIM#302800
Intellectual disability syndromic and non-syndromic v0.282 GJB1 Zornitza Stark reviewed gene: GJB1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Charcot-Marie-Tooth neuropathy, X-linked dominant, 1, MIM#302800; Mode of inheritance: Other
Intellectual disability syndromic and non-syndromic v0.282 GJA1 Zornitza Stark Phenotypes for gene: GJA1 were changed from to Atrioventricular septal defect 3, MIM#600309; Craniometaphyseal dysplasia, autosomal recessive, MIM#218400; Erythrokeratodermia variabilis et progressiva 3, MIM#617525; Hypoplastic left heart syndrome 1, MIM#241550; Oculodentodigital dysplasia, MIM#164200; Oculodentodigital dysplasia, autosomal recessive, MIM#257850; Palmoplantar keratoderma with congenital alopecia, MIM#104100; Syndactyly, type III, MIM# 186100
Intellectual disability syndromic and non-syndromic v0.281 GJA1 Zornitza Stark Mode of inheritance for gene: GJA1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.279 GJA1 Zornitza Stark reviewed gene: GJA1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Atrioventricular septal defect 3, MIM#600309, Craniometaphyseal dysplasia, autosomal recessive, MIM#218400, Erythrokeratodermia variabilis et progressiva 3, MIM#617525, Hypoplastic left heart syndrome 1, MIM#241550, Oculodentodigital dysplasia, MIM#164200, Oculodentodigital dysplasia, autosomal recessive, MIM#257850, Palmoplantar keratoderma with congenital alopecia, MIM#104100, Syndactyly, type III, MIM# 186100; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.279 GHR Zornitza Stark Phenotypes for gene: GHR were changed from to Growth hormone insensitivity, partial, MIM#604271; Laron dwarfism, MIM#262500
Intellectual disability syndromic and non-syndromic v0.278 GHR Zornitza Stark Mode of inheritance for gene: GHR was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.276 GHR Zornitza Stark reviewed gene: GHR: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Growth hormone insensitivity, partial, MIM#604271, Laron dwarfism, MIM#262500; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.276 GCSH Zornitza Stark Phenotypes for gene: GCSH were changed from Glycine encephalopathy, MIM#605899 to Glycine encephalopathy, MIM#605899
Intellectual disability syndromic and non-syndromic v0.275 GCSH Zornitza Stark Phenotypes for gene: GCSH were changed from to Glycine encephalopathy, MIM#605899
Intellectual disability syndromic and non-syndromic v0.272 GCSH Zornitza Stark reviewed gene: GCSH: Rating: RED; Mode of pathogenicity: None; Publications: 1671321; Phenotypes: Glycine encephalopathy, MIM#605899; Mode of inheritance: None
Intellectual disability syndromic and non-syndromic v0.271 GCK Zornitza Stark Mode of inheritance for gene: GCK was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.269 GCK Zornitza Stark reviewed gene: GCK: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Diabetes mellitus, permanent neonatal 606176; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.266 GBE1 Zornitza Stark reviewed gene: GBE1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Glycogen storage disease IV, MIM#232500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.263 GBA2 Zornitza Stark reviewed gene: GBA2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Spastic paraplegia 46, autosomal recessive, MIM#614409; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.260 GATA6 Zornitza Stark reviewed gene: GATA6: Rating: GREEN; Mode of pathogenicity: None; Publications: 22158542; Phenotypes: Pancreatic agenesis and congenital heart defects, MIM#600001; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.258 GATA1 Zornitza Stark reviewed gene: GATA1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Thrombocytopenia, X-linked, with or without dyserythropoietic anaemia, MIM#300367, Thrombocytopenia with beta-thalassemia, X-linked, MIM#314050, Anemia, X-linked, with/without neutropenia and/or platelet abnormalities, MIM#300835; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Intellectual disability syndromic and non-syndromic v0.256 GALT Zornitza Stark reviewed gene: GALT: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Galactosemia, MIM#230400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.252 GAD1 Zornitza Stark reviewed gene: GAD1: Rating: RED; Mode of pathogenicity: None; Publications: 15571623; Phenotypes: Cerebral palsy, spastic quadriplegic, 1, MIM#603513; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.251 GABRG1 Zornitza Stark reviewed gene: GABRG1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Intellectual disability syndromic and non-syndromic v0.250 FUT8 Zornitza Stark gene: FUT8 was added
gene: FUT8 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert list
Mode of inheritance for gene: FUT8 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FUT8 were set to 29304374
Phenotypes for gene: FUT8 were set to Congenital disorder of glycosylation with defective fucosylation 1, MIM#618005
Review for gene: FUT8 was set to GREEN
Added comment: Three unrelated individuals reported with bi-allelic variants in this gene.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.249 FTL Zornitza Stark Phenotypes for gene: FTL were changed from to Neurodegeneration with brain iron accumulation 3, MIM#606159; Hyperferritinemia-cataract syndrome, MIM#600886; L-ferritin deficiency, dominant and recessive, MIM#615604
Intellectual disability syndromic and non-syndromic v0.248 FTL Zornitza Stark Mode of inheritance for gene: FTL was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.246 FTL Zornitza Stark reviewed gene: FTL: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodegeneration with brain iron accumulation 3, MIM#606159, Hyperferritinemia-cataract syndrome, MIM#600886, L-ferritin deficiency, dominant and recessive, MIM#615604; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.243 FRMPD4 Zornitza Stark reviewed gene: FRMPD4: Rating: GREEN; Mode of pathogenicity: None; Publications: 25644381, 29267967; Phenotypes: Mental retardation, X-linked 104, MIM#300983; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Intellectual disability syndromic and non-syndromic v0.241 FRAS1 Zornitza Stark reviewed gene: FRAS1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Fraser syndrome 1, MIM#219000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.241 FLVCR1 Zornitza Stark Phenotypes for gene: FLVCR1 were changed from to Ataxia, posterior column, with retinitis pigmentosa, MIM#609033
Intellectual disability syndromic and non-syndromic v0.238 FLVCR1 Zornitza Stark reviewed gene: FLVCR1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Ataxia, posterior column, with retinitis pigmentosa, MIM#609033; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.235 FLNB Zornitza Stark reviewed gene: FLNB: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Larsen syndrome, MIM#150250; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.235 FGF3 Zornitza Stark Phenotypes for gene: FGF3 were changed from to Deafness, congenital with inner ear agenesis, microtia, and microdontia, MIM#610706
Intellectual disability syndromic and non-syndromic v0.232 FGF3 Zornitza Stark reviewed gene: FGF3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Deafness, congenital with inner ear agenesis, microtia, and microdontia, MIM#610706; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.231 FDFT1 Zornitza Stark gene: FDFT1 was added
gene: FDFT1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert list
Mode of inheritance for gene: FDFT1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FDFT1 were set to 29909962
Phenotypes for gene: FDFT1 were set to Squalene synthase deficiency, MIM#618156
Review for gene: FDFT1 was set to GREEN
Added comment: Three individuals from two unrelated families reported; metabolic disorder with good level of biochemical evidence to support gene-disease association..
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.226 FBXO31 Zornitza Stark reviewed gene: FBXO31: Rating: RED; Mode of pathogenicity: None; Publications: 24623383; Phenotypes: Mental retardation, autosomal recessive 45, MIM#615979; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.223 FBN1 Zornitza Stark reviewed gene: FBN1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Marfan syndrome, MIM#154700, Geleophysic dysplasia 2, MIM#614185, Weill-Marchesani syndrome 2, dominant, MIM#608328; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.220 FBLN5 Zornitza Stark reviewed gene: FBLN5: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Cutis laxa, autosomal recessive, type IA, MIM#219100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.216 FASTKD2 Zornitza Stark reviewed gene: FASTKD2: Rating: AMBER; Mode of pathogenicity: None; Publications: 18771761, 28499982; Phenotypes: Mitochondrial complex IV deficiency, MIM#220110; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.213 FARS2 Zornitza Stark reviewed gene: FARS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 22499341, 22833457; Phenotypes: Combined oxidative phosphorylation deficiency 14, MIM#614946; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.211 FANCD2 Zornitza Stark reviewed gene: FANCD2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Fanconi anemia, complementation group D2, MIM# 227646; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.210 EDNRB Zornitza Stark Mode of inheritance for gene: EDNRB was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.204 FAAH2 Zornitza Stark reviewed gene: FAAH2: Rating: RED; Mode of pathogenicity: None; Publications: 25885783; Phenotypes: Neuropsychiatric disorder; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Intellectual disability syndromic and non-syndromic v0.201 FA2H Zornitza Stark reviewed gene: FA2H: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Spastic paraplegia 35, autosomal recessive, MIM#612319; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.199 EXT2 Zornitza Stark reviewed gene: EXT2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Seizures, scoliosis, and macrocephaly syndrome, MIM#616682; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.196 EXOSC8 Zornitza Stark reviewed gene: EXOSC8: Rating: GREEN; Mode of pathogenicity: None; Publications: 24989451, 29656927; Phenotypes: Pontocerebellar hypoplasia, type 1C, MIM#616081; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.195 EXOSC2 Zornitza Stark gene: EXOSC2 was added
gene: EXOSC2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert list
Mode of inheritance for gene: EXOSC2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EXOSC2 were set to 26843489; 31628467
Phenotypes for gene: EXOSC2 were set to Short stature, hearing loss, retinitis pigmentosa, and distinctive facies, MIM# 617763
Review for gene: EXOSC2 was set to GREEN
Added comment: Three individuals from two families, but founder mutation, some functional data.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.192 ETFDH Zornitza Stark reviewed gene: ETFDH: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Glutaric acidemia IIC, MIM#231680; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.190 ETFB Zornitza Stark reviewed gene: ETFB: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Glutaric acidemia IIB, MIM#231680; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.188 ETFA Zornitza Stark reviewed gene: ETFA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Glutaric acidemia IIA, MIM#231680; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.185 EVC2 Zornitza Stark reviewed gene: EVC2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Ellis-van Creveld syndrome, MIM#225500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.182 EVC Zornitza Stark reviewed gene: EVC: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Ellis-van Creveld syndrome, MIM#225500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.178 ERMARD Zornitza Stark reviewed gene: ERMARD: Rating: RED; Mode of pathogenicity: None; Publications: 24056535, 27087860; Phenotypes: Periventricular nodular heterotopia 6, MIM#615544; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.176 ERLIN2 Zornitza Stark reviewed gene: ERLIN2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Spastic paraplegia 18, autosomal recessive, MIM#611225; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.173 ERF Zornitza Stark reviewed gene: ERF: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Chitayat syndrome, MIM#617180, Craniosynostosis 4, MIM#600775; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.170 ERCC4 Zornitza Stark reviewed gene: ERCC4: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Xeroderma pigmentosum, group F, MIM#278760, XFE progeroid syndrome, MIM# 610965; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.167 EPM2A Zornitza Stark edited their review of gene: EPM2A: Changed rating: RED
Intellectual disability syndromic and non-syndromic v0.167 EPM2A Zornitza Stark reviewed gene: EPM2A: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: Epilepsy, progressive myoclonic 2A (Lafora), MIM#254780; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.163 EOMES Zornitza Stark reviewed gene: EOMES: Rating: RED; Mode of pathogenicity: None; Publications: 17353897; Phenotypes: Microcephaly; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.159 EOGT Zornitza Stark reviewed gene: EOGT: Rating: RED; Mode of pathogenicity: None; Publications: 31368252; Phenotypes: Adams-Oliver syndrome 4, MIM#615297; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.159 EIF2B5 Zornitza Stark Phenotypes for gene: EIF2B5 were changed from to Leukoencephalopathy with vanishing white matter, MIM#603896
Intellectual disability syndromic and non-syndromic v0.156 EIF2B5 Zornitza Stark reviewed gene: EIF2B5: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Leukoencephalopathy with vanishing white matter, MIM#603896; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.156 EIF2B4 Zornitza Stark Phenotypes for gene: EIF2B4 were changed from to Leukoencephalopathy with vanishing white matter, MIM#603896
Intellectual disability syndromic and non-syndromic v0.153 EIF2B4 Zornitza Stark reviewed gene: EIF2B4: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Leukoencephalopathy with vanishing white matter, MIM#603896; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.153 EIF2B3 Zornitza Stark Phenotypes for gene: EIF2B3 were changed from to Leukoencephalopathy with vanishing white matter, MIM#603896
Intellectual disability syndromic and non-syndromic v0.150 EIF2B3 Zornitza Stark reviewed gene: EIF2B3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Leukoencephalopathy with vanishing white matter, MIM#603896; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.150 EIF2B2 Zornitza Stark Phenotypes for gene: EIF2B2 were changed from to Leukoencephalopathy with vanishing white matter, MIM#603896
Intellectual disability syndromic and non-syndromic v0.147 EIF2B2 Zornitza Stark reviewed gene: EIF2B2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Leukoencephalopathy with vanishing white matter, MIM#603896; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.147 EIF2B1 Zornitza Stark Phenotypes for gene: EIF2B1 were changed from to Leukoencephalopathy with vanishing white matter, MIM#603896
Intellectual disability syndromic and non-syndromic v0.144 EIF2B1 Zornitza Stark reviewed gene: EIF2B1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Leukoencephalopathy with vanishing white matter, MIM#603896; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.140 EFNB2 Zornitza Stark reviewed gene: EFNB2: Rating: RED; Mode of pathogenicity: None; Publications: 29508392; Phenotypes: Intellectual disability and congenital abnormalities; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.140 EDNRB Zornitza Stark reviewed gene: EDNRB: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Waardenburg syndrome, type 4A, MIM#277580; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.137 EARS2 Zornitza Stark reviewed gene: EARS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 22492562; Phenotypes: Combined oxidative phosphorylation deficiency 12, MIM#614924; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.132 DYNC2H1 Zornitza Stark Phenotypes for gene: DYNC2H1 were changed from to Short-rib thoracic dysplasia 3 with or without polydactyly, MIM#613091
Intellectual disability syndromic and non-syndromic v0.129 DYNC2H1 Zornitza Stark reviewed gene: DYNC2H1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Short-rib thoracic dysplasia 3 with or without polydactyly, MIM#613091; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.127 DYM Zornitza Stark reviewed gene: DYM: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Dyggve-Melchior-Clausen disease, MIM#223800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.127 DUOXA2 Zornitza Stark Phenotypes for gene: DUOXA2 were changed from to Thyroid dyshormonogenesis 5, MIM#274900
Intellectual disability syndromic and non-syndromic v0.124 DUOXA2 Zornitza Stark reviewed gene: DUOXA2: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Thyroid dyshormonogenesis 5, MIM#274900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.121 DSE Zornitza Stark reviewed gene: DSE: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Ehlers-Danlos syndrome, musculocontractural type 2, MIM#615539; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.119 DPYS Zornitza Stark reviewed gene: DPYS: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Dihydropyrimidinuria, MIM#222748; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.117 DPP10 Zornitza Stark reviewed gene: DPP10: Rating: RED; Mode of pathogenicity: None; Publications: 28670437; Phenotypes: ; Mode of inheritance: None
Intellectual disability syndromic and non-syndromic v0.117 DPH1 Zornitza Stark Phenotypes for gene: DPH1 were changed from to Developmental delay with short stature, dysmorphic facial features, and sparse hair, MIM#616901
Intellectual disability syndromic and non-syndromic v0.114 DPH1 Zornitza Stark reviewed gene: DPH1: Rating: GREEN; Mode of pathogenicity: None; Publications: 25558065, 26220823; Phenotypes: Developmental delay with short stature, dysmorphic facial features, and sparse hair, MIM#616901; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.114 DOK7 Zornitza Stark Phenotypes for gene: DOK7 were changed from to Myasthenic syndrome, congenital, 10, MIM#254300
Intellectual disability syndromic and non-syndromic v0.111 DOK7 Zornitza Stark reviewed gene: DOK7: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Myasthenic syndrome, congenital, 10, MIM#254300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.109 DOCK6 Zornitza Stark reviewed gene: DOCK6: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Adams-Oliver syndrome 2, MIM#614219; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.108 DOCK4 Zornitza Stark reviewed gene: DOCK4: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Intellectual disability syndromic and non-syndromic v0.108 DNM1L Zornitza Stark Phenotypes for gene: DNM1L were changed from to Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1, MIM#614388
Intellectual disability syndromic and non-syndromic v0.107 DNM1L Zornitza Stark Mode of inheritance for gene: DNM1L was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.106 DNM1L Zornitza Stark reviewed gene: DNM1L: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1, MIM#614388; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.103 DNAJC6 Zornitza Stark reviewed gene: DNAJC6: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Parkinson disease 19a, juvenile-onset, MIM#615528; Mode of inheritance: None
Intellectual disability syndromic and non-syndromic v0.99 DMPK Zornitza Stark reviewed gene: DMPK: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Myotonic dystrophy 1, MIM#160900; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.98 DLK1 Zornitza Stark reviewed gene: DLK1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Intellectual disability syndromic and non-syndromic v0.97 DLGAP2 Zornitza Stark reviewed gene: DLGAP2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Intellectual disability syndromic and non-syndromic v0.96 DLG4 Zornitza Stark reviewed gene: DLG4: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Intellectual disability syndromic and non-syndromic v0.94 DLAT Zornitza Stark reviewed gene: DLAT: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Pyruvate dehydrogenase E2 deficiency, MIM#245348; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.91 DISP1 Zornitza Stark reviewed gene: DISP1: Rating: RED; Mode of pathogenicity: None; Publications: 19184110, 26748417, 23542665; Phenotypes: Holoprosencephaly; Mode of inheritance: Other
Intellectual disability syndromic and non-syndromic v0.89 DDX59 Zornitza Stark reviewed gene: DDX59: Rating: GREEN; Mode of pathogenicity: None; Publications: 28711741, 23972372, 29127725; Phenotypes: Orofaciodigital syndrome V, MIM#174300; Mode of inheritance: None
Intellectual disability syndromic and non-syndromic v0.88 DDR2 Zornitza Stark Mode of inheritance for gene: DDR2 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.86 DDR2 Zornitza Stark reviewed gene: DDR2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Warburg-Cinotti syndrome, MIM#618175, AD, Spondylometaepiphyseal dysplasia, short limb-hand type, MIM#271665, AR; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.77 CYP2U1 Zornitza Stark reviewed gene: CYP2U1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Spastic paraplegia 56, autosomal recessive, MIM#615030; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.76 CYFIP1 Zornitza Stark reviewed gene: CYFIP1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Intellectual disability syndromic and non-syndromic v0.76 CUX2 Zornitza Stark Phenotypes for gene: CUX2 were changed from to Epileptic encephalopathy, early infantile, 67, MIM#618141
Intellectual disability syndromic and non-syndromic v0.73 CUX2 Zornitza Stark reviewed gene: CUX2: Rating: GREEN; Mode of pathogenicity: None; Publications: 29630738, 29795476; Phenotypes: Epileptic encephalopathy, early infantile, 67, MIM#618141; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.70 CUBN Zornitza Stark reviewed gene: CUBN: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Megaloblastic anemia-1, Finnish type, MIM#261100, Proteinuria; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.69 CTU2 Zornitza Stark gene: CTU2 was added
gene: CTU2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert list
Mode of inheritance for gene: CTU2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CTU2 were set to 27480277; 26633546
Phenotypes for gene: CTU2 were set to Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome, MIM#618142
Review for gene: CTU2 was set to GREEN
Added comment: Multiple Saudi families reported with same homozygous variant; founder effect. Severe disorder of infancy.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.65 CTSF Zornitza Stark reviewed gene: CTSF: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Ceroid lipofuscinosis, neuronal, 13, Kufs type, MIM#615362; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.64 CTNNA2 Zornitza Stark gene: CTNNA2 was added
gene: CTNNA2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert list
Mode of inheritance for gene: CTNNA2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CTNNA2 were set to 30013181
Phenotypes for gene: CTNNA2 were set to Cortical dysplasia, complex, with other brain malformations 9, MIM#618174
Review for gene: CTNNA2 was set to GREEN
Added comment: 13 children from three unrelated families reported, severe ID as part of the phenotype.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.60 CRTAP Zornitza Stark reviewed gene: CRTAP: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Osteogenesis imperfecta, type VII, MIM#610682; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.57 CRLF1 Zornitza Stark reviewed gene: CRLF1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Cold-induced sweating syndrome 1, MIM#272430; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.54 CRKL Zornitza Stark reviewed gene: CRKL: Rating: RED; Mode of pathogenicity: None; Publications: 28121514, 25565927; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.52 CPA6 Zornitza Stark Mode of inheritance for gene: CPA6 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.50 CPA6 Zornitza Stark reviewed gene: CPA6: Rating: RED; Mode of pathogenicity: None; Publications: 25875328, 21922598, 23105115; Phenotypes: Epilepsy, familial temporal lobe, 5, MIM#614417, Febrile seizures, familial, 11, MIM#614418; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.47 CP Zornitza Stark reviewed gene: CP: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Aceruloplasminaemia, MIM#604290; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.47 COX7B Zornitza Stark Phenotypes for gene: COX7B were changed from to Linear skin defects with multiple congenital anomalies 2, MIM#300887
Intellectual disability syndromic and non-syndromic v0.44 COX7B Zornitza Stark reviewed gene: COX7B: Rating: AMBER; Mode of pathogenicity: None; Publications: 23122588; Phenotypes: Linear skin defects with multiple congenital anomalies 2, MIM#300887; Mode of inheritance: Other
Intellectual disability syndromic and non-syndromic v0.44 COX4I2 Zornitza Stark Phenotypes for gene: COX4I2 were changed from to Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis, MIM#612714
Intellectual disability syndromic and non-syndromic v0.41 COX4I2 Zornitza Stark reviewed gene: COX4I2: Rating: RED; Mode of pathogenicity: None; Publications: 19268275, 22730437; Phenotypes: Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis, MIM#612714; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.37 COX20 Zornitza Stark reviewed gene: COX20: Rating: RED; Mode of pathogenicity: None; Publications: 31079202, 30656193, 24202787; Phenotypes: Mitochondrial complex IV deficiency, MIM#220110; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.33 COX14 Zornitza Stark reviewed gene: COX14: Rating: AMBER; Mode of pathogenicity: None; Publications: 22243966; Phenotypes: Mitochondrial complex IV deficiency, MIM#220110; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.30 CORO1A Zornitza Stark reviewed gene: CORO1A: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Immunodeficiency 8, MIM#615401; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.30 COQ9 Zornitza Stark reviewed gene: COQ9: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Coenzyme Q10 deficiency, primary, 5, MIM#614654; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.28 COQ2 Zornitza Stark reviewed gene: COQ2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Coenzyme Q10 deficiency, primary, 1, MIM#607426; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.25 COL18A1 Zornitza Stark reviewed gene: COL18A1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Knobloch syndrome, type 1, MIM#267750; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.25 COG6 Zornitza Stark reviewed gene: COG6: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Congenital disorder of glycosylation, type Iil, MIM#614576; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.21 CNTNAP5 Zornitza Stark reviewed gene: CNTNAP5: Rating: RED; Mode of pathogenicity: None; Publications: 20346443; Phenotypes: Autism; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.21 CNTNAP1 Zornitza Stark Phenotypes for gene: CNTNAP1 were changed from to Hypomyelinating neuropathy, congenital, 3, MIM#618186; Lethal congenital contracture syndrome 7, MIM# 616286
Intellectual disability syndromic and non-syndromic v0.18 CNTNAP1 Zornitza Stark reviewed gene: CNTNAP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28374019, 29511323, 27668699; Phenotypes: Hypomyelinating neuropathy, congenital, 3, MIM#618186, Lethal congenital contracture syndrome 7, MIM# 616286; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.10 CNTN4 Zornitza Stark reviewed gene: CNTN4: Rating: RED; Mode of pathogenicity: None; Publications: 15106122, 18349135, 17932120; Phenotypes: Intellectual disability, SCA; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.10 CLIP2 Zornitza Stark reviewed gene: CLIP2: Rating: RED; Mode of pathogenicity: None; Publications: 22608712; Phenotypes: Intellectual disability; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.10 CLCNKB Zornitza Stark reviewed gene: CLCNKB: Rating: GREEN; Mode of pathogenicity: None; Publications: 18310267, 29254190; Phenotypes: Bartter syndrome, type 3, MIM#607364, Bartter syndrome, type 4b, digenic, MIM#613090; Mode of inheritance: Other
Intellectual disability syndromic and non-syndromic v0.10 CLCNKA Zornitza Stark reviewed gene: CLCNKA: Rating: GREEN; Mode of pathogenicity: None; Publications: 18310267, 29254190; Phenotypes: Bartter syndrome, type 4b, digenic, MIM#613090; Mode of inheritance: Other
Intellectual disability syndromic and non-syndromic v0.10 CLCN2 Zornitza Stark reviewed gene: CLCN2: Rating: AMBER; Mode of pathogenicity: None; Publications: 23707145; Phenotypes: Leukoencephalopathy with ataxia, MIM#615651; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.10 CISD2 Zornitza Stark reviewed gene: CISD2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Wolfram syndrome 2, MIM#604928; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.10 CHST14 Zornitza Stark reviewed gene: CHST14: Rating: AMBER; Mode of pathogenicity: None; Publications: 25703627; Phenotypes: Ehlers-Danlos syndrome, musculocontractural type 1, MIM#601776; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.10 CHD3 Zornitza Stark gene: CHD3 was added
gene: CHD3 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert list
Mode of inheritance for gene: CHD3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CHD3 were set to 30397230
Phenotypes for gene: CHD3 were set to Snijders Blok-Campeau syndrome, MIM#618205
Review for gene: CHD3 was set to GREEN
gene: CHD3 was marked as current diagnostic
Added comment: 35 individuals from 33 unrelated families reported with heterozygous variants in this gene.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.9 CHD1 Zornitza Stark gene: CHD1 was added
gene: CHD1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Literature
Mode of inheritance for gene: CHD1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CHD1 were set to 28866611
Phenotypes for gene: CHD1 were set to Pilarowski-Bjornsson syndrome, MIM#617682
Review for gene: CHD1 was set to GREEN
Added comment: Six unrelated individuals with heterozygous variants reported.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.8 CFHR3 Zornitza Stark reviewed gene: CFHR3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Hemolytic uremic syndrome, atypical, susceptibility to, MIM#235400; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.8 CFHR1 Zornitza Stark reviewed gene: CFHR1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Hemolytic uremic syndrome, atypical, susceptibility to, MIM#235400; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.8 CFH Zornitza Stark reviewed gene: CFH: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Complement factor H deficiency, MIM#609814; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.8 CEP89 Zornitza Stark reviewed gene: CEP89: Rating: AMBER; Mode of pathogenicity: None; Publications: 23575228; Phenotypes: Mitochondrial complex IV deficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.8 CEP63 Zornitza Stark reviewed gene: CEP63: Rating: AMBER; Mode of pathogenicity: None; Publications: 21983783, 26158450; Phenotypes: Seckel syndrome 6, MIM#614728; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.8 CDT1 Zornitza Stark reviewed gene: CDT1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Meier-Gorlin syndrome 4, MIM#613804; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.6 CDK6 Zornitza Stark reviewed gene: CDK6: Rating: AMBER; Mode of pathogenicity: None; Publications: 23918663; Phenotypes: Microcephaly 12, primary, autosomal recessive, MIM#616080; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.6 CDK16 Zornitza Stark reviewed gene: CDK16: Rating: AMBER; Mode of pathogenicity: None; Publications: 25644381; Phenotypes: Intellectual disability; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Intellectual disability syndromic and non-syndromic v0.6 CD96 Zornitza Stark reviewed gene: CD96: Rating: AMBER; Mode of pathogenicity: None; Publications: 17847009; Phenotypes: C syndrome, MIM#211750; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.6 CCDC8 Zornitza Stark reviewed gene: CCDC8: Rating: RED; Mode of pathogenicity: None; Publications: 21737058; Phenotypes: 3-M syndrome 3, MIM#614205; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.6 CCDC78 Zornitza Stark reviewed gene: CCDC78: Rating: AMBER; Mode of pathogenicity: None; Publications: 22818856; Phenotypes: Centronuclear myopathy 4, MIM#614807; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.6 CACNA1G Zornitza Stark reviewed gene: CACNA1G: Rating: GREEN; Mode of pathogenicity: None; Publications: 29878067; Phenotypes: Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits, MIM#618087; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.6 CACNA1E Zornitza Stark gene: CACNA1E was added
gene: CACNA1E was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert list
Mode of inheritance for gene: CACNA1E was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CACNA1E were set to 30343943
Phenotypes for gene: CACNA1E were set to Epileptic encephalopathy, early infantile, 69, MIM#618285
Review for gene: CACNA1E was set to GREEN
gene: CACNA1E was marked as current diagnostic
Added comment: At least 30 unrelated patients reported with heterozygous variants in this gene; primarily a seizure disorder, often with profound intellectual disability.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.5 CA8 Zornitza Stark reviewed gene: CA8: Rating: GREEN; Mode of pathogenicity: None; Publications: 21937992, 19461874; Phenotypes: Cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3, MIM#613227; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.5 CA2 Zornitza Stark reviewed gene: CA2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Osteopetrosis, autosomal recessive 3, with renal tubular acidosis, MIM#259730; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.5 C19orf12 Zornitza Stark reviewed gene: C19orf12: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodegeneration with brain iron accumulation 4, MIM#614298; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.5 BSND Zornitza Stark reviewed gene: BSND: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Bartter syndrome, type 4a, MIM#602522; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.5 BRAT1 Zornitza Stark reviewed gene: BRAT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 26483087, 26494257, 27282546; Phenotypes: Neurodevelopmental disorder with cerebellar atrophy and with or without seizures, MIM#618056; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.5 BMPER Zornitza Stark reviewed gene: BMPER: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Diaphanospondylodysostosis, MIM#608022; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.5 BICD2 Zornitza Stark reviewed gene: BICD2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant, MIM#615290; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.5 BDNF Zornitza Stark reviewed gene: BDNF: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Central hypoventilation syndrome, congenital, MIM#209880; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.5 BBIP1 Zornitza Stark reviewed gene: BBIP1: Rating: AMBER; Mode of pathogenicity: None; Publications: 24026985; Phenotypes: Bardet-Biedl syndrome 18, MIM#615995; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.5 B9D2 Zornitza Stark reviewed gene: B9D2: Rating: GREEN; Mode of pathogenicity: None; Publications: 26092869, 21763481; Phenotypes: Joubert syndrome 34, MIM#614175, Meckel syndrome 10, MIM#614175; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.5 B9D1 Zornitza Stark reviewed gene: B9D1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24886560, 21493627; Phenotypes: Joubert syndrome 27, MIM#617120, Meckel syndrome 9, MIM#614209; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.5 B4GALT1 Zornitza Stark reviewed gene: B4GALT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 11901181, 30653653, 21920538; Phenotypes: Congenital disorder of glycosylation, type Iid, MIM#607091; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.5 B3GAT3 Zornitza Stark reviewed gene: B3GAT3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects, MIM#245600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.5 B3GALT6 Zornitza Stark reviewed gene: B3GALT6: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Ehlers-Danlos syndrome, spondylodysplastic type, 2, MIM#615349, Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures, MIM#271640; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.5 AVPR2 Zornitza Stark reviewed gene: AVPR2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Diabetes insipidus, nephrogenic, MIM#304800; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Intellectual disability syndromic and non-syndromic v0.5 AVPR1A Zornitza Stark reviewed gene: AVPR1A: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Intellectual disability syndromic and non-syndromic v0.5 AVP Zornitza Stark reviewed gene: AVP: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Diabetes insipidus, neurohypophyseal, MIM#125700; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.5 ATXN10 Zornitza Stark reviewed gene: ATXN10: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Spinocerebellar ataxia 10, MIM#603516; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.5 ATP8A2 Zornitza Stark reviewed gene: ATP8A2: Rating: ; Mode of pathogenicity: None; Publications: 22892528, 31612321; Phenotypes: Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4, MIM#615268; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.5 ATP6AP1 Zornitza Stark gene: ATP6AP1 was added
gene: ATP6AP1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert list
Mode of inheritance for gene: ATP6AP1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: ATP6AP1 were set to 27231034
Phenotypes for gene: ATP6AP1 were set to Immunodeficiency 47, MIM#300972
Review for gene: ATP6AP1 was set to GREEN
gene: ATP6AP1 was marked as current diagnostic
Added comment: 11 males from 6 unrelated families with primarily an immunodeficiency disorder; six patients from 3 families who carried the same variant (E346K) had neurologic features, including seizures, mild intellectual disability, and behavioral abnormalities
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.4 ATP2B3 Zornitza Stark reviewed gene: ATP2B3: Rating: RED; Mode of pathogenicity: None; Publications: 22912398, 27653636; Phenotypes: Spinocerebellar ataxia, X-linked 1, MIM#302500; Mode of inheritance: None
Intellectual disability syndromic and non-syndromic v0.4 ATP2A2 Zornitza Stark reviewed gene: ATP2A2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Darier disease, MIM#124200; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.4 ATP1A3 Zornitza Stark reviewed gene: ATP1A3: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Alternating hemiplegia of childhood 2, MIM#614820; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.4 ATP10A Zornitza Stark reviewed gene: ATP10A: Rating: RED; Mode of pathogenicity: None; Publications: 31696658; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.3 ASTN1 Zornitza Stark gene: ASTN1 was added
gene: ASTN1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert list
Mode of inheritance for gene: ASTN1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ASTN1 were set to 29706646; 27431290; 26539891
Review for gene: ASTN1 was set to GREEN
gene: ASTN1 was marked as current diagnostic
Added comment: Three families reported as part of large cohorts albeit proposing multiple novel candidate genes with minimal detail and no functional validation.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.2 ASNS Zornitza Stark reviewed gene: ASNS: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Asparagine synthetase deficiency, MIM#615574; Mode of inheritance: None
Intellectual disability syndromic and non-syndromic v0.2 ASL Zornitza Stark reviewed gene: ASL: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Argininosuccinic aciduria, MIM#207900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2 ASH1L Zornitza Stark gene: ASH1L was added
gene: ASH1L was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert list
Mode of inheritance for gene: ASH1L was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ASH1L were set to 23033978; 25961944; 28394464; 28191889; 27824329
Phenotypes for gene: ASH1L were set to Mental retardation, autosomal dominant 52, MIM#617796
Review for gene: ASH1L was set to GREEN
gene: ASH1L was marked as current diagnostic
Added comment: Multiple cases with de novo variants and intellectual disability reported as part of large cohorts identifying multiple candidate genes.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.1 ARNT2 Zornitza Stark reviewed gene: ARNT2: Rating: AMBER; Mode of pathogenicity: None; Publications: 24022475; Phenotypes: Webb-Dattani syndrome 615926; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1 ARHGAP31 Zornitza Stark reviewed gene: ARHGAP31: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Adams-Oliver syndrome 1, MIM#100300; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1 APTX Zornitza Stark reviewed gene: APTX: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia, MIM#208920; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1 ANKH Zornitza Stark reviewed gene: ANKH: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Craniometaphyseal dysplasia, MIM#123000; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1 ALX3 Zornitza Stark reviewed gene: ALX3: Rating: GREEN; Mode of pathogenicity: None; Publications: 19409524; Phenotypes: Frontonasal dysplasia 1, MIM#136760; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1 ALX1 Zornitza Stark reviewed gene: ALX1: Rating: AMBER; Mode of pathogenicity: None; Publications: 27324866, 20451171, 23059813; Phenotypes: Frontonasal dysplasia 3, MIM#613456; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1 ALS2 Zornitza Stark reviewed gene: ALS2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Spastic paralysis, infantile onset ascending, MIM#607225; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1 ABAT Zornitza Stark edited their review of gene: ABAT: Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.0 ALG14 Zornitza Stark edited their review of gene: ALG14: Added comment: 5 individuals from unrelated families described in the literature: one with myasthenic syndrome, no report of ID; second with predominantly ID phenotype; and three more with a neurodegenerative phenotype.; Changed rating: GREEN; Changed publications: 30221345, 23404334, 28733338
Intellectual disability syndromic and non-syndromic v0.0 ALG14 Zornitza Stark reviewed gene: ALG14: Rating: AMBER; Mode of pathogenicity: None; Publications: 30221345, 23404334; Phenotypes: Myasthenic syndrome, congenital, 15, without tubular aggregates, MIM#616227, Intellectual disability; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.0 ALDOB Zornitza Stark reviewed gene: ALDOB: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Fructose intolerance, hereditary, MIM#229600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.0 ALDOA Zornitza Stark reviewed gene: ALDOA: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Glycogen storage disease XII, MIM#611881; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.0 AKR1C2 Zornitza Stark reviewed gene: AKR1C2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: 46XY sex reversal 8, MIM#614279; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.0 AHCY Zornitza Stark reviewed gene: AHCY: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase, MIM#613752; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.0 AGTR2 Zornitza Stark reviewed gene: AGTR2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Intellectual disability syndromic and non-syndromic v0.0 AGT Zornitza Stark reviewed gene: AGT: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Renal tubular dysgenesis, MIM#267430; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.0 AGPS Zornitza Stark reviewed gene: AGPS: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Rhizomelic chondrodysplasia punctata, type 3, MIM#600121; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.0 AGK Zornitza Stark reviewed gene: AGK: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Sengers syndrome, MIM#212350; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.0 AGGF1 Zornitza Stark reviewed gene: AGGF1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Intellectual disability syndromic and non-syndromic v0.0 AGA Zornitza Stark reviewed gene: AGA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Aspartylglucosaminuria, MIM#208400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.0 AFG3L2 Zornitza Stark reviewed gene: AFG3L2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Spastic ataxia 5, autosomal recessive, MIM#614487; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.0 ADD3 Zornitza Stark reviewed gene: ADD3: Rating: GREEN; Mode of pathogenicity: None; Publications: 29768408, 23836506; Phenotypes: Cerebral palsy, spastic quadriplegic, 3, MIM#617008; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.0 ADCY5 Zornitza Stark reviewed gene: ADCY5: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Dyskinesia, familial, with facial myokymia, MIM#606703; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.0 ADAT3 Zornitza Stark reviewed gene: ADAT3: Rating: GREEN; Mode of pathogenicity: None; Publications: 23620220, 26842963, 29796286; Phenotypes: Mental retardation, autosomal recessive 36, MIM#615286; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.0 ADAMTSL2 Zornitza Stark reviewed gene: ADAMTSL2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Geleophysic dysplasia 1, MIM#231050; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.0 ADAMTS10 Zornitza Stark reviewed gene: ADAMTS10: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Weill-Marchesani syndrome 1, recessive, MIM#277600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.0 ADA2 Zornitza Stark reviewed gene: ADA2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome, MIM#615688; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.0 ACTA1 Zornitza Stark reviewed gene: ACTA1: Rating: RED; Mode of pathogenicity: None; Publications: 21514153; Phenotypes: Myopathy, actin, congenital, with excess of thin myofilaments, MIM#161800, Nemaline myopathy 3, MIM#161800, Myopathy, actin, congenital, with cores, MIM#161800; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.0 ABCG5 Zornitza Stark reviewed gene: ABCG5: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Sitosterolemia 2, MIM#618666; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.0 ABCC6 Zornitza Stark reviewed gene: ABCC6: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Arterial calcification, generalized, of infancy, 2, MIM#614473, Pseudoxanthoma elasticum, MIM#264800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.0 ABAT Zornitza Stark reviewed gene: ABAT: Rating: ; Mode of pathogenicity: None; Publications: 10407778, 20052547, 27596361, 28411234,; Phenotypes: GABA-transaminase deficiency, MIM#613163; Mode of inheritance: None
Intellectual disability syndromic and non-syndromic v0.0 AAAS Zornitza Stark reviewed gene: AAAS: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Achalasia-addisonianism-alacrimia syndrome, MIM#231550; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Intellectual disability syndromic and non-syndromic v0.0 ZBTB11 Zornitza Stark gene: ZBTB11 was added
gene: ZBTB11 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: ZBTB11 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 YY1 Zornitza Stark gene: YY1 was added
gene: YY1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: YY1 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 YWHAG Zornitza Stark gene: YWHAG was added
gene: YWHAG was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: YWHAG was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 XRCC4 Zornitza Stark gene: XRCC4 was added
gene: XRCC4 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: XRCC4 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 XIST Zornitza Stark gene: XIST was added
gene: XIST was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: XIST was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 WDR73 Zornitza Stark gene: WDR73 was added
gene: WDR73 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: WDR73 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 WDR45B Zornitza Stark gene: WDR45B was added
gene: WDR45B was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: WDR45B was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 WDFY3 Zornitza Stark gene: WDFY3 was added
gene: WDFY3 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: WDFY3 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 WAC Zornitza Stark gene: WAC was added
gene: WAC was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: WAC was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 VARS2 Zornitza Stark gene: VARS2 was added
gene: VARS2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: VARS2 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 VAMP1 Zornitza Stark gene: VAMP1 was added
gene: VAMP1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: VAMP1 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 USP18 Zornitza Stark gene: USP18 was added
gene: USP18 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: USP18 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 UNC13A Zornitza Stark gene: UNC13A was added
gene: UNC13A was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: UNC13A was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 UBTF Zornitza Stark gene: UBTF was added
gene: UBTF was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: UBTF was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 UBR4 Zornitza Stark gene: UBR4 was added
gene: UBR4 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: UBR4 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 UBA5 Zornitza Stark gene: UBA5 was added
gene: UBA5 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: UBA5 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 TXNL4A Zornitza Stark gene: TXNL4A was added
gene: TXNL4A was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: TXNL4A was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 TUBG1 Zornitza Stark gene: TUBG1 was added
gene: TUBG1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: TUBG1 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 TUBB2A Zornitza Stark gene: TUBB2A was added
gene: TUBB2A was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: TUBB2A was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 TUBB Zornitza Stark gene: TUBB was added
gene: TUBB was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: TUBB was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 TRMT1 Zornitza Stark gene: TRMT1 was added
gene: TRMT1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: TRMT1 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 TRIT1 Zornitza Stark gene: TRIT1 was added
gene: TRIT1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: TRIT1 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 TRIP13 Zornitza Stark gene: TRIP13 was added
gene: TRIP13 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: TRIP13 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 TRIM37 Zornitza Stark gene: TRIM37 was added
gene: TRIM37 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: TRIM37 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 TRAPPC6B Zornitza Stark gene: TRAPPC6B was added
gene: TRAPPC6B was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: TRAPPC6B was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 TRAPPC6A Zornitza Stark gene: TRAPPC6A was added
gene: TRAPPC6A was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: TRAPPC6A was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 TRAPPC12 Zornitza Stark gene: TRAPPC12 was added
gene: TRAPPC12 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: TRAPPC12 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 TRAK1 Zornitza Stark gene: TRAK1 was added
gene: TRAK1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: TRAK1 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 TOE1 Zornitza Stark gene: TOE1 was added
gene: TOE1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: TOE1 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 TNRC6B Zornitza Stark gene: TNRC6B was added
gene: TNRC6B was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: TNRC6B was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 TMTC3 Zornitza Stark gene: TMTC3 was added
gene: TMTC3 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: TMTC3 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 TMLHE Zornitza Stark gene: TMLHE was added
gene: TMLHE was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: TMLHE was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 TMEM260 Zornitza Stark gene: TMEM260 was added
gene: TMEM260 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: TMEM260 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 TLK2 Zornitza Stark gene: TLK2 was added
gene: TLK2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: TLK2 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 THRA Zornitza Stark gene: THRA was added
gene: THRA was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: THRA was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 THAP1 Zornitza Stark gene: THAP1 was added
gene: THAP1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: THAP1 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 TCF20 Zornitza Stark gene: TCF20 was added
gene: TCF20 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: TCF20 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 TBR1 Zornitza Stark gene: TBR1 was added
gene: TBR1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: TBR1 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 TBCK Zornitza Stark gene: TBCK was added
gene: TBCK was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: TBCK was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 TBCD Zornitza Stark gene: TBCD was added
gene: TBCD was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: TBCD was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 TBC1D23 Zornitza Stark gene: TBC1D23 was added
gene: TBC1D23 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: TBC1D23 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 TAZ Zornitza Stark gene: TAZ was added
gene: TAZ was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: TAZ was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 TAOK1 Zornitza Stark gene: TAOK1 was added
gene: TAOK1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: TAOK1 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 TANGO2 Zornitza Stark gene: TANGO2 was added
gene: TANGO2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: TANGO2 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 TAF8 Zornitza Stark gene: TAF8 was added
gene: TAF8 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: TAF8 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 TAF6 Zornitza Stark gene: TAF6 was added
gene: TAF6 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: TAF6 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 TAF13 Zornitza Stark gene: TAF13 was added
gene: TAF13 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: TAF13 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 SURF1 Zornitza Stark gene: SURF1 was added
gene: SURF1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: SURF1 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 STX1B Zornitza Stark gene: STX1B was added
gene: STX1B was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: STX1B was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 STAG1 Zornitza Stark gene: STAG1 was added
gene: STAG1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: STAG1 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 SPRTN Zornitza Stark gene: SPRTN was added
gene: SPRTN was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: SPRTN was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 SPG11 Zornitza Stark gene: SPG11 was added
gene: SPG11 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: SPG11 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 SPECC1L Zornitza Stark gene: SPECC1L was added
gene: SPECC1L was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: SPECC1L was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 SPART Zornitza Stark gene: SPART was added
gene: SPART was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: SPART was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 SOX9 Zornitza Stark gene: SOX9 was added
gene: SOX9 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: SOX9 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 SON Zornitza Stark gene: SON was added
gene: SON was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: SON was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 SNX14 Zornitza Stark gene: SNX14 was added
gene: SNX14 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: SNX14 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 SNRPA Zornitza Stark gene: SNRPA was added
gene: SNRPA was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: SNRPA was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 SNORD118 Zornitza Stark gene: SNORD118 was added
gene: SNORD118 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: SNORD118 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 SMPD4 Zornitza Stark gene: SMPD4 was added
gene: SMPD4 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: SMPD4 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 SLC9A7 Zornitza Stark gene: SLC9A7 was added
gene: SLC9A7 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: SLC9A7 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 SLC6A9 Zornitza Stark gene: SLC6A9 was added
gene: SLC6A9 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: SLC6A9 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 SLC6A1 Zornitza Stark gene: SLC6A1 was added
gene: SLC6A1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: SLC6A1 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 SLC46A1 Zornitza Stark gene: SLC46A1 was added
gene: SLC46A1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: SLC46A1 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 SLC45A1 Zornitza Stark gene: SLC45A1 was added
gene: SLC45A1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: SLC45A1 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 SLC39A8 Zornitza Stark gene: SLC39A8 was added
gene: SLC39A8 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: SLC39A8 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 SLC39A14 Zornitza Stark gene: SLC39A14 was added
gene: SLC39A14 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: SLC39A14 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 SLC25A24 Zornitza Stark gene: SLC25A24 was added
gene: SLC25A24 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: SLC25A24 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 SLC25A20 Zornitza Stark gene: SLC25A20 was added
gene: SLC25A20 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: SLC25A20 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 SLC12A5 Zornitza Stark gene: SLC12A5 was added
gene: SLC12A5 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: SLC12A5 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 SIN3A Zornitza Stark gene: SIN3A was added
gene: SIN3A was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: SIN3A was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 SIK1 Zornitza Stark gene: SIK1 was added
gene: SIK1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: SIK1 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 SHANK1 Zornitza Stark gene: SHANK1 was added
gene: SHANK1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: SHANK1 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 SGPL1 Zornitza Stark gene: SGPL1 was added
gene: SGPL1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: SGPL1 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 SETD1B Zornitza Stark gene: SETD1B was added
gene: SETD1B was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: SETD1B was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 SET Zornitza Stark gene: SET was added
gene: SET was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: SET was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 SCN3A Zornitza Stark gene: SCN3A was added
gene: SCN3A was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: SCN3A was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 SAMD9 Zornitza Stark gene: SAMD9 was added
gene: SAMD9 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: SAMD9 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 RTEL1 Zornitza Stark gene: RTEL1 was added
gene: RTEL1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: RTEL1 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 RPS23 Zornitza Stark gene: RPS23 was added
gene: RPS23 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: RPS23 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 RNF135 Zornitza Stark gene: RNF135 was added
gene: RNF135 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: RNF135 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 RNF125 Zornitza Stark gene: RNF125 was added
gene: RNF125 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: RNF125 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 RIMS1 Zornitza Stark gene: RIMS1 was added
gene: RIMS1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: RIMS1 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 RHEB Zornitza Stark gene: RHEB was added
gene: RHEB was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: RHEB was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 RERE Zornitza Stark gene: RERE was added
gene: RERE was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: RERE was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 RAC3 Zornitza Stark gene: RAC3 was added
gene: RAC3 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: RAC3 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 RAC1 Zornitza Stark gene: RAC1 was added
gene: RAC1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: RAC1 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 RAB11B Zornitza Stark gene: RAB11B was added
gene: RAB11B was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: RAB11B was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 QRICH1 Zornitza Stark gene: QRICH1 was added
gene: QRICH1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: QRICH1 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 PYCR2 Zornitza Stark gene: PYCR2 was added
gene: PYCR2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: PYCR2 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 PUM1 Zornitza Stark gene: PUM1 was added
gene: PUM1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: PUM1 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 PUF60 Zornitza Stark gene: PUF60 was added
gene: PUF60 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: PUF60 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 PTPN23 Zornitza Stark gene: PTPN23 was added
gene: PTPN23 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: PTPN23 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 PTF1A Zornitza Stark gene: PTF1A was added
gene: PTF1A was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: PTF1A was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 PSMD12 Zornitza Stark gene: PSMD12 was added
gene: PSMD12 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: PSMD12 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 PRUNE1 Zornitza Stark gene: PRUNE1 was added
gene: PRUNE1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: PRUNE1 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 PRRT2 Zornitza Stark gene: PRRT2 was added
gene: PRRT2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: PRRT2 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 PRMT7 Zornitza Stark gene: PRMT7 was added
gene: PRMT7 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: PRMT7 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 PRKD1 Zornitza Stark gene: PRKD1 was added
gene: PRKD1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: PRKD1 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 PPP3CA Zornitza Stark gene: PPP3CA was added
gene: PPP3CA was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: PPP3CA was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 PPP1R15B Zornitza Stark gene: PPP1R15B was added
gene: PPP1R15B was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: PPP1R15B was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 PPP1CB Zornitza Stark gene: PPP1CB was added
gene: PPP1CB was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: PPP1CB was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 POLG Zornitza Stark gene: POLG was added
gene: POLG was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: POLG was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 POGZ Zornitza Stark gene: POGZ was added
gene: POGZ was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: POGZ was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 PLPBP Zornitza Stark gene: PLPBP was added
gene: PLPBP was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: PLPBP was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 PLK4 Zornitza Stark gene: PLK4 was added
gene: PLK4 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: PLK4 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 PLAA Zornitza Stark gene: PLAA was added
gene: PLAA was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: PLAA was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 PIGC Zornitza Stark gene: PIGC was added
gene: PIGC was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: PIGC was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 PGM3 Zornitza Stark gene: PGM3 was added
gene: PGM3 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: PGM3 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 PEX26 Zornitza Stark gene: PEX26 was added
gene: PEX26 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: PEX26 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 PEX14 Zornitza Stark gene: PEX14 was added
gene: PEX14 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: PEX14 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 PEX1 Zornitza Stark gene: PEX1 was added
gene: PEX1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: PEX1 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 PCLO Zornitza Stark gene: PCLO was added
gene: PCLO was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: PCLO was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 PCGF2 Zornitza Stark gene: PCGF2 was added
gene: PCGF2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: PCGF2 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 PCDH12 Zornitza Stark gene: PCDH12 was added
gene: PCDH12 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: PCDH12 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 PCDH10 Zornitza Stark gene: PCDH10 was added
gene: PCDH10 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: PCDH10 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 PBX1 Zornitza Stark gene: PBX1 was added
gene: PBX1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: PBX1 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 PAX8 Zornitza Stark gene: PAX8 was added
gene: PAX8 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: PAX8 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 PAX7 Zornitza Stark gene: PAX7 was added
gene: PAX7 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: PAX7 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 PARN Zornitza Stark gene: PARN was added
gene: PARN was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: PARN was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 PACS2 Zornitza Stark gene: PACS2 was added
gene: PACS2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: PACS2 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 OTUD6B Zornitza Stark gene: OTUD6B was added
gene: OTUD6B was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: OTUD6B was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 ORC4 Zornitza Stark gene: ORC4 was added
gene: ORC4 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: ORC4 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 NUP188 Zornitza Stark gene: NUP188 was added
gene: NUP188 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: NUP188 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 NSD2 Zornitza Stark gene: NSD2 was added
gene: NSD2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: NSD2 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 NRXN2 Zornitza Stark gene: NRXN2 was added
gene: NRXN2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: NRXN2 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 NR4A2 Zornitza Stark gene: NR4A2 was added
gene: NR4A2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: NR4A2 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 NEXMIF Zornitza Stark gene: NEXMIF was added
gene: NEXMIF was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: NEXMIF was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 NCKAP1 Zornitza Stark gene: NCKAP1 was added
gene: NCKAP1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: NCKAP1 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 NANS Zornitza Stark gene: NANS was added
gene: NANS was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: NANS was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 NACC1 Zornitza Stark gene: NACC1 was added
gene: NACC1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: NACC1 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 NAA15 Zornitza Stark gene: NAA15 was added
gene: NAA15 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: NAA15 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 MYMK Zornitza Stark gene: MYMK was added
gene: MYMK was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: MYMK was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 MTOR Zornitza Stark gene: MTOR was added
gene: MTOR was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: MTOR was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 MSMO1 Zornitza Stark gene: MSMO1 was added
gene: MSMO1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: MSMO1 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 MSL3 Zornitza Stark gene: MSL3 was added
gene: MSL3 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: MSL3 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 MICU1 Zornitza Stark gene: MICU1 was added
gene: MICU1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: MICU1 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 MFF Zornitza Stark gene: MFF was added
gene: MFF was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: MFF was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 MED25 Zornitza Stark gene: MED25 was added
gene: MED25 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: MED25 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 MED13 Zornitza Stark gene: MED13 was added
gene: MED13 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: MED13 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 MDH2 Zornitza Stark gene: MDH2 was added
gene: MDH2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: MDH2 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 MBOAT7 Zornitza Stark gene: MBOAT7 was added
gene: MBOAT7 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: MBOAT7 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 MAP1B Zornitza Stark gene: MAP1B was added
gene: MAP1B was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: MAP1B was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 MAF Zornitza Stark gene: MAF was added
gene: MAF was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: MAF was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 MADD Zornitza Stark gene: MADD was added
gene: MADD was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: MADD was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 MAB21L2 Zornitza Stark gene: MAB21L2 was added
gene: MAB21L2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: MAB21L2 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 LONP1 Zornitza Stark gene: LONP1 was added
gene: LONP1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: LONP1 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 LNPK Zornitza Stark gene: LNPK was added
gene: LNPK was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: LNPK was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 LNP1 Zornitza Stark gene: LNP1 was added
gene: LNP1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: LNP1 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 LINS1 Zornitza Stark gene: LINS1 was added
gene: LINS1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: LINS1 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 LGI4 Zornitza Stark gene: LGI4 was added
gene: LGI4 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: LGI4 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 LARS2 Zornitza Stark gene: LARS2 was added
gene: LARS2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: LARS2 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 LARGE1 Zornitza Stark gene: LARGE1 was added
gene: LARGE1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: LARGE1 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 KNL1 Zornitza Stark gene: KNL1 was added
gene: KNL1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: KNL1 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 KMT2E Zornitza Stark gene: KMT2E was added
gene: KMT2E was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: KMT2E was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 KLHL7 Zornitza Stark gene: KLHL7 was added
gene: KLHL7 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: KLHL7 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 KLF7 Zornitza Stark gene: KLF7 was added
gene: KLF7 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: KLF7 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 KIF5C Zornitza Stark gene: KIF5C was added
gene: KIF5C was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: KIF5C was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 KIF4A Zornitza Stark gene: KIF4A was added
gene: KIF4A was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: KIF4A was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 KIF16B Zornitza Stark gene: KIF16B was added
gene: KIF16B was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: KIF16B was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 KIF14 Zornitza Stark gene: KIF14 was added
gene: KIF14 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: KIF14 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 KIDINS220 Zornitza Stark gene: KIDINS220 was added
gene: KIDINS220 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: KIDINS220 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 KIAA1109 Zornitza Stark gene: KIAA1109 was added
gene: KIAA1109 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: KIAA1109 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 KIAA0586 Zornitza Stark gene: KIAA0586 was added
gene: KIAA0586 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: KIAA0586 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 KDM5B Zornitza Stark gene: KDM5B was added
gene: KDM5B was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: KDM5B was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 KDM1A Zornitza Stark gene: KDM1A was added
gene: KDM1A was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: KDM1A was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 KCTD3 Zornitza Stark gene: KCTD3 was added
gene: KCTD3 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: KCTD3 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 KCNQ5 Zornitza Stark gene: KCNQ5 was added
gene: KCNQ5 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: KCNQ5 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 KCNQ3 Zornitza Stark gene: KCNQ3 was added
gene: KCNQ3 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: KCNQ3 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 KCNMA1 Zornitza Stark gene: KCNMA1 was added
gene: KCNMA1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: KCNMA1 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 KCNJ6 Zornitza Stark gene: KCNJ6 was added
gene: KCNJ6 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: KCNJ6 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 KCNH1 Zornitza Stark gene: KCNH1 was added
gene: KCNH1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: KCNH1 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 KCNC1 Zornitza Stark gene: KCNC1 was added
gene: KCNC1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: KCNC1 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 KCNA2 Zornitza Stark gene: KCNA2 was added
gene: KCNA2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: KCNA2 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 KAT5 Zornitza Stark gene: KAT5 was added
gene: KAT5 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: KAT5 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 ITPA Zornitza Stark gene: ITPA was added
gene: ITPA was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: ITPA was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 ISCA2 Zornitza Stark gene: ISCA2 was added
gene: ISCA2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: ISCA2 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 IRF2BPL Zornitza Stark gene: IRF2BPL was added
gene: IRF2BPL was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: IRF2BPL was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 INTS8 Zornitza Stark gene: INTS8 was added
gene: INTS8 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: INTS8 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 INTS1 Zornitza Stark gene: INTS1 was added
gene: INTS1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: INTS1 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 INPP5K Zornitza Stark gene: INPP5K was added
gene: INPP5K was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: INPP5K was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 IARS Zornitza Stark gene: IARS was added
gene: IARS was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: IARS was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 HNRNPK Zornitza Stark gene: HNRNPK was added
gene: HNRNPK was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: HNRNPK was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 HNRNPH2 Zornitza Stark gene: HNRNPH2 was added
gene: HNRNPH2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: HNRNPH2 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 HIST1H4C Zornitza Stark gene: HIST1H4C was added
gene: HIST1H4C was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: HIST1H4C was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 HIST1H1E Zornitza Stark gene: HIST1H1E was added
gene: HIST1H1E was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: HIST1H1E was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 HERC1 Zornitza Stark gene: HERC1 was added
gene: HERC1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: HERC1 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 HARS2 Zornitza Stark gene: HARS2 was added
gene: HARS2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: HARS2 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 HADH Zornitza Stark gene: HADH was added
gene: HADH was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: HADH was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 HACE1 Zornitza Stark gene: HACE1 was added
gene: HACE1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: HACE1 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 H3F3B Zornitza Stark gene: H3F3B was added
gene: H3F3B was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: H3F3B was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 H3F3A Zornitza Stark gene: H3F3A was added
gene: H3F3A was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: H3F3A was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 GTPBP3 Zornitza Stark gene: GTPBP3 was added
gene: GTPBP3 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: GTPBP3 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 GTPBP2 Zornitza Stark gene: GTPBP2 was added
gene: GTPBP2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: GTPBP2 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 GTF3C3 Zornitza Stark gene: GTF3C3 was added
gene: GTF3C3 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: GTF3C3 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 GTF2H5 Zornitza Stark gene: GTF2H5 was added
gene: GTF2H5 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: GTF2H5 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 GRID2 Zornitza Stark gene: GRID2 was added
gene: GRID2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: GRID2 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 GRIA4 Zornitza Stark gene: GRIA4 was added
gene: GRIA4 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: GRIA4 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 GPT2 Zornitza Stark gene: GPT2 was added
gene: GPT2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: GPT2 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 GPC3 Zornitza Stark gene: GPC3 was added
gene: GPC3 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: GPC3 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 GPAA1 Zornitza Stark gene: GPAA1 was added
gene: GPAA1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: GPAA1 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 GNAI1 Zornitza Stark gene: GNAI1 was added
gene: GNAI1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: GNAI1 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 GLIS3 Zornitza Stark gene: GLIS3 was added
gene: GLIS3 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: GLIS3 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 GEMIN4 Zornitza Stark gene: GEMIN4 was added
gene: GEMIN4 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: GEMIN4 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 GCH1 Zornitza Stark gene: GCH1 was added
gene: GCH1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: GCH1 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 GALC Zornitza Stark gene: GALC was added
gene: GALC was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: GALC was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 GABRB2 Zornitza Stark gene: GABRB2 was added
gene: GABRB2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: GABRB2 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 FZD3 Zornitza Stark gene: FZD3 was added
gene: FZD3 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: FZD3 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 FTCD Zornitza Stark gene: FTCD was added
gene: FTCD was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: FTCD was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 FLVCR2 Zornitza Stark gene: FLVCR2 was added
gene: FLVCR2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: FLVCR2 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 FIBP Zornitza Stark gene: FIBP was added
gene: FIBP was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: FIBP was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 FGF12 Zornitza Stark gene: FGF12 was added
gene: FGF12 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: FGF12 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 FDXR Zornitza Stark gene: FDXR was added
gene: FDXR was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: FDXR was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 FBXO11 Zornitza Stark gene: FBXO11 was added
gene: FBXO11 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: FBXO11 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 FAR1 Zornitza Stark gene: FAR1 was added
gene: FAR1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: FAR1 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 EXTL3 Zornitza Stark gene: EXTL3 was added
gene: EXTL3 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: EXTL3 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 ETHE1 Zornitza Stark gene: ETHE1 was added
gene: ETHE1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: ETHE1 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 ETFDH Zornitza Stark gene: ETFDH was added
gene: ETFDH was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: ETFDH was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 ETFB Zornitza Stark gene: ETFB was added
gene: ETFB was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: ETFB was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 ETFA Zornitza Stark gene: ETFA was added
gene: ETFA was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: ETFA was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 EP300 Zornitza Stark gene: EP300 was added
gene: EP300 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: EP300 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 EML1 Zornitza Stark gene: EML1 was added
gene: EML1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: EML1 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 ELP2 Zornitza Stark gene: ELP2 was added
gene: ELP2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: ELP2 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 EFNB2 Zornitza Stark gene: EFNB2 was added
gene: EFNB2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: EFNB2 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 EED Zornitza Stark gene: EED was added
gene: EED was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: EED was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 EDNRB Zornitza Stark gene: EDNRB was added
gene: EDNRB was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: EDNRB was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 EBF3 Zornitza Stark gene: EBF3 was added
gene: EBF3 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: EBF3 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 DSCAM Zornitza Stark gene: DSCAM was added
gene: DSCAM was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: DSCAM was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 DPM2 Zornitza Stark gene: DPM2 was added
gene: DPM2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: DPM2 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 DPF2 Zornitza Stark gene: DPF2 was added
gene: DPF2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: DPF2 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 DOLK Zornitza Stark gene: DOLK was added
gene: DOLK was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: DOLK was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 DOCK8 Zornitza Stark gene: DOCK8 was added
gene: DOCK8 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: DOCK8 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 DOCK3 Zornitza Stark gene: DOCK3 was added
gene: DOCK3 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: DOCK3 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 DNM1 Zornitza Stark gene: DNM1 was added
gene: DNM1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: DNM1 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 DNAJC3 Zornitza Stark gene: DNAJC3 was added
gene: DNAJC3 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: DNAJC3 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 DMD Zornitza Stark gene: DMD was added
gene: DMD was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: DMD was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 DLG4 Zornitza Stark gene: DLG4 was added
gene: DLG4 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: DLG4 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 DIAPH1 Zornitza Stark gene: DIAPH1 was added
gene: DIAPH1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: DIAPH1 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 DHX30 Zornitza Stark gene: DHX30 was added
gene: DHX30 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: DHX30 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 CWC27 Zornitza Stark gene: CWC27 was added
gene: CWC27 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: CWC27 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 CUX2 Zornitza Stark gene: CUX2 was added
gene: CUX2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: CUX2 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 CSNK2B Zornitza Stark gene: CSNK2B was added
gene: CSNK2B was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: CSNK2B was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 CSNK2A1 Zornitza Stark gene: CSNK2A1 was added
gene: CSNK2A1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: CSNK2A1 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 CRB2 Zornitza Stark gene: CRB2 was added
gene: CRB2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: CRB2 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 CP Zornitza Stark gene: CP was added
gene: CP was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: CP was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 COQ8A Zornitza Stark gene: COQ8A was added
gene: COQ8A was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: COQ8A was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 COQ5 Zornitza Stark gene: COQ5 was added
gene: COQ5 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: COQ5 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 COQ4 Zornitza Stark gene: COQ4 was added
gene: COQ4 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: COQ4 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 COLEC10 Zornitza Stark gene: COLEC10 was added
gene: COLEC10 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: COLEC10 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 COA3 Zornitza Stark gene: COA3 was added
gene: COA3 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: COA3 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 CNTNAP1 Zornitza Stark gene: CNTNAP1 was added
gene: CNTNAP1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: CNTNAP1 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 CNTN3 Zornitza Stark gene: CNTN3 was added
gene: CNTN3 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: CNTN3 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 CNOT3 Zornitza Stark gene: CNOT3 was added
gene: CNOT3 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: CNOT3 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 CLTC Zornitza Stark gene: CLTC was added
gene: CLTC was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: CLTC was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 CLPP Zornitza Stark gene: CLPP was added
gene: CLPP was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: CLPP was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 CLPB Zornitza Stark gene: CLPB was added
gene: CLPB was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: CLPB was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 CLP1 Zornitza Stark gene: CLP1 was added
gene: CLP1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: CLP1 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 CKAP2L Zornitza Stark gene: CKAP2L was added
gene: CKAP2L was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: CKAP2L was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 CIT Zornitza Stark gene: CIT was added
gene: CIT was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: CIT was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 CISD2 Zornitza Stark gene: CISD2 was added
gene: CISD2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: CISD2 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 CIC Zornitza Stark gene: CIC was added
gene: CIC was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: CIC was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 CHD4 Zornitza Stark gene: CHD4 was added
gene: CHD4 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: CHD4 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 CEP83 Zornitza Stark gene: CEP83 was added
gene: CEP83 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: CEP83 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 CENPF Zornitza Stark gene: CENPF was added
gene: CENPF was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: CENPF was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 CDT1 Zornitza Stark gene: CDT1 was added
gene: CDT1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: CDT1 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 CDK5R1 Zornitza Stark gene: CDK5R1 was added
gene: CDK5R1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: CDK5R1 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 CDK13 Zornitza Stark gene: CDK13 was added
gene: CDK13 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: CDK13 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 CDK10 Zornitza Stark gene: CDK10 was added
gene: CDK10 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: CDK10 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 CDH11 Zornitza Stark gene: CDH11 was added
gene: CDH11 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: CDH11 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 CCDC88A Zornitza Stark gene: CCDC88A was added
gene: CCDC88A was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: CCDC88A was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 CCDC8 Zornitza Stark gene: CCDC8 was added
gene: CCDC8 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: CCDC8 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 CAMK2B Zornitza Stark gene: CAMK2B was added
gene: CAMK2B was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: CAMK2B was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 CAMK2A Zornitza Stark gene: CAMK2A was added
gene: CAMK2A was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: CAMK2A was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 C3orf58 Zornitza Stark gene: C3orf58 was added
gene: C3orf58 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: C3orf58 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 C2CD3 Zornitza Stark gene: C2CD3 was added
gene: C2CD3 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: C2CD3 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 C12orf4 Zornitza Stark gene: C12orf4 was added
gene: C12orf4 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: C12orf4 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 BRPF1 Zornitza Stark gene: BRPF1 was added
gene: BRPF1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: BRPF1 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 BRF1 Zornitza Stark gene: BRF1 was added
gene: BRF1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: BRF1 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 BRD4 Zornitza Stark gene: BRD4 was added
gene: BRD4 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: BRD4 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 BRAT1 Zornitza Stark gene: BRAT1 was added
gene: BRAT1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: BRAT1 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 BPTF Zornitza Stark gene: BPTF was added
gene: BPTF was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: BPTF was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 BCKDK Zornitza Stark gene: BCKDK was added
gene: BCKDK was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: BCKDK was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 B4GALNT1 Zornitza Stark gene: B4GALNT1 was added
gene: B4GALNT1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: B4GALNT1 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 B3GLCT Zornitza Stark gene: B3GLCT was added
gene: B3GLCT was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: B3GLCT was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 ATP6V1B2 Zornitza Stark gene: ATP6V1B2 was added
gene: ATP6V1B2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: ATP6V1B2 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 ATM Zornitza Stark gene: ATM was added
gene: ATM was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: ATM was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 ATAD3A Zornitza Stark gene: ATAD3A was added
gene: ATAD3A was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: ATAD3A was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 ASXL2 Zornitza Stark gene: ASXL2 was added
gene: ASXL2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: ASXL2 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 ASMT Zornitza Stark gene: ASMT was added
gene: ASMT was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: ASMT was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 ARV1 Zornitza Stark gene: ARV1 was added
gene: ARV1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: ARV1 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 ARSB Zornitza Stark gene: ARSB was added
gene: ARSB was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: ARSB was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 ARSA Zornitza Stark gene: ARSA was added
gene: ARSA was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: ARSA was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 ARMC9 Zornitza Stark gene: ARMC9 was added
gene: ARMC9 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: ARMC9 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 ARL13B Zornitza Stark gene: ARL13B was added
gene: ARL13B was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: ARL13B was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 ARID2 Zornitza Stark gene: ARID2 was added
gene: ARID2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: ARID2 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 ARCN1 Zornitza Stark gene: ARCN1 was added
gene: ARCN1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: ARCN1 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 APTX Zornitza Stark gene: APTX was added
gene: APTX was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: APTX was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 APOPT1 Zornitza Stark gene: APOPT1 was added
gene: APOPT1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: APOPT1 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 AP3B2 Zornitza Stark gene: AP3B2 was added
gene: AP3B2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: AP3B2 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 ANKRD11 Zornitza Stark gene: ANKRD11 was added
gene: ANKRD11 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: ANKRD11 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 ANKH Zornitza Stark gene: ANKH was added
gene: ANKH was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: ANKH was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 ALS2 Zornitza Stark gene: ALS2 was added
gene: ALS2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: ALS2 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 ALMS1 Zornitza Stark gene: ALMS1 was added
gene: ALMS1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: ALMS1 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 ALG9 Zornitza Stark gene: ALG9 was added
gene: ALG9 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: ALG9 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 ALG8 Zornitza Stark gene: ALG8 was added
gene: ALG8 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: ALG8 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 ALG14 Zornitza Stark gene: ALG14 was added
gene: ALG14 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: ALG14 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 AKAP6 Zornitza Stark gene: AKAP6 was added
gene: AKAP6 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: AKAP6 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 AHDC1 Zornitza Stark gene: AHDC1 was added
gene: AHDC1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: AHDC1 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 AGPS Zornitza Stark gene: AGPS was added
gene: AGPS was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: AGPS was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 AFG3L2 Zornitza Stark gene: AFG3L2 was added
gene: AFG3L2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: AFG3L2 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 AFF4 Zornitza Stark gene: AFF4 was added
gene: AFF4 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: AFF4 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 AFF3 Zornitza Stark gene: AFF3 was added
gene: AFF3 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: AFF3 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 ADGRG1 Zornitza Stark gene: ADGRG1 was added
gene: ADGRG1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: ADGRG1 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 ACTL6A Zornitza Stark gene: ACTL6A was added
gene: ACTL6A was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: ACTL6A was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 ACAD9 Zornitza Stark gene: ACAD9 was added
gene: ACAD9 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: ACAD9 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 AARS Zornitza Stark gene: AARS was added
gene: AARS was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: AARS was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 AAAS Zornitza Stark gene: AAAS was added
gene: AAAS was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: AAAS was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 ZSWIM6 Zornitza Stark gene: ZSWIM6 was added
gene: ZSWIM6 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: ZSWIM6 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 ZNHIT6 Zornitza Stark gene: ZNHIT6 was added
gene: ZNHIT6 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: ZNHIT6 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 ZNF81 Zornitza Stark gene: ZNF81 was added
gene: ZNF81 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: ZNF81 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 ZNF804A Zornitza Stark gene: ZNF804A was added
gene: ZNF804A was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: ZNF804A was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 ZNF711 Zornitza Stark gene: ZNF711 was added
gene: ZNF711 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: ZNF711 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 ZNF674 Zornitza Stark gene: ZNF674 was added
gene: ZNF674 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: ZNF674 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 ZNF507 Zornitza Stark gene: ZNF507 was added
gene: ZNF507 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: ZNF507 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 ZNF423 Zornitza Stark gene: ZNF423 was added
gene: ZNF423 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: ZNF423 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 ZNF41 Zornitza Stark gene: ZNF41 was added
gene: ZNF41 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: ZNF41 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 ZNF335 Zornitza Stark gene: ZNF335 was added
gene: ZNF335 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: ZNF335 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 ZMYND11 Zornitza Stark gene: ZMYND11 was added
gene: ZMYND11 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: ZMYND11 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 ZMYM3 Zornitza Stark gene: ZMYM3 was added
gene: ZMYM3 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: ZMYM3 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 ZIC2 Zornitza Stark gene: ZIC2 was added
gene: ZIC2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: ZIC2 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 ZFYVE26 Zornitza Stark gene: ZFYVE26 was added
gene: ZFYVE26 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: ZFYVE26 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 ZFP57 Zornitza Stark gene: ZFP57 was added
gene: ZFP57 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: ZFP57 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 ZEB2 Zornitza Stark gene: ZEB2 was added
gene: ZEB2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: ZEB2 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 ZDHHC9 Zornitza Stark gene: ZDHHC9 was added
gene: ZDHHC9 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: ZDHHC9 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 ZDHHC15 Zornitza Stark gene: ZDHHC15 was added
gene: ZDHHC15 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: ZDHHC15 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 ZCCHC12 Zornitza Stark gene: ZCCHC12 was added
gene: ZCCHC12 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: ZCCHC12 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 ZC4H2 Zornitza Stark gene: ZC4H2 was added
gene: ZC4H2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: ZC4H2 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 ZC3H14 Zornitza Stark gene: ZC3H14 was added
gene: ZC3H14 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: ZC3H14 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 ZBTB24 Zornitza Stark gene: ZBTB24 was added
gene: ZBTB24 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: ZBTB24 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 ZBTB20 Zornitza Stark gene: ZBTB20 was added
gene: ZBTB20 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: ZBTB20 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 ZBTB18 Zornitza Stark gene: ZBTB18 was added
gene: ZBTB18 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: ZBTB18 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 ZBTB16 Zornitza Stark gene: ZBTB16 was added
gene: ZBTB16 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: ZBTB16 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 YAP1 Zornitza Stark gene: YAP1 was added
gene: YAP1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: YAP1 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 XYLT1 Zornitza Stark gene: XYLT1 was added
gene: XYLT1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: XYLT1 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 XPNPEP3 Zornitza Stark gene: XPNPEP3 was added
gene: XPNPEP3 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: XPNPEP3 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 XPA Zornitza Stark gene: XPA was added
gene: XPA was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: XPA was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 WWOX Zornitza Stark gene: WWOX was added
gene: WWOX was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: WWOX was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 WRAP53 Zornitza Stark gene: WRAP53 was added
gene: WRAP53 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: WRAP53 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 WNT5A Zornitza Stark gene: WNT5A was added
gene: WNT5A was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: WNT5A was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 WNT1 Zornitza Stark gene: WNT1 was added
gene: WNT1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: WNT1 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 WFS1 Zornitza Stark gene: WFS1 was added
gene: WFS1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: WFS1 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 WDR81 Zornitza Stark gene: WDR81 was added
gene: WDR81 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: WDR81 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 WDR62 Zornitza Stark gene: WDR62 was added
gene: WDR62 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: WDR62 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 WDR45 Zornitza Stark gene: WDR45 was added
gene: WDR45 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: WDR45 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 WDR34 Zornitza Stark gene: WDR34 was added
gene: WDR34 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: WDR34 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 WDR26 Zornitza Stark gene: WDR26 was added
gene: WDR26 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: WDR26 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 WDR19 Zornitza Stark gene: WDR19 was added
gene: WDR19 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: WDR19 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 WDR13 Zornitza Stark gene: WDR13 was added
gene: WDR13 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: WDR13 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 WDR11 Zornitza Stark gene: WDR11 was added
gene: WDR11 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: WDR11 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 WDPCP Zornitza Stark gene: WDPCP was added
gene: WDPCP was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: WDPCP was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 VRK1 Zornitza Stark gene: VRK1 was added
gene: VRK1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: VRK1 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 VPS53 Zornitza Stark gene: VPS53 was added
gene: VPS53 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: VPS53 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 VPS45 Zornitza Stark gene: VPS45 was added
gene: VPS45 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: VPS45 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 VPS37A Zornitza Stark gene: VPS37A was added
gene: VPS37A was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: VPS37A was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 VPS33B Zornitza Stark gene: VPS33B was added
gene: VPS33B was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: VPS33B was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 VPS13B Zornitza Stark gene: VPS13B was added
gene: VPS13B was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: VPS13B was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 VLDLR Zornitza Stark gene: VLDLR was added
gene: VLDLR was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: VLDLR was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 VIPAS39 Zornitza Stark gene: VIPAS39 was added
gene: VIPAS39 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: VIPAS39 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 VANGL1 Zornitza Stark gene: VANGL1 was added
gene: VANGL1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: VANGL1 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 USP9X Zornitza Stark gene: USP9X was added
gene: USP9X was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: USP9X was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 UROC1 Zornitza Stark gene: UROC1 was added
gene: UROC1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: UROC1 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 UQCRQ Zornitza Stark gene: UQCRQ was added
gene: UQCRQ was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: UQCRQ was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 UQCRC2 Zornitza Stark gene: UQCRC2 was added
gene: UQCRC2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: UQCRC2 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 UQCRB Zornitza Stark gene: UQCRB was added
gene: UQCRB was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: UQCRB was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 UQCC2 Zornitza Stark gene: UQCC2 was added
gene: UQCC2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: UQCC2 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 UPF3B Zornitza Stark gene: UPF3B was added
gene: UPF3B was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: UPF3B was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 UPB1 Zornitza Stark gene: UPB1 was added
gene: UPB1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: UPB1 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 UNC80 Zornitza Stark gene: UNC80 was added
gene: UNC80 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: UNC80 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 UNC13D Zornitza Stark gene: UNC13D was added
gene: UNC13D was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: UNC13D was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 UMPS Zornitza Stark gene: UMPS was added
gene: UMPS was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: UMPS was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 UGT1A1 Zornitza Stark gene: UGT1A1 was added
gene: UGT1A1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: UGT1A1 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 UCHL1 Zornitza Stark gene: UCHL1 was added
gene: UCHL1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: UCHL1 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 UBR1 Zornitza Stark gene: UBR1 was added
gene: UBR1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: UBR1 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 UBE3B Zornitza Stark gene: UBE3B was added
gene: UBE3B was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: UBE3B was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 UBE3A Zornitza Stark gene: UBE3A was added
gene: UBE3A was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: UBE3A was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 UBE2A Zornitza Stark gene: UBE2A was added
gene: UBE2A was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: UBE2A was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 TWIST1 Zornitza Stark gene: TWIST1 was added
gene: TWIST1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: TWIST1 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 TUSC3 Zornitza Stark gene: TUSC3 was added
gene: TUSC3 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: TUSC3 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 TUFM Zornitza Stark gene: TUFM was added
gene: TUFM was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: TUFM was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 TUBGCP6 Zornitza Stark gene: TUBGCP6 was added
gene: TUBGCP6 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: TUBGCP6 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 TUBB4A Zornitza Stark gene: TUBB4A was added
gene: TUBB4A was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: TUBB4A was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 TUBB3 Zornitza Stark gene: TUBB3 was added
gene: TUBB3 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: TUBB3 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 TUBB2B Zornitza Stark gene: TUBB2B was added
gene: TUBB2B was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: TUBB2B was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 TUBA8 Zornitza Stark gene: TUBA8 was added
gene: TUBA8 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: TUBA8 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 TUBA1A Zornitza Stark gene: TUBA1A was added
gene: TUBA1A was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: TUBA1A was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 TTR Zornitza Stark gene: TTR was added
gene: TTR was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: TTR was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 TTI2 Zornitza Stark gene: TTI2 was added
gene: TTI2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: TTI2 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 TTC8 Zornitza Stark gene: TTC8 was added
gene: TTC8 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: TTC8 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 TTC37 Zornitza Stark gene: TTC37 was added
gene: TTC37 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: TTC37 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 TTC21B Zornitza Stark gene: TTC21B was added
gene: TTC21B was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: TTC21B was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 TTC19 Zornitza Stark gene: TTC19 was added
gene: TTC19 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: TTC19 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 TSPAN7 Zornitza Stark gene: TSPAN7 was added
gene: TSPAN7 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: TSPAN7 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 TSHR Zornitza Stark gene: TSHR was added
gene: TSHR was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: TSHR was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 TSHB Zornitza Stark gene: TSHB was added
gene: TSHB was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: TSHB was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 TSFM Zornitza Stark gene: TSFM was added
gene: TSFM was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: TSFM was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 TSEN54 Zornitza Stark gene: TSEN54 was added
gene: TSEN54 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: TSEN54 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 TSEN34 Zornitza Stark gene: TSEN34 was added
gene: TSEN34 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: TSEN34 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 TSEN2 Zornitza Stark gene: TSEN2 was added
gene: TSEN2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: TSEN2 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 TSC2 Zornitza Stark gene: TSC2 was added
gene: TSC2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: TSC2 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 TSC1 Zornitza Stark gene: TSC1 was added
gene: TSC1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: TSC1 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 TRNT1 Zornitza Stark gene: TRNT1 was added
gene: TRNT1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: TRNT1 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 TRMT10A Zornitza Stark gene: TRMT10A was added
gene: TRMT10A was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: TRMT10A was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 TRIP12 Zornitza Stark gene: TRIP12 was added
gene: TRIP12 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: TRIP12 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 TRIO Zornitza Stark gene: TRIO was added
gene: TRIO was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: TRIO was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 TRIM32 Zornitza Stark gene: TRIM32 was added
gene: TRIM32 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: TRIM32 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 TRHR Zornitza Stark gene: TRHR was added
gene: TRHR was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: TRHR was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 TREX1 Zornitza Stark gene: TREX1 was added
gene: TREX1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: TREX1 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 TREM2 Zornitza Stark gene: TREM2 was added
gene: TREM2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: TREM2 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 TRAPPC9 Zornitza Stark gene: TRAPPC9 was added
gene: TRAPPC9 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: TRAPPC9 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 TRAPPC11 Zornitza Stark gene: TRAPPC11 was added
gene: TRAPPC11 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: TRAPPC11 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 TPP1 Zornitza Stark gene: TPP1 was added
gene: TPP1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: TPP1 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 TPK1 Zornitza Stark gene: TPK1 was added
gene: TPK1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: TPK1 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 TPH2 Zornitza Stark gene: TPH2 was added
gene: TPH2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: TPH2 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 TP63 Zornitza Stark gene: TP63 was added
gene: TP63 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: TP63 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 TNIK Zornitza Stark gene: TNIK was added
gene: TNIK was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: TNIK was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 TMEM70 Zornitza Stark gene: TMEM70 was added
gene: TMEM70 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: TMEM70 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 TMEM67 Zornitza Stark gene: TMEM67 was added
gene: TMEM67 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: TMEM67 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 TMEM5 Zornitza Stark gene: TMEM5 was added
gene: TMEM5 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: TMEM5 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 TMEM240 Zornitza Stark gene: TMEM240 was added
gene: TMEM240 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: TMEM240 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 TMEM237 Zornitza Stark gene: TMEM237 was added
gene: TMEM237 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: TMEM237 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 TMEM231 Zornitza Stark gene: TMEM231 was added
gene: TMEM231 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: TMEM231 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 TMEM216 Zornitza Stark gene: TMEM216 was added
gene: TMEM216 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: TMEM216 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 TMEM165 Zornitza Stark gene: TMEM165 was added
gene: TMEM165 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: TMEM165 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 TMCO1 Zornitza Stark gene: TMCO1 was added
gene: TMCO1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: TMCO1 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 TKT Zornitza Stark gene: TKT was added
gene: TKT was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: TKT was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 TINF2 Zornitza Stark gene: TINF2 was added
gene: TINF2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: TINF2 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 TIMM8A Zornitza Stark gene: TIMM8A was added
gene: TIMM8A was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: TIMM8A was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 THRB Zornitza Stark gene: THRB was added
gene: THRB was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: THRB was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 THOC6 Zornitza Stark gene: THOC6 was added
gene: THOC6 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: THOC6 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 THOC2 Zornitza Stark gene: THOC2 was added
gene: THOC2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: THOC2 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 TH Zornitza Stark gene: TH was added
gene: TH was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: TH was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 TGIF1 Zornitza Stark gene: TGIF1 was added
gene: TGIF1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: TGIF1 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 TGFBR2 Zornitza Stark gene: TGFBR2 was added
gene: TGFBR2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: TGFBR2 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 TGFBR1 Zornitza Stark gene: TGFBR1 was added
gene: TGFBR1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: TGFBR1 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 TG Zornitza Stark gene: TG was added
gene: TG was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: TG was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 TFG Zornitza Stark gene: TFG was added
gene: TFG was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: TFG was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 TFAP2B Zornitza Stark gene: TFAP2B was added
gene: TFAP2B was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: TFAP2B was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 TFAP2A Zornitza Stark gene: TFAP2A was added
gene: TFAP2A was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: TFAP2A was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 TERT Zornitza Stark gene: TERT was added
gene: TERT was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: TERT was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 TECR Zornitza Stark gene: TECR was added
gene: TECR was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: TECR was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 TECPR2 Zornitza Stark gene: TECPR2 was added
gene: TECPR2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: TECPR2 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 TDP2 Zornitza Stark gene: TDP2 was added
gene: TDP2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: TDP2 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 TDGF1 Zornitza Stark gene: TDGF1 was added
gene: TDGF1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: TDGF1 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 TCTN3 Zornitza Stark gene: TCTN3 was added
gene: TCTN3 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: TCTN3 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 TCTN2 Zornitza Stark gene: TCTN2 was added
gene: TCTN2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: TCTN2 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 TCN2 Zornitza Stark gene: TCN2 was added
gene: TCN2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: TCN2 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 TCF4 Zornitza Stark gene: TCF4 was added
gene: TCF4 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: TCF4 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 TBX1 Zornitza Stark gene: TBX1 was added
gene: TBX1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: TBX1 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 TBL1XR1 Zornitza Stark gene: TBL1XR1 was added
gene: TBL1XR1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: TBL1XR1 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 TBCE Zornitza Stark gene: TBCE was added
gene: TBCE was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: TBCE was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 TBC1D7 Zornitza Stark gene: TBC1D7 was added
gene: TBC1D7 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: TBC1D7 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 TBC1D24 Zornitza Stark gene: TBC1D24 was added
gene: TBC1D24 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: TBC1D24 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 TBC1D20 Zornitza Stark gene: TBC1D20 was added
gene: TBC1D20 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: TBC1D20 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 TAT Zornitza Stark gene: TAT was added
gene: TAT was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: TAT was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 TAF2 Zornitza Stark gene: TAF2 was added
gene: TAF2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: TAF2 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 TAF1 Zornitza Stark gene: TAF1 was added
gene: TAF1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: TAF1 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 TACO1 Zornitza Stark gene: TACO1 was added
gene: TACO1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: TACO1 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 SZT2 Zornitza Stark gene: SZT2 was added
gene: SZT2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: SZT2 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 SYT14 Zornitza Stark gene: SYT14 was added
gene: SYT14 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: SYT14 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 SYP Zornitza Stark gene: SYP was added
gene: SYP was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: SYP was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 SYNJ1 Zornitza Stark gene: SYNJ1 was added
gene: SYNJ1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: SYNJ1 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 SYNGAP1 Zornitza Stark gene: SYNGAP1 was added
gene: SYNGAP1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: SYNGAP1 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 SYN1 Zornitza Stark gene: SYN1 was added
gene: SYN1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: SYN1 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 SUOX Zornitza Stark gene: SUOX was added
gene: SUOX was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: SUOX was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 SUMF1 Zornitza Stark gene: SUMF1 was added
gene: SUMF1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: SUMF1 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 SUCLG1 Zornitza Stark gene: SUCLG1 was added
gene: SUCLG1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: SUCLG1 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 SUCLA2 Zornitza Stark gene: SUCLA2 was added
gene: SUCLA2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: SUCLA2 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 STXBP1 Zornitza Stark gene: STXBP1 was added
gene: STXBP1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: STXBP1 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 STX11 Zornitza Stark gene: STX11 was added
gene: STX11 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: STX11 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 STT3B Zornitza Stark gene: STT3B was added
gene: STT3B was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: STT3B was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 STT3A Zornitza Stark gene: STT3A was added
gene: STT3A was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: STT3A was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 STRA6 Zornitza Stark gene: STRA6 was added
gene: STRA6 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: STRA6 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 STK3 Zornitza Stark gene: STK3 was added
gene: STK3 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: STK3 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 STIL Zornitza Stark gene: STIL was added
gene: STIL was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: STIL was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 STAT5B Zornitza Stark gene: STAT5B was added
gene: STAT5B was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: STAT5B was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 STAMBP Zornitza Stark gene: STAMBP was added
gene: STAMBP was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: STAMBP was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 STAC3 Zornitza Stark gene: STAC3 was added
gene: STAC3 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: STAC3 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 ST7 Zornitza Stark gene: ST7 was added
gene: ST7 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: ST7 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 ST3GAL5 Zornitza Stark gene: ST3GAL5 was added
gene: ST3GAL5 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: ST3GAL5 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 ST3GAL3 Zornitza Stark gene: ST3GAL3 was added
gene: ST3GAL3 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: ST3GAL3 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 SSR4 Zornitza Stark gene: SSR4 was added
gene: SSR4 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: SSR4 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 SRPX2 Zornitza Stark gene: SRPX2 was added
gene: SRPX2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: SRPX2 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 SRD5A3 Zornitza Stark gene: SRD5A3 was added
gene: SRD5A3 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: SRD5A3 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 SRCAP Zornitza Stark gene: SRCAP was added
gene: SRCAP was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: SRCAP was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 SPTLC1 Zornitza Stark gene: SPTLC1 was added
gene: SPTLC1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: SPTLC1 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 SPTBN2 Zornitza Stark gene: SPTBN2 was added
gene: SPTBN2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: SPTBN2 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 SPTAN1 Zornitza Stark gene: SPTAN1 was added
gene: SPTAN1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: SPTAN1 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 SPRED1 Zornitza Stark gene: SPRED1 was added
gene: SPRED1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: SPRED1 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 SPR Zornitza Stark gene: SPR was added
gene: SPR was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: SPR was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 SPINK5 Zornitza Stark gene: SPINK5 was added
gene: SPINK5 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: SPINK5 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 SPG7 Zornitza Stark gene: SPG7 was added
gene: SPG7 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: SPG7 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 SPEG Zornitza Stark gene: SPEG was added
gene: SPEG was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: SPEG was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 SPATA5 Zornitza Stark gene: SPATA5 was added
gene: SPATA5 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: SPATA5 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 SPAST Zornitza Stark gene: SPAST was added
gene: SPAST was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: SPAST was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 SP7 Zornitza Stark gene: SP7 was added
gene: SP7 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: SP7 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 SOX5 Zornitza Stark gene: SOX5 was added
gene: SOX5 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: SOX5 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 SOX3 Zornitza Stark gene: SOX3 was added
gene: SOX3 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: SOX3 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 SOX2 Zornitza Stark gene: SOX2 was added
gene: SOX2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: SOX2 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 SOX11 Zornitza Stark gene: SOX11 was added
gene: SOX11 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: SOX11 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 SOX10 Zornitza Stark gene: SOX10 was added
gene: SOX10 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: SOX10 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 SOST Zornitza Stark gene: SOST was added
gene: SOST was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: SOST was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 SOS1 Zornitza Stark gene: SOS1 was added
gene: SOS1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: SOS1 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 SOBP Zornitza Stark gene: SOBP was added
gene: SOBP was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: SOBP was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 SNRPN Zornitza Stark gene: SNRPN was added
gene: SNRPN was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: SNRPN was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 SNRPB Zornitza Stark gene: SNRPB was added
gene: SNRPB was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: SNRPB was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 SNIP1 Zornitza Stark gene: SNIP1 was added
gene: SNIP1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: SNIP1 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 SNAP29 Zornitza Stark gene: SNAP29 was added
gene: SNAP29 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: SNAP29 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 SMS Zornitza Stark gene: SMS was added
gene: SMS was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: SMS was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 SMPD1 Zornitza Stark gene: SMPD1 was added
gene: SMPD1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: SMPD1 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 SMOC1 Zornitza Stark gene: SMOC1 was added
gene: SMOC1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: SMOC1 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 SMG6 Zornitza Stark gene: SMG6 was added
gene: SMG6 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: SMG6 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 SMCHD1 Zornitza Stark gene: SMCHD1 was added
gene: SMCHD1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: SMCHD1 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 SMC3 Zornitza Stark gene: SMC3 was added
gene: SMC3 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: SMC3 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 SMC1A Zornitza Stark gene: SMC1A was added
gene: SMC1A was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: SMC1A was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 SMARCE1 Zornitza Stark gene: SMARCE1 was added
gene: SMARCE1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: SMARCE1 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 SMARCB1 Zornitza Stark gene: SMARCB1 was added
gene: SMARCB1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: SMARCB1 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 SMARCA4 Zornitza Stark gene: SMARCA4 was added
gene: SMARCA4 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: SMARCA4 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 SMARCA2 Zornitza Stark gene: SMARCA2 was added
gene: SMARCA2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: SMARCA2 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 SMAD4 Zornitza Stark gene: SMAD4 was added
gene: SMAD4 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: SMAD4 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 SLX4 Zornitza Stark gene: SLX4 was added
gene: SLX4 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: SLX4 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 SLC9A9 Zornitza Stark gene: SLC9A9 was added
gene: SLC9A9 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: SLC9A9 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 SLC9A6 Zornitza Stark gene: SLC9A6 was added
gene: SLC9A6 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: SLC9A6 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 SLC7A7 Zornitza Stark gene: SLC7A7 was added
gene: SLC7A7 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: SLC7A7 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 SLC6A8 Zornitza Stark gene: SLC6A8 was added
gene: SLC6A8 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: SLC6A8 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 SLC6A4 Zornitza Stark gene: SLC6A4 was added
gene: SLC6A4 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: SLC6A4 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 SLC6A3 Zornitza Stark gene: SLC6A3 was added
gene: SLC6A3 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: SLC6A3 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 SLC6A19 Zornitza Stark gene: SLC6A19 was added
gene: SLC6A19 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: SLC6A19 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 SLC6A17 Zornitza Stark gene: SLC6A17 was added
gene: SLC6A17 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: SLC6A17 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 SLC5A5 Zornitza Stark gene: SLC5A5 was added
gene: SLC5A5 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: SLC5A5 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 SLC5A2 Zornitza Stark gene: SLC5A2 was added
gene: SLC5A2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: SLC5A2 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 SLC4A4 Zornitza Stark gene: SLC4A4 was added
gene: SLC4A4 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: SLC4A4 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 SLC39A4 Zornitza Stark gene: SLC39A4 was added
gene: SLC39A4 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: SLC39A4 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 SLC35C1 Zornitza Stark gene: SLC35C1 was added
gene: SLC35C1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: SLC35C1 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 SLC35A3 Zornitza Stark gene: SLC35A3 was added
gene: SLC35A3 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: SLC35A3 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 SLC35A2 Zornitza Stark gene: SLC35A2 was added
gene: SLC35A2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: SLC35A2 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 SLC35A1 Zornitza Stark gene: SLC35A1 was added
gene: SLC35A1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: SLC35A1 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 SLC33A1 Zornitza Stark gene: SLC33A1 was added
gene: SLC33A1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: SLC33A1 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 SLC2A2 Zornitza Stark gene: SLC2A2 was added
gene: SLC2A2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: SLC2A2 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 SLC2A10 Zornitza Stark gene: SLC2A10 was added
gene: SLC2A10 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: SLC2A10 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 SLC2A1 Zornitza Stark gene: SLC2A1 was added
gene: SLC2A1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: SLC2A1 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 SLC29A3 Zornitza Stark gene: SLC29A3 was added
gene: SLC29A3 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: SLC29A3 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 SLC25A4 Zornitza Stark gene: SLC25A4 was added
gene: SLC25A4 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: SLC25A4 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 SLC25A22 Zornitza Stark gene: SLC25A22 was added
gene: SLC25A22 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: SLC25A22 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 SLC25A19 Zornitza Stark gene: SLC25A19 was added
gene: SLC25A19 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: SLC25A19 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 SLC25A15 Zornitza Stark gene: SLC25A15 was added
gene: SLC25A15 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: SLC25A15 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 SLC25A13 Zornitza Stark gene: SLC25A13 was added
gene: SLC25A13 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: SLC25A13 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 SLC25A12 Zornitza Stark gene: SLC25A12 was added
gene: SLC25A12 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: SLC25A12 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 SLC25A1 Zornitza Stark gene: SLC25A1 was added
gene: SLC25A1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: SLC25A1 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 SLC22A5 Zornitza Stark gene: SLC22A5 was added
gene: SLC22A5 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: SLC22A5 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 SLC20A2 Zornitza Stark gene: SLC20A2 was added
gene: SLC20A2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: SLC20A2 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 SLC1A3 Zornitza Stark gene: SLC1A3 was added
gene: SLC1A3 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: SLC1A3 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 SLC1A1 Zornitza Stark gene: SLC1A1 was added
gene: SLC1A1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: SLC1A1 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 SLC19A3 Zornitza Stark gene: SLC19A3 was added
gene: SLC19A3 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: SLC19A3 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 SLC19A2 Zornitza Stark gene: SLC19A2 was added
gene: SLC19A2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: SLC19A2 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 SLC17A5 Zornitza Stark gene: SLC17A5 was added
gene: SLC17A5 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: SLC17A5 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 SLC16A2 Zornitza Stark gene: SLC16A2 was added
gene: SLC16A2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: SLC16A2 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 SLC13A5 Zornitza Stark gene: SLC13A5 was added
gene: SLC13A5 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: SLC13A5 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 SLC12A6 Zornitza Stark gene: SLC12A6 was added
gene: SLC12A6 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: SLC12A6 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 SLC12A1 Zornitza Stark gene: SLC12A1 was added
gene: SLC12A1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: SLC12A1 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 SKI Zornitza Stark gene: SKI was added
gene: SKI was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: SKI was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 SIX3 Zornitza Stark gene: SIX3 was added
gene: SIX3 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: SIX3 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 SIL1 Zornitza Stark gene: SIL1 was added
gene: SIL1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: SIL1 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 SHROOM4 Zornitza Stark gene: SHROOM4 was added
gene: SHROOM4 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: SHROOM4 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 SHOC2 Zornitza Stark gene: SHOC2 was added
gene: SHOC2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: SHOC2 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 SHH Zornitza Stark gene: SHH was added
gene: SHH was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: SHH was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 SHANK3 Zornitza Stark gene: SHANK3 was added
gene: SHANK3 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: SHANK3 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 SHANK2 Zornitza Stark gene: SHANK2 was added
gene: SHANK2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: SHANK2 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 SH3TC2 Zornitza Stark gene: SH3TC2 was added
gene: SH3TC2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: SH3TC2 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 SGSH Zornitza Stark gene: SGSH was added
gene: SGSH was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: SGSH was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 SGCA Zornitza Stark gene: SGCA was added
gene: SGCA was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: SGCA was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 SFXN4 Zornitza Stark gene: SFXN4 was added
gene: SFXN4 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: SFXN4 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 SF3B4 Zornitza Stark gene: SF3B4 was added
gene: SF3B4 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: SF3B4 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 SETD5 Zornitza Stark gene: SETD5 was added
gene: SETD5 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: SETD5 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 SETD2 Zornitza Stark gene: SETD2 was added
gene: SETD2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: SETD2 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 SETBP1 Zornitza Stark gene: SETBP1 was added
gene: SETBP1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: SETBP1 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 SERAC1 Zornitza Stark gene: SERAC1 was added
gene: SERAC1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: SERAC1 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 SEPSECS Zornitza Stark gene: SEPSECS was added
gene: SEPSECS was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: SEPSECS was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 SELENON Zornitza Stark gene: SELENON was added
gene: SELENON was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: SELENON was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 SEMA3E Zornitza Stark gene: SEMA3E was added
gene: SEMA3E was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: SEMA3E was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 SDHD Zornitza Stark gene: SDHD was added
gene: SDHD was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: SDHD was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 SDHAF1 Zornitza Stark gene: SDHAF1 was added
gene: SDHAF1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: SDHAF1 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 SDHA Zornitza Stark gene: SDHA was added
gene: SDHA was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: SDHA was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 SDCCAG8 Zornitza Stark gene: SDCCAG8 was added
gene: SDCCAG8 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: SDCCAG8 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 SCO2 Zornitza Stark gene: SCO2 was added
gene: SCO2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: SCO2 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 SCO1 Zornitza Stark gene: SCO1 was added
gene: SCO1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: SCO1 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 SCN9A Zornitza Stark gene: SCN9A was added
gene: SCN9A was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: SCN9A was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 SCN8A Zornitza Stark gene: SCN8A was added
gene: SCN8A was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: SCN8A was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 SCN2A Zornitza Stark gene: SCN2A was added
gene: SCN2A was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: SCN2A was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 SCN1B Zornitza Stark gene: SCN1B was added
gene: SCN1B was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: SCN1B was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 SCN1A Zornitza Stark gene: SCN1A was added
gene: SCN1A was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: SCN1A was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 SCN11A Zornitza Stark gene: SCN11A was added
gene: SCN11A was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: SCN11A was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 SC5D Zornitza Stark gene: SC5D was added
gene: SC5D was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: SC5D was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 SBF1 Zornitza Stark gene: SBF1 was added
gene: SBF1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: SBF1 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 SBDS Zornitza Stark gene: SBDS was added
gene: SBDS was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: SBDS was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 SATB2 Zornitza Stark gene: SATB2 was added
gene: SATB2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: SATB2 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 SARS2 Zornitza Stark gene: SARS2 was added
gene: SARS2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: SARS2 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 SAMHD1 Zornitza Stark gene: SAMHD1 was added
gene: SAMHD1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: SAMHD1 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 SALL1 Zornitza Stark gene: SALL1 was added
gene: SALL1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: SALL1 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 SACS Zornitza Stark gene: SACS was added
gene: SACS was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: SACS was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 RTTN Zornitza Stark gene: RTTN was added
gene: RTTN was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: RTTN was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 RTN4IP1 Zornitza Stark gene: RTN4IP1 was added
gene: RTN4IP1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: RTN4IP1 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 RRM2B Zornitza Stark gene: RRM2B was added
gene: RRM2B was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: RRM2B was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 RPS6KA3 Zornitza Stark gene: RPS6KA3 was added
gene: RPS6KA3 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: RPS6KA3 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 RPS28 Zornitza Stark gene: RPS28 was added
gene: RPS28 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: RPS28 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 RPS19 Zornitza Stark gene: RPS19 was added
gene: RPS19 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: RPS19 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 RPL11 Zornitza Stark gene: RPL11 was added
gene: RPL11 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: RPL11 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 RPL10 Zornitza Stark gene: RPL10 was added
gene: RPL10 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: RPL10 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 RPGRIP1L Zornitza Stark gene: RPGRIP1L was added
gene: RPGRIP1L was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: RPGRIP1L was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 ROR2 Zornitza Stark gene: ROR2 was added
gene: ROR2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: ROR2 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 ROGDI Zornitza Stark gene: ROGDI was added
gene: ROGDI was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: ROGDI was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 RNU4ATAC Zornitza Stark gene: RNU4ATAC was added
gene: RNU4ATAC was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: RNU4ATAC was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 RNASET2 Zornitza Stark gene: RNASET2 was added
gene: RNASET2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: RNASET2 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 RNASEH2C Zornitza Stark gene: RNASEH2C was added
gene: RNASEH2C was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: RNASEH2C was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 RNASEH2B Zornitza Stark gene: RNASEH2B was added
gene: RNASEH2B was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: RNASEH2B was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 RNASEH2A Zornitza Stark gene: RNASEH2A was added
gene: RNASEH2A was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: RNASEH2A was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 RMRP Zornitza Stark gene: RMRP was added
gene: RMRP was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: RMRP was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 RMND1 Zornitza Stark gene: RMND1 was added
gene: RMND1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: RMND1 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 RLIM Zornitza Stark gene: RLIM was added
gene: RLIM was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: RLIM was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 RIT1 Zornitza Stark gene: RIT1 was added
gene: RIT1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: RIT1 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 RIN2 Zornitza Stark gene: RIN2 was added
gene: RIN2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: RIN2 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 RFX6 Zornitza Stark gene: RFX6 was added
gene: RFX6 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: RFX6 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 RFT1 Zornitza Stark gene: RFT1 was added
gene: RFT1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: RFT1 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 RET Zornitza Stark gene: RET was added
gene: RET was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: RET was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 RELN Zornitza Stark gene: RELN was added
gene: RELN was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: RELN was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 RECQL4 Zornitza Stark gene: RECQL4 was added
gene: RECQL4 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: RECQL4 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 RBPJ Zornitza Stark gene: RBPJ was added
gene: RBPJ was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: RBPJ was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 RBM8A Zornitza Stark gene: RBM8A was added
gene: RBM8A was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: RBM8A was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 RBM28 Zornitza Stark gene: RBM28 was added
gene: RBM28 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: RBM28 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 RBM10 Zornitza Stark gene: RBM10 was added
gene: RBM10 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: RBM10 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 RBFOX1 Zornitza Stark gene: RBFOX1 was added
gene: RBFOX1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: RBFOX1 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 RBBP8 Zornitza Stark gene: RBBP8 was added
gene: RBBP8 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: RBBP8 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 RARS2 Zornitza Stark gene: RARS2 was added
gene: RARS2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: RARS2 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 RARB Zornitza Stark gene: RARB was added
gene: RARB was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: RARB was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 RAPSN Zornitza Stark gene: RAPSN was added
gene: RAPSN was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: RAPSN was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 RANBP2 Zornitza Stark gene: RANBP2 was added
gene: RANBP2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: RANBP2 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 RAI1 Zornitza Stark gene: RAI1 was added
gene: RAI1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: RAI1 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 RAF1 Zornitza Stark gene: RAF1 was added
gene: RAF1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: RAF1 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 RAD21 Zornitza Stark gene: RAD21 was added
gene: RAD21 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: RAD21 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 RAB40AL Zornitza Stark gene: RAB40AL was added
gene: RAB40AL was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: RAB40AL was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 RAB3GAP2 Zornitza Stark gene: RAB3GAP2 was added
gene: RAB3GAP2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: RAB3GAP2 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 RAB3GAP1 Zornitza Stark gene: RAB3GAP1 was added
gene: RAB3GAP1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: RAB3GAP1 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 RAB39B Zornitza Stark gene: RAB39B was added
gene: RAB39B was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: RAB39B was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 RAB27A Zornitza Stark gene: RAB27A was added
gene: RAB27A was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: RAB27A was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 RAB23 Zornitza Stark gene: RAB23 was added
gene: RAB23 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: RAB23 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 RAB18 Zornitza Stark gene: RAB18 was added
gene: RAB18 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: RAB18 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 QDPR Zornitza Stark gene: QDPR was added
gene: QDPR was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: QDPR was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 QARS Zornitza Stark gene: QARS was added
gene: QARS was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: QARS was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 PYGL Zornitza Stark gene: PYGL was added
gene: PYGL was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: PYGL was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 PYCR1 Zornitza Stark gene: PYCR1 was added
gene: PYCR1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: PYCR1 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 PUS1 Zornitza Stark gene: PUS1 was added
gene: PUS1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: PUS1 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 PURA Zornitza Stark gene: PURA was added
gene: PURA was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: PURA was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 PTS Zornitza Stark gene: PTS was added
gene: PTS was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: PTS was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 PTPN11 Zornitza Stark gene: PTPN11 was added
gene: PTPN11 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: PTPN11 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 PTEN Zornitza Stark gene: PTEN was added
gene: PTEN was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: PTEN was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 PTDSS1 Zornitza Stark gene: PTDSS1 was added
gene: PTDSS1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: PTDSS1 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 PTCHD1 Zornitza Stark gene: PTCHD1 was added
gene: PTCHD1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: PTCHD1 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 PTCH1 Zornitza Stark gene: PTCH1 was added
gene: PTCH1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: PTCH1 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 PSPH Zornitza Stark gene: PSPH was added
gene: PSPH was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: PSPH was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 PSAT1 Zornitza Stark gene: PSAT1 was added
gene: PSAT1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: PSAT1 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 PSAP Zornitza Stark gene: PSAP was added
gene: PSAP was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: PSAP was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 PRX Zornitza Stark gene: PRX was added
gene: PRX was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: PRX was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 PRSS12 Zornitza Stark gene: PRSS12 was added
gene: PRSS12 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: PRSS12 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 PRRX1 Zornitza Stark gene: PRRX1 was added
gene: PRRX1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: PRRX1 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 PRPS1 Zornitza Stark gene: PRPS1 was added
gene: PRPS1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: PRPS1 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 PRODH Zornitza Stark gene: PRODH was added
gene: PRODH was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: PRODH was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 PRKRA Zornitza Stark gene: PRKRA was added
gene: PRKRA was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: PRKRA was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 PRKDC Zornitza Stark gene: PRKDC was added
gene: PRKDC was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: PRKDC was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 PRKAR1A Zornitza Stark gene: PRKAR1A was added
gene: PRKAR1A was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: PRKAR1A was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 PRICKLE1 Zornitza Stark gene: PRICKLE1 was added
gene: PRICKLE1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: PRICKLE1 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 PRF1 Zornitza Stark gene: PRF1 was added
gene: PRF1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: PRF1 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 PREPL Zornitza Stark gene: PREPL was added
gene: PREPL was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: PREPL was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 PRDM8 Zornitza Stark gene: PRDM8 was added
gene: PRDM8 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: PRDM8 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 PQBP1 Zornitza Stark gene: PQBP1 was added
gene: PQBP1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: PQBP1 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 PPT1 Zornitza Stark gene: PPT1 was added
gene: PPT1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: PPT1 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 PPP2R5D Zornitza Stark gene: PPP2R5D was added
gene: PPP2R5D was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: PPP2R5D was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 PPP2R1A Zornitza Stark gene: PPP2R1A was added
gene: PPP2R1A was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: PPP2R1A was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 PPOX Zornitza Stark gene: PPOX was added
gene: PPOX was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: PPOX was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 PPM1K Zornitza Stark gene: PPM1K was added
gene: PPM1K was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: PPM1K was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 PPM1D Zornitza Stark gene: PPM1D was added
gene: PPM1D was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: PPM1D was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 POU1F1 Zornitza Stark gene: POU1F1 was added
gene: POU1F1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: POU1F1 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 PORCN Zornitza Stark gene: PORCN was added
gene: PORCN was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: PORCN was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 POP1 Zornitza Stark gene: POP1 was added
gene: POP1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: POP1 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 PON3 Zornitza Stark gene: PON3 was added
gene: PON3 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: PON3 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 POMT2 Zornitza Stark gene: POMT2 was added
gene: POMT2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: POMT2 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 POMT1 Zornitza Stark gene: POMT1 was added
gene: POMT1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: POMT1 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 POMK Zornitza Stark gene: POMK was added
gene: POMK was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: POMK was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 POMGNT2 Zornitza Stark gene: POMGNT2 was added
gene: POMGNT2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: POMGNT2 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 POMGNT1 Zornitza Stark gene: POMGNT1 was added
gene: POMGNT1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: POMGNT1 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 POLR3B Zornitza Stark gene: POLR3B was added
gene: POLR3B was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: POLR3B was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 POLR3A Zornitza Stark gene: POLR3A was added
gene: POLR3A was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: POLR3A was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 POC1A Zornitza Stark gene: POC1A was added
gene: POC1A was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: POC1A was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 PNPT1 Zornitza Stark gene: PNPT1 was added
gene: PNPT1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: PNPT1 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 PNPLA6 Zornitza Stark gene: PNPLA6 was added
gene: PNPLA6 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: PNPLA6 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 PNP Zornitza Stark gene: PNP was added
gene: PNP was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: PNP was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 PNKP Zornitza Stark gene: PNKP was added
gene: PNKP was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: PNKP was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 PMM2 Zornitza Stark gene: PMM2 was added
gene: PMM2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: PMM2 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 PLP1 Zornitza Stark gene: PLP1 was added
gene: PLP1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: PLP1 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 PLOD3 Zornitza Stark gene: PLOD3 was added
gene: PLOD3 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: PLOD3 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 PLCB1 Zornitza Stark gene: PLCB1 was added
gene: PLCB1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: PLCB1 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 PLA2G6 Zornitza Stark gene: PLA2G6 was added
gene: PLA2G6 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: PLA2G6 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 PIP5K1B Zornitza Stark gene: PIP5K1B was added
gene: PIP5K1B was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: PIP5K1B was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 PINK1 Zornitza Stark gene: PINK1 was added
gene: PINK1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: PINK1 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 PIK3R2 Zornitza Stark gene: PIK3R2 was added
gene: PIK3R2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: PIK3R2 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 PIK3R1 Zornitza Stark gene: PIK3R1 was added
gene: PIK3R1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: PIK3R1 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 PIK3CA Zornitza Stark gene: PIK3CA was added
gene: PIK3CA was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: PIK3CA was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 PIGY Zornitza Stark gene: PIGY was added
gene: PIGY was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: PIGY was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 PIGW Zornitza Stark gene: PIGW was added
gene: PIGW was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: PIGW was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 PIGV Zornitza Stark gene: PIGV was added
gene: PIGV was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: PIGV was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 PIGT Zornitza Stark gene: PIGT was added
gene: PIGT was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: PIGT was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 PIGO Zornitza Stark gene: PIGO was added
gene: PIGO was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: PIGO was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 PIGN Zornitza Stark gene: PIGN was added
gene: PIGN was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: PIGN was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 PIGL Zornitza Stark gene: PIGL was added
gene: PIGL was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: PIGL was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 PIGG Zornitza Stark gene: PIGG was added
gene: PIGG was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: PIGG was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 PIGA Zornitza Stark gene: PIGA was added
gene: PIGA was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: PIGA was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 PIEZO2 Zornitza Stark gene: PIEZO2 was added
gene: PIEZO2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: PIEZO2 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 PHKG2 Zornitza Stark gene: PHKG2 was added
gene: PHKG2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: PHKG2 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 PHKA2 Zornitza Stark gene: PHKA2 was added
gene: PHKA2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: PHKA2 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 PHGDH Zornitza Stark gene: PHGDH was added
gene: PHGDH was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: PHGDH was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 PHF8 Zornitza Stark gene: PHF8 was added
gene: PHF8 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: PHF8 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 PHF6 Zornitza Stark gene: PHF6 was added
gene: PHF6 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: PHF6 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 PHC1 Zornitza Stark gene: PHC1 was added
gene: PHC1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: PHC1 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 PGK1 Zornitza Stark gene: PGK1 was added
gene: PGK1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: PGK1 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 PGAP3 Zornitza Stark gene: PGAP3 was added
gene: PGAP3 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: PGAP3 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 PGAP2 Zornitza Stark gene: PGAP2 was added
gene: PGAP2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: PGAP2 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 PGAP1 Zornitza Stark gene: PGAP1 was added
gene: PGAP1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: PGAP1 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 PEX7 Zornitza Stark gene: PEX7 was added
gene: PEX7 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: PEX7 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 PEX6 Zornitza Stark gene: PEX6 was added
gene: PEX6 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: PEX6 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 PEX5 Zornitza Stark gene: PEX5 was added
gene: PEX5 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: PEX5 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 PEX3 Zornitza Stark gene: PEX3 was added
gene: PEX3 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: PEX3 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 PEX2 Zornitza Stark gene: PEX2 was added
gene: PEX2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: PEX2 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 PEX19 Zornitza Stark gene: PEX19 was added
gene: PEX19 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: PEX19 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 PEX16 Zornitza Stark gene: PEX16 was added
gene: PEX16 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: PEX16 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 PEX13 Zornitza Stark gene: PEX13 was added
gene: PEX13 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: PEX13 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 PEX12 Zornitza Stark gene: PEX12 was added
gene: PEX12 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: PEX12 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 PEX11B Zornitza Stark gene: PEX11B was added
gene: PEX11B was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: PEX11B was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 PEX10 Zornitza Stark gene: PEX10 was added
gene: PEX10 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: PEX10 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 PET100 Zornitza Stark gene: PET100 was added
gene: PET100 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: PET100 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 PEPD Zornitza Stark gene: PEPD was added
gene: PEPD was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: PEPD was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 PDSS2 Zornitza Stark gene: PDSS2 was added
gene: PDSS2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: PDSS2 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 PDSS1 Zornitza Stark gene: PDSS1 was added
gene: PDSS1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: PDSS1 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 PDP1 Zornitza Stark gene: PDP1 was added
gene: PDP1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: PDP1 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 PDHX Zornitza Stark gene: PDHX was added
gene: PDHX was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: PDHX was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 PDHB Zornitza Stark gene: PDHB was added
gene: PDHB was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: PDHB was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 PDHA1 Zornitza Stark gene: PDHA1 was added
gene: PDHA1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: PDHA1 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 PDGFRB Zornitza Stark gene: PDGFRB was added
gene: PDGFRB was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: PDGFRB was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 PDGFB Zornitza Stark gene: PDGFB was added
gene: PDGFB was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: PDGFB was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 PDE6D Zornitza Stark gene: PDE6D was added
gene: PDE6D was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: PDE6D was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 PDE4D Zornitza Stark gene: PDE4D was added
gene: PDE4D was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: PDE4D was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 PDE11A Zornitza Stark gene: PDE11A was added
gene: PDE11A was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: PDE11A was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 PDE10A Zornitza Stark gene: PDE10A was added
gene: PDE10A was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: PDE10A was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 PCNT Zornitza Stark gene: PCNT was added
gene: PCNT was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: PCNT was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 PCDH9 Zornitza Stark gene: PCDH9 was added
gene: PCDH9 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: PCDH9 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 PCDH19 Zornitza Stark gene: PCDH19 was added
gene: PCDH19 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: PCDH19 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 PCDH15 Zornitza Stark gene: PCDH15 was added
gene: PCDH15 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: PCDH15 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 PCCB Zornitza Stark gene: PCCB was added
gene: PCCB was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: PCCB was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 PCCA Zornitza Stark gene: PCCA was added
gene: PCCA was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: PCCA was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 PCBD1 Zornitza Stark gene: PCBD1 was added
gene: PCBD1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: PCBD1 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 PC Zornitza Stark gene: PC was added
gene: PC was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: PC was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 PAX6 Zornitza Stark gene: PAX6 was added
gene: PAX6 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: PAX6 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 PAX3 Zornitza Stark gene: PAX3 was added
gene: PAX3 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: PAX3 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 PAX2 Zornitza Stark gene: PAX2 was added
gene: PAX2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: PAX2 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 PRKN Zornitza Stark gene: PRKN was added
gene: PRKN was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: PRKN was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 PANK2 Zornitza Stark gene: PANK2 was added
gene: PANK2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: PANK2 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 PAM16 Zornitza Stark gene: PAM16 was added
gene: PAM16 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: PAM16 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 PAK3 Zornitza Stark gene: PAK3 was added
gene: PAK3 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: PAK3 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 PAH Zornitza Stark gene: PAH was added
gene: PAH was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: PAH was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 PAFAH1B1 Zornitza Stark gene: PAFAH1B1 was added
gene: PAFAH1B1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: PAFAH1B1 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 PACS1 Zornitza Stark gene: PACS1 was added
gene: PACS1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: PACS1 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 OTX2 Zornitza Stark gene: OTX2 was added
gene: OTX2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: OTX2 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 OTC Zornitza Stark gene: OTC was added
gene: OTC was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: OTC was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 ORC6 Zornitza Stark gene: ORC6 was added
gene: ORC6 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: ORC6 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 ORC1 Zornitza Stark gene: ORC1 was added
gene: ORC1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: ORC1 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 OPHN1 Zornitza Stark gene: OPHN1 was added
gene: OPHN1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: OPHN1 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 OPA3 Zornitza Stark gene: OPA3 was added
gene: OPA3 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: OPA3 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 OGT Zornitza Stark gene: OGT was added
gene: OGT was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: OGT was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 OFD1 Zornitza Stark gene: OFD1 was added
gene: OFD1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: OFD1 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 OCRL Zornitza Stark gene: OCRL was added
gene: OCRL was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: OCRL was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 OCLN Zornitza Stark gene: OCLN was added
gene: OCLN was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: OCLN was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 NUP62 Zornitza Stark gene: NUP62 was added
gene: NUP62 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: NUP62 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 NUBPL Zornitza Stark gene: NUBPL was added
gene: NUBPL was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: NUBPL was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 NTRK1 Zornitza Stark gene: NTRK1 was added
gene: NTRK1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: NTRK1 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 NTNG1 Zornitza Stark gene: NTNG1 was added
gene: NTNG1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: NTNG1 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 NT5C2 Zornitza Stark gene: NT5C2 was added
gene: NT5C2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: NT5C2 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 NSUN2 Zornitza Stark gene: NSUN2 was added
gene: NSUN2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: NSUN2 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 NSDHL Zornitza Stark gene: NSDHL was added
gene: NSDHL was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: NSDHL was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 NSD1 Zornitza Stark gene: NSD1 was added
gene: NSD1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: NSD1 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 NRXN1 Zornitza Stark gene: NRXN1 was added
gene: NRXN1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: NRXN1 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 NRAS Zornitza Stark gene: NRAS was added
gene: NRAS was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: NRAS was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 NR2F1 Zornitza Stark gene: NR2F1 was added
gene: NR2F1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: NR2F1 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 NPHP3 Zornitza Stark gene: NPHP3 was added
gene: NPHP3 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: NPHP3 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 NPHP1 Zornitza Stark gene: NPHP1 was added
gene: NPHP1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: NPHP1 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 NPC2 Zornitza Stark gene: NPC2 was added
gene: NPC2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: NPC2 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 NPC1 Zornitza Stark gene: NPC1 was added
gene: NPC1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: NPC1 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 NOTCH3 Zornitza Stark gene: NOTCH3 was added
gene: NOTCH3 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: NOTCH3 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 NOP10 Zornitza Stark gene: NOP10 was added
gene: NOP10 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: NOP10 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 NONO Zornitza Stark gene: NONO was added
gene: NONO was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: NONO was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 NLGN4X Zornitza Stark gene: NLGN4X was added
gene: NLGN4X was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: NLGN4X was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 NLGN3 Zornitza Stark gene: NLGN3 was added
gene: NLGN3 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: NLGN3 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 NKX2-1 Zornitza Stark gene: NKX2-1 was added
gene: NKX2-1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: NKX2-1 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 NIPBL Zornitza Stark gene: NIPBL was added
gene: NIPBL was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: NIPBL was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 NIN Zornitza Stark gene: NIN was added
gene: NIN was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: NIN was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 NHS Zornitza Stark gene: NHS was added
gene: NHS was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: NHS was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 NHP2 Zornitza Stark gene: NHP2 was added
gene: NHP2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: NHP2 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 NHLRC1 Zornitza Stark gene: NHLRC1 was added
gene: NHLRC1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: NHLRC1 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 NHEJ1 Zornitza Stark gene: NHEJ1 was added
gene: NHEJ1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: NHEJ1 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 NGLY1 Zornitza Stark gene: NGLY1 was added
gene: NGLY1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: NGLY1 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 NGF Zornitza Stark gene: NGF was added
gene: NGF was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: NGF was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 NFU1 Zornitza Stark gene: NFU1 was added
gene: NFU1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: NFU1 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 NFIX Zornitza Stark gene: NFIX was added
gene: NFIX was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: NFIX was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 NFIA Zornitza Stark gene: NFIA was added
gene: NFIA was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: NFIA was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 NF1 Zornitza Stark gene: NF1 was added
gene: NF1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: NF1 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 NEU1 Zornitza Stark gene: NEU1 was added
gene: NEU1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: NEU1 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 NEGR1 Zornitza Stark gene: NEGR1 was added
gene: NEGR1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: NEGR1 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 NEDD4L Zornitza Stark gene: NEDD4L was added
gene: NEDD4L was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: NEDD4L was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 NECAP1 Zornitza Stark gene: NECAP1 was added
gene: NECAP1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: NECAP1 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 NDUFV2 Zornitza Stark gene: NDUFV2 was added
gene: NDUFV2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: NDUFV2 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 NDUFV1 Zornitza Stark gene: NDUFV1 was added
gene: NDUFV1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: NDUFV1 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 NDUFS8 Zornitza Stark gene: NDUFS8 was added
gene: NDUFS8 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: NDUFS8 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 NDUFS7 Zornitza Stark gene: NDUFS7 was added
gene: NDUFS7 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: NDUFS7 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 NDUFS6 Zornitza Stark gene: NDUFS6 was added
gene: NDUFS6 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: NDUFS6 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 NDUFS4 Zornitza Stark gene: NDUFS4 was added
gene: NDUFS4 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: NDUFS4 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 NDUFS3 Zornitza Stark gene: NDUFS3 was added
gene: NDUFS3 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: NDUFS3 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 NDUFS2 Zornitza Stark gene: NDUFS2 was added
gene: NDUFS2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: NDUFS2 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 NDUFS1 Zornitza Stark gene: NDUFS1 was added
gene: NDUFS1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: NDUFS1 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 NDUFB9 Zornitza Stark gene: NDUFB9 was added
gene: NDUFB9 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: NDUFB9 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 NDUFB3 Zornitza Stark gene: NDUFB3 was added
gene: NDUFB3 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: NDUFB3 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 NDUFAF6 Zornitza Stark gene: NDUFAF6 was added
gene: NDUFAF6 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: NDUFAF6 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 NDUFAF5 Zornitza Stark gene: NDUFAF5 was added
gene: NDUFAF5 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: NDUFAF5 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 NDUFAF4 Zornitza Stark gene: NDUFAF4 was added
gene: NDUFAF4 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: NDUFAF4 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 NDUFAF3 Zornitza Stark gene: NDUFAF3 was added
gene: NDUFAF3 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: NDUFAF3 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 NDUFAF2 Zornitza Stark gene: NDUFAF2 was added
gene: NDUFAF2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: NDUFAF2 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 NDUFAF1 Zornitza Stark gene: NDUFAF1 was added
gene: NDUFAF1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: NDUFAF1 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 NDUFA9 Zornitza Stark gene: NDUFA9 was added
gene: NDUFA9 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: NDUFA9 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 NDUFA2 Zornitza Stark gene: NDUFA2 was added
gene: NDUFA2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: NDUFA2 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 NDUFA11 Zornitza Stark gene: NDUFA11 was added
gene: NDUFA11 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: NDUFA11 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 NDUFA10 Zornitza Stark gene: NDUFA10 was added
gene: NDUFA10 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: NDUFA10 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 NDUFA1 Zornitza Stark gene: NDUFA1 was added
gene: NDUFA1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: NDUFA1 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 NDST1 Zornitza Stark gene: NDST1 was added
gene: NDST1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: NDST1 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 NDP Zornitza Stark gene: NDP was added
gene: NDP was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: NDP was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 NDN Zornitza Stark gene: NDN was added
gene: NDN was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: NDN was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 NDE1 Zornitza Stark gene: NDE1 was added
gene: NDE1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: NDE1 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 NBN Zornitza Stark gene: NBN was added
gene: NBN was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: NBN was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 NALCN Zornitza Stark gene: NALCN was added
gene: NALCN was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: NALCN was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 NAGS Zornitza Stark gene: NAGS was added
gene: NAGS was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: NAGS was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 NAGLU Zornitza Stark gene: NAGLU was added
gene: NAGLU was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: NAGLU was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 NAGA Zornitza Stark gene: NAGA was added
gene: NAGA was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: NAGA was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 NAA10 Zornitza Stark gene: NAA10 was added
gene: NAA10 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: NAA10 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 MYT1L Zornitza Stark gene: MYT1L was added
gene: MYT1L was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: MYT1L was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 MYO7A Zornitza Stark gene: MYO7A was added
gene: MYO7A was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: MYO7A was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 MYO5A Zornitza Stark gene: MYO5A was added
gene: MYO5A was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: MYO5A was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 MYH3 Zornitza Stark gene: MYH3 was added
gene: MYH3 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: MYH3 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 MYCN Zornitza Stark gene: MYCN was added
gene: MYCN was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: MYCN was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 MVK Zornitza Stark gene: MVK was added
gene: MVK was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: MVK was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 MUT Zornitza Stark gene: MUT was added
gene: MUT was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: MUT was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 MTRR Zornitza Stark gene: MTRR was added
gene: MTRR was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: MTRR was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 MTR Zornitza Stark gene: MTR was added
gene: MTR was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: MTR was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 MTPAP Zornitza Stark gene: MTPAP was added
gene: MTPAP was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: MTPAP was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 MTO1 Zornitza Stark gene: MTO1 was added
gene: MTO1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: MTO1 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 MTMR2 Zornitza Stark gene: MTMR2 was added
gene: MTMR2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: MTMR2 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 MTM1 Zornitza Stark gene: MTM1 was added
gene: MTM1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: MTM1 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 MTHFR Zornitza Stark gene: MTHFR was added
gene: MTHFR was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: MTHFR was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 MTFMT Zornitza Stark gene: MTFMT was added
gene: MTFMT was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: MTFMT was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 MSH6 Zornitza Stark gene: MSH6 was added
gene: MSH6 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: MSH6 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 MRPS22 Zornitza Stark gene: MRPS22 was added
gene: MRPS22 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: MRPS22 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 MRPS16 Zornitza Stark gene: MRPS16 was added
gene: MRPS16 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: MRPS16 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 MRPL3 Zornitza Stark gene: MRPL3 was added
gene: MRPL3 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: MRPL3 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 MRAP Zornitza Stark gene: MRAP was added
gene: MRAP was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: MRAP was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 MPZ Zornitza Stark gene: MPZ was added
gene: MPZ was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: MPZ was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 MPV17 Zornitza Stark gene: MPV17 was added
gene: MPV17 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: MPV17 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 MPLKIP Zornitza Stark gene: MPLKIP was added
gene: MPLKIP was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: MPLKIP was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 MPI Zornitza Stark gene: MPI was added
gene: MPI was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: MPI was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 MPDZ Zornitza Stark gene: MPDZ was added
gene: MPDZ was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: MPDZ was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 MPDU1 Zornitza Stark gene: MPDU1 was added
gene: MPDU1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: MPDU1 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 MOGS Zornitza Stark gene: MOGS was added
gene: MOGS was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: MOGS was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 MOCS2 Zornitza Stark gene: MOCS2 was added
gene: MOCS2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: MOCS2 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 MOCS1 Zornitza Stark gene: MOCS1 was added
gene: MOCS1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: MOCS1 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 MNX1 Zornitza Stark gene: MNX1 was added
gene: MNX1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: MNX1 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 MMADHC Zornitza Stark gene: MMADHC was added
gene: MMADHC was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: MMADHC was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 MMACHC Zornitza Stark gene: MMACHC was added
gene: MMACHC was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: MMACHC was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 MMAB Zornitza Stark gene: MMAB was added
gene: MMAB was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: MMAB was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 MMAA Zornitza Stark gene: MMAA was added
gene: MMAA was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: MMAA was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 MLYCD Zornitza Stark gene: MLYCD was added
gene: MLYCD was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: MLYCD was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 MLH1 Zornitza Stark gene: MLH1 was added
gene: MLH1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: MLH1 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 MLC1 Zornitza Stark gene: MLC1 was added
gene: MLC1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: MLC1 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 MKS1 Zornitza Stark gene: MKS1 was added
gene: MKS1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: MKS1 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 MKKS Zornitza Stark gene: MKKS was added
gene: MKKS was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: MKKS was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 MIR17HG Zornitza Stark gene: MIR17HG was added
gene: MIR17HG was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: MIR17HG was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 MID2 Zornitza Stark gene: MID2 was added
gene: MID2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: MID2 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 MID1 Zornitza Stark gene: MID1 was added
gene: MID1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: MID1 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 MGP Zornitza Stark gene: MGP was added
gene: MGP was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: MGP was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 MGME1 Zornitza Stark gene: MGME1 was added
gene: MGME1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: MGME1 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 MGAT2 Zornitza Stark gene: MGAT2 was added
gene: MGAT2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: MGAT2 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 MFSD8 Zornitza Stark gene: MFSD8 was added
gene: MFSD8 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: MFSD8 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 MFN2 Zornitza Stark gene: MFN2 was added
gene: MFN2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: MFN2 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 METTL23 Zornitza Stark gene: METTL23 was added
gene: METTL23 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: METTL23 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 MET Zornitza Stark gene: MET was added
gene: MET was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: MET was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 MEIS2 Zornitza Stark gene: MEIS2 was added
gene: MEIS2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: MEIS2 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 MEGF8 Zornitza Stark gene: MEGF8 was added
gene: MEGF8 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: MEGF8 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 MEF2C Zornitza Stark gene: MEF2C was added
gene: MEF2C was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: MEF2C was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 MED23 Zornitza Stark gene: MED23 was added
gene: MED23 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: MED23 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 MED17 Zornitza Stark gene: MED17 was added
gene: MED17 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: MED17 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 MED13L Zornitza Stark gene: MED13L was added
gene: MED13L was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: MED13L was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 MED12 Zornitza Stark gene: MED12 was added
gene: MED12 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: MED12 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 MECP2 Zornitza Stark gene: MECP2 was added
gene: MECP2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: MECP2 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 MCPH1 Zornitza Stark gene: MCPH1 was added
gene: MCPH1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: MCPH1 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 MCOLN1 Zornitza Stark gene: MCOLN1 was added
gene: MCOLN1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: MCOLN1 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 MCM4 Zornitza Stark gene: MCM4 was added
gene: MCM4 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: MCM4 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 MCCC2 Zornitza Stark gene: MCCC2 was added
gene: MCCC2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: MCCC2 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 MCCC1 Zornitza Stark gene: MCCC1 was added
gene: MCCC1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: MCCC1 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 MBTPS2 Zornitza Stark gene: MBTPS2 was added
gene: MBTPS2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: MBTPS2 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 MBD5 Zornitza Stark gene: MBD5 was added
gene: MBD5 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: MBD5 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 MAT1A Zornitza Stark gene: MAT1A was added
gene: MAT1A was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: MAT1A was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 MASP1 Zornitza Stark gene: MASP1 was added
gene: MASP1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: MASP1 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 MARS2 Zornitza Stark gene: MARS2 was added
gene: MARS2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: MARS2 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 MAP2K2 Zornitza Stark gene: MAP2K2 was added
gene: MAP2K2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: MAP2K2 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 MAP2K1 Zornitza Stark gene: MAP2K1 was added
gene: MAP2K1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: MAP2K1 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 MAOA Zornitza Stark gene: MAOA was added
gene: MAOA was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: MAOA was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 MANBA Zornitza Stark gene: MANBA was added
gene: MANBA was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: MANBA was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 MAN2B1 Zornitza Stark gene: MAN2B1 was added
gene: MAN2B1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: MAN2B1 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 MAN1B1 Zornitza Stark gene: MAN1B1 was added
gene: MAN1B1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: MAN1B1 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 MAGT1 Zornitza Stark gene: MAGT1 was added
gene: MAGT1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: MAGT1 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 MAGEL2 Zornitza Stark gene: MAGEL2 was added
gene: MAGEL2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: MAGEL2 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 LZTFL1 Zornitza Stark gene: LZTFL1 was added
gene: LZTFL1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: LZTFL1 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 LYST Zornitza Stark gene: LYST was added
gene: LYST was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: LYST was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 LYRM7 Zornitza Stark gene: LYRM7 was added
gene: LYRM7 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: LYRM7 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 LRPPRC Zornitza Stark gene: LRPPRC was added
gene: LRPPRC was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: LRPPRC was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 LRP5 Zornitza Stark gene: LRP5 was added
gene: LRP5 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: LRP5 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 LRP2 Zornitza Stark gene: LRP2 was added
gene: LRP2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: LRP2 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 LMNB1 Zornitza Stark gene: LMNB1 was added
gene: LMNB1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: LMNB1 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 LMNA Zornitza Stark gene: LMNA was added
gene: LMNA was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: LMNA was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 LMBRD1 Zornitza Stark gene: LMBRD1 was added
gene: LMBRD1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: LMBRD1 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 LIPT1 Zornitza Stark gene: LIPT1 was added
gene: LIPT1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: LIPT1 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 LIG4 Zornitza Stark gene: LIG4 was added
gene: LIG4 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: LIG4 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 LIAS Zornitza Stark gene: LIAS was added
gene: LIAS was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: LIAS was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 LHX3 Zornitza Stark gene: LHX3 was added
gene: LHX3 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: LHX3 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 LBR Zornitza Stark gene: LBR was added
gene: LBR was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: LBR was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 LAS1L Zornitza Stark gene: LAS1L was added
gene: LAS1L was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: LAS1L was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 LARP7 Zornitza Stark gene: LARP7 was added
gene: LARP7 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: LARP7 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 LAMP2 Zornitza Stark gene: LAMP2 was added
gene: LAMP2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: LAMP2 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 LAMC3 Zornitza Stark gene: LAMC3 was added
gene: LAMC3 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: LAMC3 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 LAMB2 Zornitza Stark gene: LAMB2 was added
gene: LAMB2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: LAMB2 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 LAMB1 Zornitza Stark gene: LAMB1 was added
gene: LAMB1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: LAMB1 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 LAMA2 Zornitza Stark gene: LAMA2 was added
gene: LAMA2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: LAMA2 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 LAMA1 Zornitza Stark gene: LAMA1 was added
gene: LAMA1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: LAMA1 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 L2HGDH Zornitza Stark gene: L2HGDH was added
gene: L2HGDH was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: L2HGDH was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 L1CAM Zornitza Stark gene: L1CAM was added
gene: L1CAM was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: L1CAM was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 KYNU Zornitza Stark gene: KYNU was added
gene: KYNU was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: KYNU was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 KRAS Zornitza Stark gene: KRAS was added
gene: KRAS was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: KRAS was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 KPTN Zornitza Stark gene: KPTN was added
gene: KPTN was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: KPTN was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 KMT2D Zornitza Stark gene: KMT2D was added
gene: KMT2D was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: KMT2D was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 KMT2C Zornitza Stark gene: KMT2C was added
gene: KMT2C was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: KMT2C was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 KMT2B Zornitza Stark gene: KMT2B was added
gene: KMT2B was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: KMT2B was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 KMT2A Zornitza Stark gene: KMT2A was added
gene: KMT2A was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: KMT2A was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 KLLN Zornitza Stark gene: KLLN was added
gene: KLLN was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: KLLN was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 KLF8 Zornitza Stark gene: KLF8 was added
gene: KLF8 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: KLF8 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 KIRREL3 Zornitza Stark gene: KIRREL3 was added
gene: KIRREL3 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: KIRREL3 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 KIF7 Zornitza Stark gene: KIF7 was added
gene: KIF7 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: KIF7 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 KIF5A Zornitza Stark gene: KIF5A was added
gene: KIF5A was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: KIF5A was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 KIF21A Zornitza Stark gene: KIF21A was added
gene: KIF21A was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: KIF21A was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 KIF1A Zornitza Stark gene: KIF1A was added
gene: KIF1A was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: KIF1A was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 KIF11 Zornitza Stark gene: KIF11 was added
gene: KIF11 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: KIF11 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 WASHC4 Zornitza Stark gene: WASHC4 was added
gene: WASHC4 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: WASHC4 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 RUBCN Zornitza Stark gene: RUBCN was added
gene: RUBCN was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: RUBCN was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 WASHC5 Zornitza Stark gene: WASHC5 was added
gene: WASHC5 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: WASHC5 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 KDM6A Zornitza Stark gene: KDM6A was added
gene: KDM6A was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: KDM6A was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 KDM5C Zornitza Stark gene: KDM5C was added
gene: KDM5C was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: KDM5C was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 KCTD7 Zornitza Stark gene: KCTD7 was added
gene: KCTD7 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: KCTD7 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 KCTD13 Zornitza Stark gene: KCTD13 was added
gene: KCTD13 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: KCTD13 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 KCNT1 Zornitza Stark gene: KCNT1 was added
gene: KCNT1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: KCNT1 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 KCNQ2 Zornitza Stark gene: KCNQ2 was added
gene: KCNQ2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: KCNQ2 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 KCNK9 Zornitza Stark gene: KCNK9 was added
gene: KCNK9 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: KCNK9 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 KCNJ11 Zornitza Stark gene: KCNJ11 was added
gene: KCNJ11 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: KCNJ11 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 KCNJ10 Zornitza Stark gene: KCNJ10 was added
gene: KCNJ10 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: KCNJ10 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 KCNJ1 Zornitza Stark gene: KCNJ1 was added
gene: KCNJ1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: KCNJ1 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 KCND3 Zornitza Stark gene: KCND3 was added
gene: KCND3 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: KCND3 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 KCNC3 Zornitza Stark gene: KCNC3 was added
gene: KCNC3 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: KCNC3 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 KCNB1 Zornitza Stark gene: KCNB1 was added
gene: KCNB1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: KCNB1 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 KATNAL2 Zornitza Stark gene: KATNAL2 was added
gene: KATNAL2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: KATNAL2 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 KAT6B Zornitza Stark gene: KAT6B was added
gene: KAT6B was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: KAT6B was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 KAT6A Zornitza Stark gene: KAT6A was added
gene: KAT6A was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: KAT6A was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 KANSL1 Zornitza Stark gene: KANSL1 was added
gene: KANSL1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: KANSL1 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 KANK1 Zornitza Stark gene: KANK1 was added
gene: KANK1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: KANK1 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 JAM3 Zornitza Stark gene: JAM3 was added
gene: JAM3 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: JAM3 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 JAG1 Zornitza Stark gene: JAG1 was added
gene: JAG1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: JAG1 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 IYD Zornitza Stark gene: IYD was added
gene: IYD was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: IYD was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 IVD Zornitza Stark gene: IVD was added
gene: IVD was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: IVD was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 ITPR1 Zornitza Stark gene: ITPR1 was added
gene: ITPR1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: ITPR1 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 ITGA7 Zornitza Stark gene: ITGA7 was added
gene: ITGA7 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: ITGA7 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 ITCH Zornitza Stark gene: ITCH was added
gene: ITCH was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: ITCH was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 ISPD Zornitza Stark gene: ISPD was added
gene: ISPD was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: ISPD was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 IRX5 Zornitza Stark gene: IRX5 was added
gene: IRX5 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: IRX5 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 IQSEC2 Zornitza Stark gene: IQSEC2 was added
gene: IQSEC2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: IQSEC2 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 INSR Zornitza Stark gene: INSR was added
gene: INSR was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: INSR was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 INS Zornitza Stark gene: INS was added
gene: INS was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: INS was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 INPP5E Zornitza Stark gene: INPP5E was added
gene: INPP5E was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: INPP5E was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 IMPA1 Zornitza Stark gene: IMPA1 was added
gene: IMPA1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: IMPA1 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 IMMP2L Zornitza Stark gene: IMMP2L was added
gene: IMMP2L was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: IMMP2L was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 IL1RAPL1 Zornitza Stark gene: IL1RAPL1 was added
gene: IL1RAPL1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: IL1RAPL1 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 IKBKG Zornitza Stark gene: IKBKG was added
gene: IKBKG was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: IKBKG was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 IGF2 Zornitza Stark gene: IGF2 was added
gene: IGF2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: IGF2 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 IGF1R Zornitza Stark gene: IGF1R was added
gene: IGF1R was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: IGF1R was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 IGF1 Zornitza Stark gene: IGF1 was added
gene: IGF1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: IGF1 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 IGBP1 Zornitza Stark gene: IGBP1 was added
gene: IGBP1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: IGBP1 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 IFT27 Zornitza Stark gene: IFT27 was added
gene: IFT27 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: IFT27 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 IFT172 Zornitza Stark gene: IFT172 was added
gene: IFT172 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: IFT172 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 IFT140 Zornitza Stark gene: IFT140 was added
gene: IFT140 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: IFT140 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 IFIH1 Zornitza Stark gene: IFIH1 was added
gene: IFIH1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: IFIH1 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 IER3IP1 Zornitza Stark gene: IER3IP1 was added
gene: IER3IP1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: IER3IP1 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 IDUA Zornitza Stark gene: IDUA was added
gene: IDUA was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: IDUA was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 IDS Zornitza Stark gene: IDS was added
gene: IDS was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: IDS was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 IDH2 Zornitza Stark gene: IDH2 was added
gene: IDH2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: IDH2 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 IBA57 Zornitza Stark gene: IBA57 was added
gene: IBA57 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: IBA57 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 HYLS1 Zornitza Stark gene: HYLS1 was added
gene: HYLS1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: HYLS1 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 HUWE1 Zornitza Stark gene: HUWE1 was added
gene: HUWE1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: HUWE1 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 HTRA2 Zornitza Stark gene: HTRA2 was added
gene: HTRA2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: HTRA2 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 HSPG2 Zornitza Stark gene: HSPG2 was added
gene: HSPG2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: HSPG2 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 HSPD1 Zornitza Stark gene: HSPD1 was added
gene: HSPD1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: HSPD1 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 HSD17B4 Zornitza Stark gene: HSD17B4 was added
gene: HSD17B4 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: HSD17B4 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 HSD17B10 Zornitza Stark gene: HSD17B10 was added
gene: HSD17B10 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: HSD17B10 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 HRAS Zornitza Stark gene: HRAS was added
gene: HRAS was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: HRAS was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 HPRT1 Zornitza Stark gene: HPRT1 was added
gene: HPRT1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: HPRT1 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 HPD Zornitza Stark gene: HPD was added
gene: HPD was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: HPD was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 HOXD10 Zornitza Stark gene: HOXD10 was added
gene: HOXD10 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: HOXD10 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 HOXA1 Zornitza Stark gene: HOXA1 was added
gene: HOXA1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: HOXA1 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 HNRNPU Zornitza Stark gene: HNRNPU was added
gene: HNRNPU was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: HNRNPU was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 HNMT Zornitza Stark gene: HNMT was added
gene: HNMT was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: HNMT was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 HMGCL Zornitza Stark gene: HMGCL was added
gene: HMGCL was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: HMGCL was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 HLCS Zornitza Stark gene: HLCS was added
gene: HLCS was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: HLCS was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 HIVEP2 Zornitza Stark gene: HIVEP2 was added
gene: HIVEP2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: HIVEP2 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 HIBCH Zornitza Stark gene: HIBCH was added
gene: HIBCH was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: HIBCH was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 HGSNAT Zornitza Stark gene: HGSNAT was added
gene: HGSNAT was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: HGSNAT was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 HEXB Zornitza Stark gene: HEXB was added
gene: HEXB was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: HEXB was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 HEXA Zornitza Stark gene: HEXA was added
gene: HEXA was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: HEXA was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 HESX1 Zornitza Stark gene: HESX1 was added
gene: HESX1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: HESX1 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 HERC2 Zornitza Stark gene: HERC2 was added
gene: HERC2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: HERC2 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 HEPACAM Zornitza Stark gene: HEPACAM was added
gene: HEPACAM was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: HEPACAM was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 HECW2 Zornitza Stark gene: HECW2 was added
gene: HECW2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: HECW2 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 HDAC8 Zornitza Stark gene: HDAC8 was added
gene: HDAC8 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: HDAC8 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 HDAC4 Zornitza Stark gene: HDAC4 was added
gene: HDAC4 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: HDAC4 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 HCN1 Zornitza Stark gene: HCN1 was added
gene: HCN1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: HCN1 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 HCFC1 Zornitza Stark gene: HCFC1 was added
gene: HCFC1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: HCFC1 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 HCCS Zornitza Stark gene: HCCS was added
gene: HCCS was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: HCCS was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 HAX1 Zornitza Stark gene: HAX1 was added
gene: HAX1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: HAX1 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 HAL Zornitza Stark gene: HAL was added
gene: HAL was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: HAL was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 HADHB Zornitza Stark gene: HADHB was added
gene: HADHB was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: HADHB was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 HADHA Zornitza Stark gene: HADHA was added
gene: HADHA was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: HADHA was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 H19 Zornitza Stark gene: H19 was added
gene: H19 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: H19 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 GYS2 Zornitza Stark gene: GYS2 was added
gene: GYS2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: GYS2 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 GUSB Zornitza Stark gene: GUSB was added
gene: GUSB was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: GUSB was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 GTF2IRD1 Zornitza Stark gene: GTF2IRD1 was added
gene: GTF2IRD1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: GTF2IRD1 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 GTF2I Zornitza Stark gene: GTF2I was added
gene: GTF2I was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: GTF2I was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 GSS Zornitza Stark gene: GSS was added
gene: GSS was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: GSS was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 GSPT2 Zornitza Stark gene: GSPT2 was added
gene: GSPT2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: GSPT2 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 GRPR Zornitza Stark gene: GRPR was added
gene: GRPR was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: GRPR was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 GRM1 Zornitza Stark gene: GRM1 was added
gene: GRM1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: GRM1 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 GRIN2B Zornitza Stark gene: GRIN2B was added
gene: GRIN2B was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: GRIN2B was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 GRIN2A Zornitza Stark gene: GRIN2A was added
gene: GRIN2A was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: GRIN2A was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 GRIN1 Zornitza Stark gene: GRIN1 was added
gene: GRIN1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: GRIN1 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 GRIK2 Zornitza Stark gene: GRIK2 was added
gene: GRIK2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: GRIK2 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 GRIA3 Zornitza Stark gene: GRIA3 was added
gene: GRIA3 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: GRIA3 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 GPSM2 Zornitza Stark gene: GPSM2 was added
gene: GPSM2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: GPSM2 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 GPHN Zornitza Stark gene: GPHN was added
gene: GPHN was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: GPHN was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 GOSR2 Zornitza Stark gene: GOSR2 was added
gene: GOSR2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: GOSR2 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 GORAB Zornitza Stark gene: GORAB was added
gene: GORAB was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: GORAB was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 GNS Zornitza Stark gene: GNS was added
gene: GNS was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: GNS was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 GNPTG Zornitza Stark gene: GNPTG was added
gene: GNPTG was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: GNPTG was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 GNPTAB Zornitza Stark gene: GNPTAB was added
gene: GNPTAB was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: GNPTAB was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 GNPAT Zornitza Stark gene: GNPAT was added
gene: GNPAT was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: GNPAT was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 GNE Zornitza Stark gene: GNE was added
gene: GNE was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: GNE was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 GNB1 Zornitza Stark gene: GNB1 was added
gene: GNB1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: GNB1 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 GNAS Zornitza Stark gene: GNAS was added
gene: GNAS was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: GNAS was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 GNAQ Zornitza Stark gene: GNAQ was added
gene: GNAQ was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: GNAQ was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 GNAO1 Zornitza Stark gene: GNAO1 was added
gene: GNAO1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: GNAO1 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 GNA14 Zornitza Stark gene: GNA14 was added
gene: GNA14 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: GNA14 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 GMPPB Zornitza Stark gene: GMPPB was added
gene: GMPPB was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: GMPPB was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 GMPPA Zornitza Stark gene: GMPPA was added
gene: GMPPA was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: GMPPA was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 GM2A Zornitza Stark gene: GM2A was added
gene: GM2A was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: GM2A was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 GLYCTK Zornitza Stark gene: GLYCTK was added
gene: GLYCTK was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: GLYCTK was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 GLUL Zornitza Stark gene: GLUL was added
gene: GLUL was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: GLUL was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 GLUD1 Zornitza Stark gene: GLUD1 was added
gene: GLUD1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: GLUD1 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 GLRA1 Zornitza Stark gene: GLRA1 was added
gene: GLRA1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: GLRA1 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 GLI3 Zornitza Stark gene: GLI3 was added
gene: GLI3 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: GLI3 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 GLI2 Zornitza Stark gene: GLI2 was added
gene: GLI2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: GLI2 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 GLDC Zornitza Stark gene: GLDC was added
gene: GLDC was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: GLDC was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 GLB1 Zornitza Stark gene: GLB1 was added
gene: GLB1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: GLB1 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 GK Zornitza Stark gene: GK was added
gene: GK was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: GK was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 GJC2 Zornitza Stark gene: GJC2 was added
gene: GJC2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: GJC2 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 GJB1 Zornitza Stark gene: GJB1 was added
gene: GJB1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: GJB1 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 GJA1 Zornitza Stark gene: GJA1 was added
gene: GJA1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: GJA1 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 GHR Zornitza Stark gene: GHR was added
gene: GHR was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: GHR was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 GFM1 Zornitza Stark gene: GFM1 was added
gene: GFM1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: GFM1 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 GFER Zornitza Stark gene: GFER was added
gene: GFER was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: GFER was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 GFAP Zornitza Stark gene: GFAP was added
gene: GFAP was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: GFAP was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 GDI1 Zornitza Stark gene: GDI1 was added
gene: GDI1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: GDI1 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 GCSH Zornitza Stark gene: GCSH was added
gene: GCSH was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: GCSH was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 GCK Zornitza Stark gene: GCK was added
gene: GCK was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: GCK was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 GCDH Zornitza Stark gene: GCDH was added
gene: GCDH was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: GCDH was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 GBE1 Zornitza Stark gene: GBE1 was added
gene: GBE1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: GBE1 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 GBA2 Zornitza Stark gene: GBA2 was added
gene: GBA2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: GBA2 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 GBA Zornitza Stark gene: GBA was added
gene: GBA was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: GBA was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 GATM Zornitza Stark gene: GATM was added
gene: GATM was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: GATM was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 GATAD2B Zornitza Stark gene: GATAD2B was added
gene: GATAD2B was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: GATAD2B was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 GATA6 Zornitza Stark gene: GATA6 was added
gene: GATA6 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: GATA6 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 GATA1 Zornitza Stark gene: GATA1 was added
gene: GATA1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: GATA1 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 GAN Zornitza Stark gene: GAN was added
gene: GAN was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: GAN was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 GAMT Zornitza Stark gene: GAMT was added
gene: GAMT was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: GAMT was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 GALT Zornitza Stark gene: GALT was added
gene: GALT was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: GALT was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 GALE Zornitza Stark gene: GALE was added
gene: GALE was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: GALE was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 GAD1 Zornitza Stark gene: GAD1 was added
gene: GAD1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: GAD1 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 GABRG2 Zornitza Stark gene: GABRG2 was added
gene: GABRG2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: GABRG2 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 GABRG1 Zornitza Stark gene: GABRG1 was added
gene: GABRG1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: GABRG1 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 GABRB3 Zornitza Stark gene: GABRB3 was added
gene: GABRB3 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: GABRB3 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 GABRA1 Zornitza Stark gene: GABRA1 was added
gene: GABRA1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: GABRA1 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 G6PC3 Zornitza Stark gene: G6PC3 was added
gene: G6PC3 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: G6PC3 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 FUCA1 Zornitza Stark gene: FUCA1 was added
gene: FUCA1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: FUCA1 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 FTSJ1 Zornitza Stark gene: FTSJ1 was added
gene: FTSJ1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: FTSJ1 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 FTO Zornitza Stark gene: FTO was added
gene: FTO was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: FTO was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 FTL Zornitza Stark gene: FTL was added
gene: FTL was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: FTL was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 FRMPD4 Zornitza Stark gene: FRMPD4 was added
gene: FRMPD4 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: FRMPD4 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 FRAS1 Zornitza Stark gene: FRAS1 was added
gene: FRAS1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: FRAS1 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 FOXRED1 Zornitza Stark gene: FOXRED1 was added
gene: FOXRED1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: FOXRED1 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 FOXP2 Zornitza Stark gene: FOXP2 was added
gene: FOXP2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: FOXP2 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 FOXP1 Zornitza Stark gene: FOXP1 was added
gene: FOXP1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: FOXP1 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 FOXG1 Zornitza Stark gene: FOXG1 was added
gene: FOXG1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: FOXG1 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 FOLR1 Zornitza Stark gene: FOLR1 was added
gene: FOLR1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: FOLR1 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 FMR1 Zornitza Stark gene: FMR1 was added
gene: FMR1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: FMR1 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 FMN2 Zornitza Stark gene: FMN2 was added
gene: FMN2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: FMN2 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 FLVCR1 Zornitza Stark gene: FLVCR1 was added
gene: FLVCR1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: FLVCR1 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 FLNB Zornitza Stark gene: FLNB was added
gene: FLNB was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: FLNB was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 FLNA Zornitza Stark gene: FLNA was added
gene: FLNA was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: FLNA was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 FKTN Zornitza Stark gene: FKTN was added
gene: FKTN was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: FKTN was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 FKRP Zornitza Stark gene: FKRP was added
gene: FKRP was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: FKRP was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 FIG4 Zornitza Stark gene: FIG4 was added
gene: FIG4 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: FIG4 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 FH Zornitza Stark gene: FH was added
gene: FH was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: FH was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 FGFR3 Zornitza Stark gene: FGFR3 was added
gene: FGFR3 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: FGFR3 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 FGFR2 Zornitza Stark gene: FGFR2 was added
gene: FGFR2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: FGFR2 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 FGFR1 Zornitza Stark gene: FGFR1 was added
gene: FGFR1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: FGFR1 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 FGF3 Zornitza Stark gene: FGF3 was added
gene: FGF3 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: FGF3 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 FGF14 Zornitza Stark gene: FGF14 was added
gene: FGF14 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: FGF14 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 FGD1 Zornitza Stark gene: FGD1 was added
gene: FGD1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: FGD1 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 FBXO31 Zornitza Stark gene: FBXO31 was added
gene: FBXO31 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: FBXO31 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 FBXL4 Zornitza Stark gene: FBXL4 was added
gene: FBXL4 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: FBXL4 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 FBN1 Zornitza Stark gene: FBN1 was added
gene: FBN1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: FBN1 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 FBLN5 Zornitza Stark gene: FBLN5 was added
gene: FBLN5 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: FBLN5 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 FAT4 Zornitza Stark gene: FAT4 was added
gene: FAT4 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: FAT4 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 FASTKD2 Zornitza Stark gene: FASTKD2 was added
gene: FASTKD2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: FASTKD2 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 FARS2 Zornitza Stark gene: FARS2 was added
gene: FARS2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: FARS2 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 FANCG Zornitza Stark gene: FANCG was added
gene: FANCG was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: FANCG was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 FANCD2 Zornitza Stark gene: FANCD2 was added
gene: FANCD2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: FANCD2 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 FANCB Zornitza Stark gene: FANCB was added
gene: FANCB was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: FANCB was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 FAM20C Zornitza Stark gene: FAM20C was added
gene: FAM20C was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: FAM20C was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 FAM126A Zornitza Stark gene: FAM126A was added
gene: FAM126A was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: FAM126A was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 FAM111A Zornitza Stark gene: FAM111A was added
gene: FAM111A was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: FAM111A was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 FAAH2 Zornitza Stark gene: FAAH2 was added
gene: FAAH2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: FAAH2 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 FA2H Zornitza Stark gene: FA2H was added
gene: FA2H was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: FA2H was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 EZH2 Zornitza Stark gene: EZH2 was added
gene: EZH2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: EZH2 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 EXT2 Zornitza Stark gene: EXT2 was added
gene: EXT2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: EXT2 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 EXOSC8 Zornitza Stark gene: EXOSC8 was added
gene: EXOSC8 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: EXOSC8 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 EXOSC3 Zornitza Stark gene: EXOSC3 was added
gene: EXOSC3 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: EXOSC3 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 EVC2 Zornitza Stark gene: EVC2 was added
gene: EVC2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: EVC2 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 EVC Zornitza Stark gene: EVC was added
gene: EVC was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: EVC was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 ESCO2 Zornitza Stark gene: ESCO2 was added
gene: ESCO2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: ESCO2 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 ERMARD Zornitza Stark gene: ERMARD was added
gene: ERMARD was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: ERMARD was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 ERLIN2 Zornitza Stark gene: ERLIN2 was added
gene: ERLIN2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: ERLIN2 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 ERF Zornitza Stark gene: ERF was added
gene: ERF was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: ERF was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 ERCC8 Zornitza Stark gene: ERCC8 was added
gene: ERCC8 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: ERCC8 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 ERCC6L2 Zornitza Stark gene: ERCC6L2 was added
gene: ERCC6L2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: ERCC6L2 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 ERCC6 Zornitza Stark gene: ERCC6 was added
gene: ERCC6 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: ERCC6 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 ERCC5 Zornitza Stark gene: ERCC5 was added
gene: ERCC5 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: ERCC5 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 ERCC4 Zornitza Stark gene: ERCC4 was added
gene: ERCC4 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: ERCC4 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 ERCC3 Zornitza Stark gene: ERCC3 was added
gene: ERCC3 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: ERCC3 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 ERCC2 Zornitza Stark gene: ERCC2 was added
gene: ERCC2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: ERCC2 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 ERCC1 Zornitza Stark gene: ERCC1 was added
gene: ERCC1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: ERCC1 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 EPM2A Zornitza Stark gene: EPM2A was added
gene: EPM2A was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: EPM2A was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 EPG5 Zornitza Stark gene: EPG5 was added
gene: EPG5 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: EPG5 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 EPB41L1 Zornitza Stark gene: EPB41L1 was added
gene: EPB41L1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: EPB41L1 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 EOMES Zornitza Stark gene: EOMES was added
gene: EOMES was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: EOMES was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 EOGT Zornitza Stark gene: EOGT was added
gene: EOGT was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: EOGT was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 EMX2 Zornitza Stark gene: EMX2 was added
gene: EMX2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: EMX2 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 ELOVL4 Zornitza Stark gene: ELOVL4 was added
gene: ELOVL4 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: ELOVL4 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 ELAC2 Zornitza Stark gene: ELAC2 was added
gene: ELAC2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: ELAC2 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 EIF4A3 Zornitza Stark gene: EIF4A3 was added
gene: EIF4A3 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: EIF4A3 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 EIF2S3 Zornitza Stark gene: EIF2S3 was added
gene: EIF2S3 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: EIF2S3 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 EIF2B5 Zornitza Stark gene: EIF2B5 was added
gene: EIF2B5 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: EIF2B5 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 EIF2B4 Zornitza Stark gene: EIF2B4 was added
gene: EIF2B4 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: EIF2B4 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 EIF2B3 Zornitza Stark gene: EIF2B3 was added
gene: EIF2B3 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: EIF2B3 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 EIF2B2 Zornitza Stark gene: EIF2B2 was added
gene: EIF2B2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: EIF2B2 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 EIF2B1 Zornitza Stark gene: EIF2B1 was added
gene: EIF2B1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: EIF2B1 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 EIF2AK3 Zornitza Stark gene: EIF2AK3 was added
gene: EIF2AK3 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: EIF2AK3 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 EHMT1 Zornitza Stark gene: EHMT1 was added
gene: EHMT1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: EHMT1 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 EFTUD2 Zornitza Stark gene: EFTUD2 was added
gene: EFTUD2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: EFTUD2 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 EFNB1 Zornitza Stark gene: EFNB1 was added
gene: EFNB1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: EFNB1 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 EEF1A2 Zornitza Stark gene: EEF1A2 was added
gene: EEF1A2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: EEF1A2 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 EBP Zornitza Stark gene: EBP was added
gene: EBP was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: EBP was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 EARS2 Zornitza Stark gene: EARS2 was added
gene: EARS2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: EARS2 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 DYRK1A Zornitza Stark gene: DYRK1A was added
gene: DYRK1A was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: DYRK1A was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 DYNC2H1 Zornitza Stark gene: DYNC2H1 was added
gene: DYNC2H1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: DYNC2H1 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 DYNC1H1 Zornitza Stark gene: DYNC1H1 was added
gene: DYNC1H1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: DYNC1H1 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 DYM Zornitza Stark gene: DYM was added
gene: DYM was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: DYM was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 DUOXA2 Zornitza Stark gene: DUOXA2 was added
gene: DUOXA2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: DUOXA2 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 DSE Zornitza Stark gene: DSE was added
gene: DSE was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: DSE was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 DPYS Zornitza Stark gene: DPYS was added
gene: DPYS was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: DPYS was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 DPYD Zornitza Stark gene: DPYD was added
gene: DPYD was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: DPYD was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 DPP6 Zornitza Stark gene: DPP6 was added
gene: DPP6 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: DPP6 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 DPP10 Zornitza Stark gene: DPP10 was added
gene: DPP10 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: DPP10 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 DPM3 Zornitza Stark gene: DPM3 was added
gene: DPM3 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: DPM3 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 DPM1 Zornitza Stark gene: DPM1 was added
gene: DPM1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: DPM1 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 DPH1 Zornitza Stark gene: DPH1 was added
gene: DPH1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: DPH1 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 DPAGT1 Zornitza Stark gene: DPAGT1 was added
gene: DPAGT1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: DPAGT1 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 DOK7 Zornitza Stark gene: DOK7 was added
gene: DOK7 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: DOK7 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 DOCK7 Zornitza Stark gene: DOCK7 was added
gene: DOCK7 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: DOCK7 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 DOCK6 Zornitza Stark gene: DOCK6 was added
gene: DOCK6 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: DOCK6 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 DOCK4 Zornitza Stark gene: DOCK4 was added
gene: DOCK4 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: DOCK4 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 DNMT3B Zornitza Stark gene: DNMT3B was added
gene: DNMT3B was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: DNMT3B was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 DNMT3A Zornitza Stark gene: DNMT3A was added
gene: DNMT3A was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: DNMT3A was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 DNM1L Zornitza Stark gene: DNM1L was added
gene: DNM1L was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: DNM1L was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 DNAJC6 Zornitza Stark gene: DNAJC6 was added
gene: DNAJC6 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: DNAJC6 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 DNAJC19 Zornitza Stark gene: DNAJC19 was added
gene: DNAJC19 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: DNAJC19 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 DMPK Zornitza Stark gene: DMPK was added
gene: DMPK was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: DMPK was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 DLK1 Zornitza Stark gene: DLK1 was added
gene: DLK1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: DLK1 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 DLGAP2 Zornitza Stark gene: DLGAP2 was added
gene: DLGAP2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: DLGAP2 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 DLG3 Zornitza Stark gene: DLG3 was added
gene: DLG3 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: DLG3 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 DLD Zornitza Stark gene: DLD was added
gene: DLD was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: DLD was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 DLAT Zornitza Stark gene: DLAT was added
gene: DLAT was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: DLAT was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 DKC1 Zornitza Stark gene: DKC1 was added
gene: DKC1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: DKC1 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 DISP1 Zornitza Stark gene: DISP1 was added
gene: DISP1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: DISP1 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 DIS3L2 Zornitza Stark gene: DIS3L2 was added
gene: DIS3L2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: DIS3L2 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 DIP2B Zornitza Stark gene: DIP2B was added
gene: DIP2B was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: DIP2B was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 DHTKD1 Zornitza Stark gene: DHTKD1 was added
gene: DHTKD1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: DHTKD1 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 DHFR Zornitza Stark gene: DHFR was added
gene: DHFR was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: DHFR was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 DHCR7 Zornitza Stark gene: DHCR7 was added
gene: DHCR7 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: DHCR7 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 DHCR24 Zornitza Stark gene: DHCR24 was added
gene: DHCR24 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: DHCR24 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 DEPDC5 Zornitza Stark gene: DEPDC5 was added
gene: DEPDC5 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: DEPDC5 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 DEAF1 Zornitza Stark gene: DEAF1 was added
gene: DEAF1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: DEAF1 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 DDX59 Zornitza Stark gene: DDX59 was added
gene: DDX59 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: DDX59 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 DDX3X Zornitza Stark gene: DDX3X was added
gene: DDX3X was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: DDX3X was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 DDX11 Zornitza Stark gene: DDX11 was added
gene: DDX11 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: DDX11 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 DDR2 Zornitza Stark gene: DDR2 was added
gene: DDR2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: DDR2 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 DDOST Zornitza Stark gene: DDOST was added
gene: DDOST was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: DDOST was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 DDHD2 Zornitza Stark gene: DDHD2 was added
gene: DDHD2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: DDHD2 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 DDC Zornitza Stark gene: DDC was added
gene: DDC was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: DDC was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 DCX Zornitza Stark gene: DCX was added
gene: DCX was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: DCX was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 DCHS1 Zornitza Stark gene: DCHS1 was added
gene: DCHS1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: DCHS1 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 DCAF17 Zornitza Stark gene: DCAF17 was added
gene: DCAF17 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: DCAF17 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 DBT Zornitza Stark gene: DBT was added
gene: DBT was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: DBT was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 DARS2 Zornitza Stark gene: DARS2 was added
gene: DARS2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: DARS2 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 DARS Zornitza Stark gene: DARS was added
gene: DARS was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: DARS was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 DAG1 Zornitza Stark gene: DAG1 was added
gene: DAG1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: DAG1 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 D2HGDH Zornitza Stark gene: D2HGDH was added
gene: D2HGDH was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: D2HGDH was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 CYP2U1 Zornitza Stark gene: CYP2U1 was added
gene: CYP2U1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: CYP2U1 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 CYP27A1 Zornitza Stark gene: CYP27A1 was added
gene: CYP27A1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: CYP27A1 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 CYFIP1 Zornitza Stark gene: CYFIP1 was added
gene: CYFIP1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: CYFIP1 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 CYC1 Zornitza Stark gene: CYC1 was added
gene: CYC1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: CYC1 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 CYB5R3 Zornitza Stark gene: CYB5R3 was added
gene: CYB5R3 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: CYB5R3 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 CUL4B Zornitza Stark gene: CUL4B was added
gene: CUL4B was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: CUL4B was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 CUBN Zornitza Stark gene: CUBN was added
gene: CUBN was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: CUBN was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 CTSF Zornitza Stark gene: CTSF was added
gene: CTSF was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: CTSF was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 CTSD Zornitza Stark gene: CTSD was added
gene: CTSD was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: CTSD was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 CTSA Zornitza Stark gene: CTSA was added
gene: CTSA was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: CTSA was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 CTNND2 Zornitza Stark gene: CTNND2 was added
gene: CTNND2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: CTNND2 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 CTNNB1 Zornitza Stark gene: CTNNB1 was added
gene: CTNNB1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: CTNNB1 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 CTDP1 Zornitza Stark gene: CTDP1 was added
gene: CTDP1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: CTDP1 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 CTCF Zornitza Stark gene: CTCF was added
gene: CTCF was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: CTCF was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 CTC1 Zornitza Stark gene: CTC1 was added
gene: CTC1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: CTC1 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 CSTB Zornitza Stark gene: CSTB was added
gene: CSTB was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: CSTB was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 CSPP1 Zornitza Stark gene: CSPP1 was added
gene: CSPP1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: CSPP1 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 CRTAP Zornitza Stark gene: CRTAP was added
gene: CRTAP was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: CRTAP was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 CRLF1 Zornitza Stark gene: CRLF1 was added
gene: CRLF1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: CRLF1 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 CRKL Zornitza Stark gene: CRKL was added
gene: CRKL was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: CRKL was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 CREBBP Zornitza Stark gene: CREBBP was added
gene: CREBBP was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: CREBBP was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 CRBN Zornitza Stark gene: CRBN was added
gene: CRBN was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: CRBN was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 CRADD Zornitza Stark gene: CRADD was added
gene: CRADD was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: CRADD was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 CPS1 Zornitza Stark gene: CPS1 was added
gene: CPS1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: CPS1 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 CPA6 Zornitza Stark gene: CPA6 was added
gene: CPA6 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: CPA6 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 COX7B Zornitza Stark gene: COX7B was added
gene: COX7B was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: COX7B was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 COX6B1 Zornitza Stark gene: COX6B1 was added
gene: COX6B1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: COX6B1 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 COX4I2 Zornitza Stark gene: COX4I2 was added
gene: COX4I2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: COX4I2 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 COX20 Zornitza Stark gene: COX20 was added
gene: COX20 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: COX20 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 COX15 Zornitza Stark gene: COX15 was added
gene: COX15 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: COX15 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 COX14 Zornitza Stark gene: COX14 was added
gene: COX14 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: COX14 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 COX10 Zornitza Stark gene: COX10 was added
gene: COX10 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: COX10 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 CORO1A Zornitza Stark gene: CORO1A was added
gene: CORO1A was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: CORO1A was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 COQ9 Zornitza Stark gene: COQ9 was added
gene: COQ9 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: COQ9 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 COQ2 Zornitza Stark gene: COQ2 was added
gene: COQ2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: COQ2 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 COLEC11 Zornitza Stark gene: COLEC11 was added
gene: COLEC11 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: COLEC11 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 COL4A3BP Zornitza Stark gene: COL4A3BP was added
gene: COL4A3BP was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: COL4A3BP was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 COL4A2 Zornitza Stark gene: COL4A2 was added
gene: COL4A2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: COL4A2 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 COL4A1 Zornitza Stark gene: COL4A1 was added
gene: COL4A1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: COL4A1 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 COL1A2 Zornitza Stark gene: COL1A2 was added
gene: COL1A2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: COL1A2 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 COL18A1 Zornitza Stark gene: COL18A1 was added
gene: COL18A1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: COL18A1 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 COG8 Zornitza Stark gene: COG8 was added
gene: COG8 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: COG8 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 COG7 Zornitza Stark gene: COG7 was added
gene: COG7 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: COG7 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 COG6 Zornitza Stark gene: COG6 was added
gene: COG6 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: COG6 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 COG5 Zornitza Stark gene: COG5 was added
gene: COG5 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: COG5 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 COG4 Zornitza Stark gene: COG4 was added
gene: COG4 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: COG4 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 COG1 Zornitza Stark gene: COG1 was added
gene: COG1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: COG1 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 COASY Zornitza Stark gene: COASY was added
gene: COASY was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: COASY was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 CNTNAP5 Zornitza Stark gene: CNTNAP5 was added
gene: CNTNAP5 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: CNTNAP5 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 CNTNAP2 Zornitza Stark gene: CNTNAP2 was added
gene: CNTNAP2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: CNTNAP2 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 CNTN4 Zornitza Stark gene: CNTN4 was added
gene: CNTN4 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: CNTN4 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 CNNM2 Zornitza Stark gene: CNNM2 was added
gene: CNNM2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: CNNM2 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 CNKSR2 Zornitza Stark gene: CNKSR2 was added
gene: CNKSR2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: CNKSR2 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 CLN8 Zornitza Stark gene: CLN8 was added
gene: CLN8 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: CLN8 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 CLN6 Zornitza Stark gene: CLN6 was added
gene: CLN6 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: CLN6 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 CLN5 Zornitza Stark gene: CLN5 was added
gene: CLN5 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: CLN5 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 CLN3 Zornitza Stark gene: CLN3 was added
gene: CLN3 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: CLN3 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 CLIP2 Zornitza Stark gene: CLIP2 was added
gene: CLIP2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: CLIP2 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 CLIC2 Zornitza Stark gene: CLIC2 was added
gene: CLIC2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: CLIC2 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 CLCNKB Zornitza Stark gene: CLCNKB was added
gene: CLCNKB was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: CLCNKB was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 CLCNKA Zornitza Stark gene: CLCNKA was added
gene: CLCNKA was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: CLCNKA was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 CLCN4 Zornitza Stark gene: CLCN4 was added
gene: CLCN4 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: CLCN4 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 CLCN2 Zornitza Stark gene: CLCN2 was added
gene: CLCN2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: CLCN2 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 CHST14 Zornitza Stark gene: CHST14 was added
gene: CHST14 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: CHST14 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 CHRNA4 Zornitza Stark gene: CHRNA4 was added
gene: CHRNA4 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: CHRNA4 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 CHMP1A Zornitza Stark gene: CHMP1A was added
gene: CHMP1A was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: CHMP1A was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 CHKB Zornitza Stark gene: CHKB was added
gene: CHKB was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: CHKB was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 CHD8 Zornitza Stark gene: CHD8 was added
gene: CHD8 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: CHD8 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 CHD7 Zornitza Stark gene: CHD7 was added
gene: CHD7 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: CHD7 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 CHD2 Zornitza Stark gene: CHD2 was added
gene: CHD2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: CHD2 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 CHAMP1 Zornitza Stark gene: CHAMP1 was added
gene: CHAMP1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: CHAMP1 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 CFHR3 Zornitza Stark gene: CFHR3 was added
gene: CFHR3 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: CFHR3 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 CFHR1 Zornitza Stark gene: CFHR1 was added
gene: CFHR1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: CFHR1 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 CFH Zornitza Stark gene: CFH was added
gene: CFH was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: CFH was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 CEP89 Zornitza Stark gene: CEP89 was added
gene: CEP89 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: CEP89 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 CEP63 Zornitza Stark gene: CEP63 was added
gene: CEP63 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: CEP63 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 CEP57 Zornitza Stark gene: CEP57 was added
gene: CEP57 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: CEP57 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 CEP41 Zornitza Stark gene: CEP41 was added
gene: CEP41 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: CEP41 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 CEP290 Zornitza Stark gene: CEP290 was added
gene: CEP290 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: CEP290 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 CEP152 Zornitza Stark gene: CEP152 was added
gene: CEP152 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: CEP152 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 CEP135 Zornitza Stark gene: CEP135 was added
gene: CEP135 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: CEP135 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 CENPJ Zornitza Stark gene: CENPJ was added
gene: CENPJ was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: CENPJ was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 ADA2 Zornitza Stark gene: ADA2 was added
gene: ADA2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: ADA2 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 CDON Zornitza Stark gene: CDON was added
gene: CDON was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: CDON was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 CDKN1C Zornitza Stark gene: CDKN1C was added
gene: CDKN1C was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: CDKN1C was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 CDKL5 Zornitza Stark gene: CDKL5 was added
gene: CDKL5 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: CDKL5 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 CDK6 Zornitza Stark gene: CDK6 was added
gene: CDK6 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: CDK6 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 CDK5RAP2 Zornitza Stark gene: CDK5RAP2 was added
gene: CDK5RAP2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: CDK5RAP2 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 CDK16 Zornitza Stark gene: CDK16 was added
gene: CDK16 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: CDK16 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 CDH15 Zornitza Stark gene: CDH15 was added
gene: CDH15 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: CDH15 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 CDC6 Zornitza Stark gene: CDC6 was added
gene: CDC6 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: CDC6 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 CDC42 Zornitza Stark gene: CDC42 was added
gene: CDC42 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: CDC42 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 CD96 Zornitza Stark gene: CD96 was added
gene: CD96 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: CD96 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 CCND2 Zornitza Stark gene: CCND2 was added
gene: CCND2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: CCND2 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 CCDC88C Zornitza Stark gene: CCDC88C was added
gene: CCDC88C was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: CCDC88C was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 CCDC78 Zornitza Stark gene: CCDC78 was added
gene: CCDC78 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: CCDC78 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 CCDC22 Zornitza Stark gene: CCDC22 was added
gene: CCDC22 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: CCDC22 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 CCBE1 Zornitza Stark gene: CCBE1 was added
gene: CCBE1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: CCBE1 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 CC2D2A Zornitza Stark gene: CC2D2A was added
gene: CC2D2A was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: CC2D2A was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 CC2D1A Zornitza Stark gene: CC2D1A was added
gene: CC2D1A was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: CC2D1A was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 CBS Zornitza Stark gene: CBS was added
gene: CBS was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: CBS was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 CBL Zornitza Stark gene: CBL was added
gene: CBL was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: CBL was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 CASK Zornitza Stark gene: CASK was added
gene: CASK was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: CASK was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 CANT1 Zornitza Stark gene: CANT1 was added
gene: CANT1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: CANT1 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 CAMTA1 Zornitza Stark gene: CAMTA1 was added
gene: CAMTA1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: CAMTA1 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 CACNG2 Zornitza Stark gene: CACNG2 was added
gene: CACNG2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: CACNG2 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 CACNA1G Zornitza Stark gene: CACNA1G was added
gene: CACNA1G was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: CACNA1G was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 CACNA1D Zornitza Stark gene: CACNA1D was added
gene: CACNA1D was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: CACNA1D was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 CACNA1C Zornitza Stark gene: CACNA1C was added
gene: CACNA1C was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: CACNA1C was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 CACNA1A Zornitza Stark gene: CACNA1A was added
gene: CACNA1A was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: CACNA1A was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 CA8 Zornitza Stark gene: CA8 was added
gene: CA8 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: CA8 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 CA5A Zornitza Stark gene: CA5A was added
gene: CA5A was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: CA5A was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 CA2 Zornitza Stark gene: CA2 was added
gene: CA2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: CA2 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 C5orf42 Zornitza Stark gene: C5orf42 was added
gene: C5orf42 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: C5orf42 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 C19orf12 Zornitza Stark gene: C19orf12 was added
gene: C19orf12 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: C19orf12 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 C12orf65 Zornitza Stark gene: C12orf65 was added
gene: C12orf65 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: C12orf65 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 C12orf57 Zornitza Stark gene: C12orf57 was added
gene: C12orf57 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: C12orf57 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 TWNK Zornitza Stark gene: TWNK was added
gene: TWNK was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: TWNK was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 BUB1B Zornitza Stark gene: BUB1B was added
gene: BUB1B was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: BUB1B was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 BTD Zornitza Stark gene: BTD was added
gene: BTD was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: BTD was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 BSND Zornitza Stark gene: BSND was added
gene: BSND was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: BSND was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 BSCL2 Zornitza Stark gene: BSCL2 was added
gene: BSCL2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: BSCL2 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 BRWD3 Zornitza Stark gene: BRWD3 was added
gene: BRWD3 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: BRWD3 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 BRIP1 Zornitza Stark gene: BRIP1 was added
gene: BRIP1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: BRIP1 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 BRAF Zornitza Stark gene: BRAF was added
gene: BRAF was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: BRAF was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 BOLA3 Zornitza Stark gene: BOLA3 was added
gene: BOLA3 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: BOLA3 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 BMPER Zornitza Stark gene: BMPER was added
gene: BMPER was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: BMPER was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 BMP4 Zornitza Stark gene: BMP4 was added
gene: BMP4 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: BMP4 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 BLM Zornitza Stark gene: BLM was added
gene: BLM was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: BLM was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 BIN1 Zornitza Stark gene: BIN1 was added
gene: BIN1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: BIN1 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 BICD2 Zornitza Stark gene: BICD2 was added
gene: BICD2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: BICD2 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 BDNF Zornitza Stark gene: BDNF was added
gene: BDNF was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: BDNF was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 BCS1L Zornitza Stark gene: BCS1L was added
gene: BCS1L was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: BCS1L was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 BCOR Zornitza Stark gene: BCOR was added
gene: BCOR was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: BCOR was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 BCL11A Zornitza Stark gene: BCL11A was added
gene: BCL11A was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: BCL11A was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 BCKDHB Zornitza Stark gene: BCKDHB was added
gene: BCKDHB was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: BCKDHB was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 BCKDHA Zornitza Stark gene: BCKDHA was added
gene: BCKDHA was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: BCKDHA was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 BCAP31 Zornitza Stark gene: BCAP31 was added
gene: BCAP31 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: BCAP31 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 BBS9 Zornitza Stark gene: BBS9 was added
gene: BBS9 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: BBS9 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 BBS7 Zornitza Stark gene: BBS7 was added
gene: BBS7 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: BBS7 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 BBS5 Zornitza Stark gene: BBS5 was added
gene: BBS5 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: BBS5 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 BBS4 Zornitza Stark gene: BBS4 was added
gene: BBS4 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: BBS4 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 BBS2 Zornitza Stark gene: BBS2 was added
gene: BBS2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: BBS2 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 BBS12 Zornitza Stark gene: BBS12 was added
gene: BBS12 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: BBS12 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 BBS10 Zornitza Stark gene: BBS10 was added
gene: BBS10 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: BBS10 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 BBS1 Zornitza Stark gene: BBS1 was added
gene: BBS1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: BBS1 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 BBIP1 Zornitza Stark gene: BBIP1 was added
gene: BBIP1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: BBIP1 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 B9D2 Zornitza Stark gene: B9D2 was added
gene: B9D2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: B9D2 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 B9D1 Zornitza Stark gene: B9D1 was added
gene: B9D1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: B9D1 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 B4GALT7 Zornitza Stark gene: B4GALT7 was added
gene: B4GALT7 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: B4GALT7 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 B4GALT1 Zornitza Stark gene: B4GALT1 was added
gene: B4GALT1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: B4GALT1 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 B3GAT3 Zornitza Stark gene: B3GAT3 was added
gene: B3GAT3 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: B3GAT3 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 B3GALT6 Zornitza Stark gene: B3GALT6 was added
gene: B3GALT6 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: B3GALT6 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 B3GALNT2 Zornitza Stark gene: B3GALNT2 was added
gene: B3GALNT2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: B3GALNT2 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 AVPR2 Zornitza Stark gene: AVPR2 was added
gene: AVPR2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: AVPR2 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 AVPR1A Zornitza Stark gene: AVPR1A was added
gene: AVPR1A was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: AVPR1A was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 AVP Zornitza Stark gene: AVP was added
gene: AVP was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: AVP was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 AUTS2 Zornitza Stark gene: AUTS2 was added
gene: AUTS2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: AUTS2 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 AUH Zornitza Stark gene: AUH was added
gene: AUH was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: AUH was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 ATXN10 Zornitza Stark gene: ATXN10 was added
gene: ATXN10 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: ATXN10 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 ATRX Zornitza Stark gene: ATRX was added
gene: ATRX was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: ATRX was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 ATR Zornitza Stark gene: ATR was added
gene: ATR was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: ATR was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 ATP8A2 Zornitza Stark gene: ATP8A2 was added
gene: ATP8A2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: ATP8A2 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 ATP7A Zornitza Stark gene: ATP7A was added
gene: ATP7A was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: ATP7A was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 ATP6V0A2 Zornitza Stark gene: ATP6V0A2 was added
gene: ATP6V0A2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: ATP6V0A2 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 ATP6AP2 Zornitza Stark gene: ATP6AP2 was added
gene: ATP6AP2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: ATP6AP2 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 ATP2B3 Zornitza Stark gene: ATP2B3 was added
gene: ATP2B3 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: ATP2B3 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 ATP2A2 Zornitza Stark gene: ATP2A2 was added
gene: ATP2A2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: ATP2A2 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 ATP1A3 Zornitza Stark gene: ATP1A3 was added
gene: ATP1A3 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: ATP1A3 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 ATP1A2 Zornitza Stark gene: ATP1A2 was added
gene: ATP1A2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: ATP1A2 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 ATP13A2 Zornitza Stark gene: ATP13A2 was added
gene: ATP13A2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: ATP13A2 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 ATP10A Zornitza Stark gene: ATP10A was added
gene: ATP10A was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: ATP10A was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 ATL1 Zornitza Stark gene: ATL1 was added
gene: ATL1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: ATL1 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 ATIC Zornitza Stark gene: ATIC was added
gene: ATIC was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: ATIC was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 ASXL3 Zornitza Stark gene: ASXL3 was added
gene: ASXL3 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: ASXL3 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 ASXL1 Zornitza Stark gene: ASXL1 was added
gene: ASXL1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: ASXL1 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 ASS1 Zornitza Stark gene: ASS1 was added
gene: ASS1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: ASS1 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 ASPM Zornitza Stark gene: ASPM was added
gene: ASPM was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: ASPM was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 ASPA Zornitza Stark gene: ASPA was added
gene: ASPA was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: ASPA was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 ASNS Zornitza Stark gene: ASNS was added
gene: ASNS was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: ASNS was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 ASL Zornitza Stark gene: ASL was added
gene: ASL was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: ASL was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 ASAH1 Zornitza Stark gene: ASAH1 was added
gene: ASAH1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: ASAH1 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 ARX Zornitza Stark gene: ARX was added
gene: ARX was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: ARX was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 ARSE Zornitza Stark gene: ARSE was added
gene: ARSE was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: ARSE was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 ARNT2 Zornitza Stark gene: ARNT2 was added
gene: ARNT2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: ARNT2 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 ARL6 Zornitza Stark gene: ARL6 was added
gene: ARL6 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: ARL6 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 ARID1B Zornitza Stark gene: ARID1B was added
gene: ARID1B was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: ARID1B was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 ARID1A Zornitza Stark gene: ARID1A was added
gene: ARID1A was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: ARID1A was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 ARHGEF9 Zornitza Stark gene: ARHGEF9 was added
gene: ARHGEF9 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: ARHGEF9 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 ARHGEF6 Zornitza Stark gene: ARHGEF6 was added
gene: ARHGEF6 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: ARHGEF6 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 ARHGAP31 Zornitza Stark gene: ARHGAP31 was added
gene: ARHGAP31 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: ARHGAP31 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 ARG1 Zornitza Stark gene: ARG1 was added
gene: ARG1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: ARG1 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 ARFGEF2 Zornitza Stark gene: ARFGEF2 was added
gene: ARFGEF2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: ARFGEF2 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 AR Zornitza Stark gene: AR was added
gene: AR was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: AR was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 AP4S1 Zornitza Stark gene: AP4S1 was added
gene: AP4S1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: AP4S1 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 AP4M1 Zornitza Stark gene: AP4M1 was added
gene: AP4M1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: AP4M1 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 AP4E1 Zornitza Stark gene: AP4E1 was added
gene: AP4E1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: AP4E1 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 AP4B1 Zornitza Stark gene: AP4B1 was added
gene: AP4B1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: AP4B1 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 AP3B1 Zornitza Stark gene: AP3B1 was added
gene: AP3B1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: AP3B1 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 AP1S2 Zornitza Stark gene: AP1S2 was added
gene: AP1S2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: AP1S2 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 AP1S1 Zornitza Stark gene: AP1S1 was added
gene: AP1S1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: AP1S1 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 ANK3 Zornitza Stark gene: ANK3 was added
gene: ANK3 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: ANK3 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 AMT Zornitza Stark gene: AMT was added
gene: AMT was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: AMT was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 AMPD2 Zornitza Stark gene: AMPD2 was added
gene: AMPD2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: AMPD2 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 AMER1 Zornitza Stark gene: AMER1 was added
gene: AMER1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: AMER1 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 ALX4 Zornitza Stark gene: ALX4 was added
gene: ALX4 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: ALX4 was set to Unknown