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Intellectual disability syndromic and non-syndromic v0.2684 C16orf62 Zornitza Stark Marked gene: C16orf62 as ready
Intellectual disability syndromic and non-syndromic v0.2684 C16orf62 Zornitza Stark Gene: c16orf62 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.2684 C16orf62 Zornitza Stark Classified gene: C16orf62 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.2684 C16orf62 Zornitza Stark Gene: c16orf62 has been classified as Amber List (Moderate Evidence).
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 Marked gene: PPP1CB as ready
Intellectual disability syndromic and non-syndromic v0.2682 PPP1CB Zornitza Stark Gene: ppp1cb has been classified as Green List (High Evidence).
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 v0.2681 PPP1CB Zornitza Stark Publications for gene: PPP1CB were set to
Intellectual disability syndromic and non-syndromic v0.2680 PPP1CB Zornitza Stark Mode of inheritance for gene: PPP1CB was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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 Marked gene: RBL2 as ready
Intellectual disability syndromic and non-syndromic v0.2679 RBL2 Zornitza Stark Gene: rbl2 has been classified as Red List (Low Evidence).
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 v0.2678 GRM7 Zornitza Stark Marked gene: GRM7 as ready
Intellectual disability syndromic and non-syndromic v0.2678 GRM7 Zornitza Stark Gene: grm7 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2678 GRM7 Zornitza Stark Classified gene: GRM7 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.2678 GRM7 Zornitza Stark Gene: grm7 has been classified as Green List (High Evidence).
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 DSCR3 Zornitza Stark Marked gene: DSCR3 as ready
Intellectual disability syndromic and non-syndromic v0.2676 DSCR3 Zornitza Stark Gene: dscr3 has been classified as Red List (Low Evidence).
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 v0.2675 OTUD7A Zornitza Stark Publications for gene: OTUD7A were set to PMID: 31997314
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 v0.2674 OTUD7A Zornitza Stark Marked gene: OTUD7A as ready
Intellectual disability syndromic and non-syndromic v0.2674 OTUD7A Zornitza Stark Gene: otud7a has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.2674 GATAD2B Zornitza Stark Marked gene: GATAD2B as ready
Intellectual disability syndromic and non-syndromic v0.2674 GATAD2B Zornitza Stark Gene: gatad2b has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2674 GATAD2B Zornitza Stark Phenotypes for gene: GATAD2B were changed from to Mental retardation, autosomal dominant 18, OMIM # 615074
Intellectual disability syndromic and non-syndromic v0.2673 GATAD2B Zornitza Stark Publications for gene: GATAD2B were set to
Intellectual disability syndromic and non-syndromic v0.2672 GATAD2B Zornitza Stark Mode of inheritance for gene: GATAD2B was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.2671 KMT2D Zornitza Stark Marked gene: KMT2D as ready
Intellectual disability syndromic and non-syndromic v0.2671 KMT2D Zornitza Stark Gene: kmt2d has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2671 KMT2D Zornitza Stark Phenotypes for gene: KMT2D were changed from Kabuki syndrome 1, MIM# 147920; KMT2D-associated syndrome to Kabuki syndrome 1, MIM# 147920; KMT2D-associated syndrome
Intellectual disability syndromic and non-syndromic v0.2671 KMT2D Zornitza Stark Phenotypes for gene: KMT2D were changed from Kabuki syndrome 1, MIM# 147920; KMT2D-associated neurodevelopmental syndrome to Kabuki syndrome 1, MIM# 147920; KMT2D-associated syndrome
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 v0.2670 KMT2D Zornitza Stark Phenotypes for gene: KMT2D were changed from to Kabuki syndrome 1, MIM# 147920; KMT2D-associated neurodevelopmental syndrome
Intellectual disability syndromic and non-syndromic v0.2669 KMT2D Zornitza Stark Publications for gene: KMT2D were set to
Intellectual disability syndromic and non-syndromic v0.2668 KMT2D Zornitza Stark Mode of inheritance for gene: KMT2D was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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 v0.2667 COG4 Zornitza Stark Publications for gene: COG4 were set to
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 v0.2663 ARL13B Zornitza Stark Marked gene: ARL13B as ready
Intellectual disability syndromic and non-syndromic v0.2663 ARL13B Zornitza Stark Gene: arl13b has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2663 ARL13B Zornitza Stark Phenotypes for gene: ARL13B were changed from to Joubert syndrome 8, MIM# 612291
Intellectual disability syndromic and non-syndromic v0.2662 ARL13B Zornitza Stark Publications for gene: ARL13B were set to
Intellectual disability syndromic and non-syndromic v0.2661 ARL13B Zornitza Stark Mode of inheritance for gene: ARL13B was changed from Unknown to 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 v0.2660 TTC5 Zornitza Stark Marked gene: TTC5 as ready
Intellectual disability syndromic and non-syndromic v0.2660 TTC5 Zornitza Stark Gene: ttc5 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2660 TTC5 Zornitza Stark Classified gene: TTC5 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.2660 TTC5 Zornitza Stark Gene: ttc5 has been classified as Green List (High Evidence).
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.

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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 v0.2659 SOX6 Zornitza Stark Marked gene: SOX6 as ready
Intellectual disability syndromic and non-syndromic v0.2659 SOX6 Zornitza Stark Added comment: Comment when marking as ready: Most individuals had ID, ranging from mild to severe.
Intellectual disability syndromic and non-syndromic v0.2659 SOX6 Zornitza Stark Gene: sox6 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2659 SOX6 Zornitza Stark Classified gene: SOX6 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.2659 SOX6 Zornitza Stark Gene: sox6 has been classified as Green List (High Evidence).
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 v0.2658 HIST1H4J Sue White Classified gene: HIST1H4J as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.2658 HIST1H4J Sue White Gene: hist1h4j has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.2657 HIST1H4J Sue White Marked gene: HIST1H4J as ready
Intellectual disability syndromic and non-syndromic v0.2657 HIST1H4J Sue White Gene: hist1h4j has been classified as Red List (Low Evidence).
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 v0.2656 ADAM22 Zornitza Stark Classified gene: ADAM22 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.2656 ADAM22 Zornitza Stark Gene: adam22 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.2655 ADAM22 Zornitza Stark Marked gene: ADAM22 as ready
Intellectual disability syndromic and non-syndromic v0.2655 ADAM22 Zornitza Stark Gene: adam22 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.2655 RAX Zornitza Stark Marked gene: RAX as ready
Intellectual disability syndromic and non-syndromic v0.2655 RAX Zornitza Stark Gene: rax has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.2655 TUBA8 Zornitza Stark Marked gene: TUBA8 as ready
Intellectual disability syndromic and non-syndromic v0.2655 TUBA8 Zornitza Stark Gene: tuba8 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.2655 XIST Zornitza Stark Marked gene: XIST as ready
Intellectual disability syndromic and non-syndromic v0.2655 XIST Zornitza Stark Gene: xist has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.2655 WFS1 Zornitza Stark Marked gene: WFS1 as ready
Intellectual disability syndromic and non-syndromic v0.2655 WFS1 Zornitza Stark Gene: wfs1 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.2655 RBM10 Zornitza Stark Marked gene: RBM10 as ready
Intellectual disability syndromic and non-syndromic v0.2655 RBM10 Zornitza Stark Gene: rbm10 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2655 RBM10 Zornitza Stark Phenotypes for gene: RBM10 were changed from to TARP syndrome, 311900 (3), X-linked recessive
Intellectual disability syndromic and non-syndromic v0.2654 RBM10 Zornitza Stark Publications for gene: RBM10 were set to
Intellectual disability syndromic and non-syndromic v0.2653 RBM10 Zornitza Stark Mode of inheritance for gene: RBM10 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
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 v0.2652 MADD Zornitza Stark Marked gene: MADD as ready
Intellectual disability syndromic and non-syndromic v0.2652 MADD Zornitza Stark Gene: madd has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2652 MADD Zornitza Stark Phenotypes for gene: MADD were changed from to intellectual disability
Intellectual disability syndromic and non-syndromic v0.2651 MADD Zornitza Stark Publications for gene: MADD were set to
Intellectual disability syndromic and non-syndromic v0.2650 MADD Zornitza Stark Mode of inheritance for gene: MADD was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2649 DHX30 Zornitza Stark Marked gene: DHX30 as ready
Intellectual disability syndromic and non-syndromic v0.2649 DHX30 Zornitza Stark Gene: dhx30 has been classified as Green List (High Evidence).
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 v0.2648 DHX30 Zornitza Stark Publications for gene: DHX30 were set to
Intellectual disability syndromic and non-syndromic v0.2647 DHX30 Zornitza Stark Mode of inheritance for gene: DHX30 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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 v0.2646 JARID2 Zornitza Stark Marked gene: JARID2 as ready
Intellectual disability syndromic and non-syndromic v0.2646 JARID2 Zornitza Stark Gene: jarid2 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.2646 JARID2 Zornitza Stark Classified gene: JARID2 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.2646 JARID2 Zornitza Stark Gene: jarid2 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.2645 JARID2 Zornitza Stark gene: JARID2 was added
gene: JARID2 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review
Mode of inheritance for gene: JARID2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: JARID2 were set to 23294540
Phenotypes for gene: JARID2 were set to Intellectual disability
Review for gene: JARID2 was set to AMBER
Added comment: Emerging evidence, mostly based on CNV data to date.
Sources: Expert Review
Intellectual disability syndromic and non-syndromic v0.2644 TRIP12 Zornitza Stark Marked gene: TRIP12 as ready
Intellectual disability syndromic and non-syndromic v0.2644 TRIP12 Zornitza Stark Gene: trip12 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2644 TRIP12 Zornitza Stark Phenotypes for gene: TRIP12 were changed from to Mental retardation autosomal dominant 49, Clark-Baraitser Syndrome, MIM#617752
Intellectual disability syndromic and non-syndromic v0.2643 TRIP12 Zornitza Stark Publications for gene: TRIP12 were set to 27848077; 28251352
Intellectual disability syndromic and non-syndromic v0.2643 TRIP12 Zornitza Stark Publications for gene: TRIP12 were set to
Intellectual disability syndromic and non-syndromic v0.2642 TRIP12 Zornitza Stark Mode of inheritance for gene: TRIP12 was changed from Unknown to 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 v0.2641 B9D1 Zornitza Stark Classified gene: B9D1 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.2641 B9D1 Zornitza Stark Gene: b9d1 has been classified as Amber List (Moderate Evidence).
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 v0.2640 PACS1 Zornitza Stark Marked gene: PACS1 as ready
Intellectual disability syndromic and non-syndromic v0.2640 PACS1 Zornitza Stark Gene: pacs1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2640 PACS1 Zornitza Stark Phenotypes for gene: PACS1 were changed from to Schuurs-Hoeijmakers syndrome (MIM# 615009)
Intellectual disability syndromic and non-syndromic v0.2639 PACS1 Zornitza Stark Publications for gene: PACS1 were set to
Intellectual disability syndromic and non-syndromic v0.2638 PACS1 Zornitza Stark Mode of inheritance for gene: PACS1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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 v0.2637 IQSEC3 Zornitza Stark Phenotypes for gene: IQSEC3 were changed from Intellectual disability to Intellectual disability; Fetal akinesia
Intellectual disability syndromic and non-syndromic v0.2636 IQSEC3 Zornitza Stark Publications for gene: IQSEC3 were set to 31130284
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 v0.2635 PRKD1 Zornitza Stark Marked gene: PRKD1 as ready
Intellectual disability syndromic and non-syndromic v0.2635 PRKD1 Zornitza Stark Gene: prkd1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2635 PRKD1 Zornitza Stark Phenotypes for gene: PRKD1 were changed from to Congenital heart defects and ectodermal dysplasia, 617364
Intellectual disability syndromic and non-syndromic v0.2634 PRKD1 Zornitza Stark Publications for gene: PRKD1 were set to
Intellectual disability syndromic and non-syndromic v0.2633 PRKD1 Zornitza Stark Mode of inheritance for gene: PRKD1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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 v0.2632 NR4A2 Zornitza Stark Marked gene: NR4A2 as ready
Intellectual disability syndromic and non-syndromic v0.2632 NR4A2 Zornitza Stark Added comment: Comment when marking as ready: Upgrade to Green in view of new publication reporting 9 additional individuals.
Intellectual disability syndromic and non-syndromic v0.2632 NR4A2 Zornitza Stark Gene: nr4a2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2632 NR4A2 Zornitza Stark Classified gene: NR4A2 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.2632 NR4A2 Zornitza Stark Gene: nr4a2 has been classified as Green List (High Evidence).
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 Marked gene: CUL3 as ready
Intellectual disability syndromic and non-syndromic v0.2631 CUL3 Zornitza Stark Gene: cul3 has been classified as Green List (High Evidence).
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 v0.2630 CUL3 Zornitza Stark Classified gene: CUL3 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.2630 CUL3 Zornitza Stark Gene: cul3 has been classified as Green List (High Evidence).
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.
--
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 v0.2628 UGDH Zornitza Stark Marked gene: UGDH as ready
Intellectual disability syndromic and non-syndromic v0.2628 UGDH Zornitza Stark Gene: ugdh has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2628 UGDH Zornitza Stark Classified gene: UGDH as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.2628 UGDH Zornitza Stark Gene: ugdh has been classified as Green List (High Evidence).
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 v0.2627 SPTBN4 Zornitza Stark Marked gene: SPTBN4 as ready
Intellectual disability syndromic and non-syndromic v0.2627 SPTBN4 Zornitza Stark Gene: sptbn4 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2627 SPTBN4 Zornitza Stark Classified gene: SPTBN4 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.2627 SPTBN4 Zornitza Stark Gene: sptbn4 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2626 YIF1B Zornitza Stark Marked gene: YIF1B as ready
Intellectual disability syndromic and non-syndromic v0.2626 YIF1B Zornitza Stark Gene: yif1b has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2626 YIF1B Zornitza Stark Classified gene: YIF1B as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.2626 YIF1B Zornitza Stark Gene: yif1b has been classified as Green List (High Evidence).
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 v0.2625 TNRC6B Zornitza Stark Phenotypes for gene: TNRC6B were changed from to Global developmental delay; Intellectual disability; Autistic behavior
Intellectual disability syndromic and non-syndromic v0.2624 TNRC6B Zornitza Stark Publications for gene: TNRC6B were set to
Intellectual disability syndromic and non-syndromic v0.2623 TNRC6B Zornitza Stark Mode of inheritance for gene: TNRC6B was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.2622 TNRC6B Zornitza Stark Classified gene: TNRC6B as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.2622 TNRC6B Zornitza Stark Gene: tnrc6b has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2621 CDC42BPB Zornitza Stark Marked gene: CDC42BPB as ready
Intellectual disability syndromic and non-syndromic v0.2621 CDC42BPB Zornitza Stark Gene: cdc42bpb has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2621 CDC42BPB Zornitza Stark Mode of inheritance for gene: CDC42BPB was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.2620 CDC42BPB Zornitza Stark Classified gene: CDC42BPB as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.2620 CDC42BPB Zornitza Stark Gene: cdc42bpb has been classified as Green List (High Evidence).
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 v0.2619 ARMC9 Zornitza Stark Marked gene: ARMC9 as ready
Intellectual disability syndromic and non-syndromic v0.2619 ARMC9 Zornitza Stark Gene: armc9 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2619 ARMC9 Zornitza Stark Phenotypes for gene: ARMC9 were changed from Joubert syndrome 30, MIM# 617622 to Joubert syndrome 30, MIM# 617622
Intellectual disability syndromic and non-syndromic v0.2618 ARMC9 Zornitza Stark Phenotypes for gene: ARMC9 were changed from to Joubert syndrome 30, MIM# 617622
Intellectual disability syndromic and non-syndromic v0.2617 ARMC9 Zornitza Stark Publications for gene: ARMC9 were set to
Intellectual disability syndromic and non-syndromic v0.2616 ARMC9 Zornitza Stark Mode of inheritance for gene: ARMC9 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
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 Marked gene: DARS as ready
Intellectual disability syndromic and non-syndromic v0.2615 DARS Zornitza Stark Gene: dars has been classified as Green List (High Evidence).
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 v0.2614 DARS Zornitza Stark Publications for gene: DARS were set to
Intellectual disability syndromic and non-syndromic v0.2613 DARS Zornitza Stark Mode of inheritance for gene: DARS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2612 DARS Zornitza Stark Tag new gene name tag was added to gene: DARS.
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 v0.2612 ARID1B Zornitza Stark Marked gene: ARID1B as ready
Intellectual disability syndromic and non-syndromic v0.2612 ARID1B Zornitza Stark Gene: arid1b has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2612 ARID1B Zornitza Stark Phenotypes for gene: ARID1B were changed from to Coffin-Siris syndrome 1, MIM 135900
Intellectual disability syndromic and non-syndromic v0.2611 ARID1B Zornitza Stark Publications for gene: ARID1B were set to
Intellectual disability syndromic and non-syndromic v0.2610 ARID1B Zornitza Stark Mode of inheritance for gene: ARID1B was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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 v0.2609 EMX2 Zornitza Stark Tag disputed tag was added to gene: EMX2.
Intellectual disability syndromic and non-syndromic v0.2609 EMX2 Zornitza Stark Marked gene: EMX2 as ready
Intellectual disability syndromic and non-syndromic v0.2609 EMX2 Zornitza Stark Gene: emx2 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.2609 EMX2 Zornitza Stark Phenotypes for gene: EMX2 were changed from to Schizencephaly, MIM# 269160
Intellectual disability syndromic and non-syndromic v0.2608 EMX2 Zornitza Stark Publications for gene: EMX2 were set to
Intellectual disability syndromic and non-syndromic v0.2607 EMX2 Zornitza Stark Mode of inheritance for gene: EMX2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.2606 EMX2 Zornitza Stark Classified gene: EMX2 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.2606 EMX2 Zornitza Stark Gene: emx2 has been classified as Amber List (Moderate Evidence).
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 v0.2604 ATAD3A Zornitza Stark Publications for gene: ATAD3A were set to 27640307; 32004445
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 v0.2602 MN1 Zornitza Stark Phenotypes for gene: MN1 were changed from Intellectual disability; dysmophic features; rhombencephalosynapsis to CEBALID syndrome, MIM#618774; Intellectual disability; dysmophic features; rhombencephalosynapsis
Intellectual disability syndromic and non-syndromic v0.2601 MN1 Zornitza Stark Mode of inheritance for gene: MN1 was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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 v0.2600 VPS51 Zornitza Stark Marked gene: VPS51 as ready
Intellectual disability syndromic and non-syndromic v0.2600 VPS51 Zornitza Stark Gene: vps51 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.2600 VPS51 Zornitza Stark Classified gene: VPS51 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.2600 VPS51 Zornitza Stark Gene: vps51 has been classified as Amber List (Moderate Evidence).
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 v0.2598 CDK19 Zornitza Stark Marked gene: CDK19 as ready
Intellectual disability syndromic and non-syndromic v0.2598 CDK19 Zornitza Stark Gene: cdk19 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2598 CDK19 Zornitza Stark Classified gene: CDK19 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.2598 CDK19 Zornitza Stark Gene: cdk19 has been classified as Green List (High Evidence).
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 v0.2596 PTPN23 Zornitza Stark Marked gene: PTPN23 as ready
Intellectual disability syndromic and non-syndromic v0.2596 PTPN23 Zornitza Stark Gene: ptpn23 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2596 PTPN23 Zornitza Stark Mode of inheritance for gene: PTPN23 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2595 PTPN23 Zornitza Stark Publications for gene: PTPN23 were set to
Intellectual disability syndromic and non-syndromic v0.2594 PTPN23 Zornitza Stark Phenotypes for gene: PTPN23 were changed from to Intellectual disability; brain abnormalities; seizures; optic atrophy; microcephaly
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 v0.2591 CYFIP2 Zornitza Stark Publications for gene: CYFIP2 were set to 29534297
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 v0.2590 CEP55 Zornitza Stark Marked gene: CEP55 as ready
Intellectual disability syndromic and non-syndromic v0.2590 CEP55 Zornitza Stark Gene: cep55 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2590 CEP55 Zornitza Stark Classified gene: CEP55 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.2590 CEP55 Zornitza Stark Gene: cep55 has been classified as Green List (High Evidence).
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 v0.2588 LRRC32 Zornitza Stark Marked gene: LRRC32 as ready
Intellectual disability syndromic and non-syndromic v0.2588 LRRC32 Zornitza Stark Gene: lrrc32 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.2588 LRRC32 Zornitza Stark Classified gene: LRRC32 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.2588 LRRC32 Zornitza Stark Gene: lrrc32 has been classified as Amber List (Moderate Evidence).
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 v0.2586 NTNG2 Zornitza Stark Publications for gene: NTNG2 were set to 31668703
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 v0.2585 TAF1 Zornitza Stark Marked gene: TAF1 as ready
Intellectual disability syndromic and non-syndromic v0.2585 TAF1 Zornitza Stark Gene: taf1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2585 TAF1 Zornitza Stark Phenotypes for gene: TAF1 were changed from to Mental retardation, X-linked, syndromic 33, MIM# 300966
Intellectual disability syndromic and non-syndromic v0.2584 TAF1 Zornitza Stark Publications for gene: TAF1 were set to
Intellectual disability syndromic and non-syndromic v0.2583 TAF1 Zornitza Stark Mode of inheritance for gene: TAF1 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
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 Marked gene: KCNB1 as ready
Intellectual disability syndromic and non-syndromic v0.2582 KCNB1 Zornitza Stark Gene: kcnb1 has been classified as Green List (High Evidence).
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 v0.2581 KCNB1 Zornitza Stark Publications for gene: KCNB1 were set to
Intellectual disability syndromic and non-syndromic v0.2580 KCNB1 Zornitza Stark Mode of inheritance for gene: KCNB1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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 v0.2579 RSRC1 Zornitza Stark Classified gene: RSRC1 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.2579 RSRC1 Zornitza Stark Gene: rsrc1 has been classified as Green List (High Evidence).
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 v0.2578 GAD1 Zornitza Stark Publications for gene: GAD1 were set to 15571623
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 v0.2576 GAD1 Zornitza Stark Classified gene: GAD1 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.2576 GAD1 Zornitza Stark Gene: gad1 has been classified as Green List (High Evidence).
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 v0.2575 GALNT2 Zornitza Stark Marked gene: GALNT2 as ready
Intellectual disability syndromic and non-syndromic v0.2575 GALNT2 Zornitza Stark Gene: galnt2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2575 GALNT2 Zornitza Stark Classified gene: GALNT2 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.2575 GALNT2 Zornitza Stark Gene: galnt2 has been classified as Green List (High Evidence).
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 v0.2573 PLPBP Zornitza Stark Marked gene: PLPBP as ready
Intellectual disability syndromic and non-syndromic v0.2573 PLPBP Zornitza Stark Gene: plpbp has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2573 PLPBP Zornitza Stark Phenotypes for gene: PLPBP were changed from to Epilepsy, early-onset, vitamin B6-dependent, MIM# 617290
Intellectual disability syndromic and non-syndromic v0.2572 PLPBP Zornitza Stark Publications for gene: PLPBP were set to
Intellectual disability syndromic and non-syndromic v0.2571 PLPBP Zornitza Stark Mode of inheritance for gene: PLPBP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
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 Marked gene: GRIN2A as ready
Intellectual disability syndromic and non-syndromic v0.2570 GRIN2A Zornitza Stark Gene: grin2a has been classified as Green List (High Evidence).
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 v0.2569 GRIN2A Zornitza Stark Publications for gene: GRIN2A were set to
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 v0.2567 GRIN2A Zornitza Stark Mode of inheritance for gene: GRIN2A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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 v0.2566 TSEN34 Zornitza Stark Marked gene: TSEN34 as ready
Intellectual disability syndromic and non-syndromic v0.2566 TSEN34 Zornitza Stark Gene: tsen34 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.2566 TSEN34 Zornitza Stark Phenotypes for gene: TSEN34 were changed from to Pontocerebellar hypoplasia type 2C, MIM# 612390
Intellectual disability syndromic and non-syndromic v0.2565 TSEN34 Zornitza Stark Publications for gene: TSEN34 were set to
Intellectual disability syndromic and non-syndromic v0.2564 TSEN34 Zornitza Stark Mode of inheritance for gene: TSEN34 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2563 TSEN34 Zornitza Stark Classified gene: TSEN34 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.2563 TSEN34 Zornitza Stark Gene: tsen34 has been classified as Red List (Low Evidence).
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 v0.2562 CHD4 Zornitza Stark Phenotypes for gene: CHD4 were changed from Sifrim-Hitz-Weiss syndrome, MIM 617159 to Sifrim-Hitz-Weiss syndrome, MIM 617159
Intellectual disability syndromic and non-syndromic v0.2561 CHD4 Zornitza Stark Marked gene: CHD4 as ready
Intellectual disability syndromic and non-syndromic v0.2561 CHD4 Zornitza Stark Gene: chd4 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2561 CHD4 Zornitza Stark Phenotypes for gene: CHD4 were changed from Sifrim-Hitz-Weiss syndrome, MIM 617159 to Sifrim-Hitz-Weiss syndrome, MIM 617159
Intellectual disability syndromic and non-syndromic v0.2561 CHD4 Zornitza Stark Phenotypes for gene: CHD4 were changed from to Sifrim-Hitz-Weiss syndrome, MIM 617159
Intellectual disability syndromic and non-syndromic v0.2561 CHD4 Zornitza Stark Publications for gene: CHD4 were set to 31388190
Intellectual disability syndromic and non-syndromic v0.2560 CHD4 Zornitza Stark Publications for gene: CHD4 were set to
Intellectual disability syndromic and non-syndromic v0.2559 CHD4 Zornitza Stark Mode of inheritance for gene: CHD4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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 v0.2558 TLK2 Zornitza Stark Marked gene: TLK2 as ready
Intellectual disability syndromic and non-syndromic v0.2558 TLK2 Zornitza Stark Gene: tlk2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2558 TLK2 Zornitza Stark Phenotypes for gene: TLK2 were changed from to Intellectual disability, MIM 618050; Neurodevelopmental disease
Intellectual disability syndromic and non-syndromic v0.2557 TLK2 Zornitza Stark Publications for gene: TLK2 were set to
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 v0.2555 DYRK1A Zornitza Stark Marked gene: DYRK1A as ready
Intellectual disability syndromic and non-syndromic v0.2555 DYRK1A Zornitza Stark Gene: dyrk1a has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2555 DYRK1A Zornitza Stark Phenotypes for gene: DYRK1A were changed from to Mental retardation, autosomal dominant 7 (MIM#614104)
Intellectual disability syndromic and non-syndromic v0.2554 DYRK1A Zornitza Stark Publications for gene: DYRK1A were set to
Intellectual disability syndromic and non-syndromic v0.2553 DYRK1A Zornitza Stark Mode of inheritance for gene: DYRK1A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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 Marked gene: GABRA1 as ready
Intellectual disability syndromic and non-syndromic v0.2552 GABRA1 Zornitza Stark Gene: gabra1 has been classified as Green List (High Evidence).
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 v0.2551 GABRA1 Zornitza Stark Publications for gene: GABRA1 were set to
Intellectual disability syndromic and non-syndromic v0.2550 GABRA1 Zornitza Stark Mode of inheritance for gene: GABRA1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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 v0.2549 GNAI2 Zornitza Stark Marked gene: GNAI2 as ready
Intellectual disability syndromic and non-syndromic v0.2549 GNAI2 Zornitza Stark Gene: gnai2 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.2549 GNAI2 Zornitza Stark Classified gene: GNAI2 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.2549 GNAI2 Zornitza Stark Gene: gnai2 has been classified as Amber List (Moderate Evidence).
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 v0.2547 FEM1B Zornitza Stark Marked gene: FEM1B as ready
Intellectual disability syndromic and non-syndromic v0.2547 FEM1B Zornitza Stark Gene: fem1b has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.2547 FEM1B Zornitza Stark Classified gene: FEM1B as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.2547 FEM1B Zornitza Stark Gene: fem1b has been classified as Amber List (Moderate Evidence).
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 WIPI2 Zornitza Stark Marked gene: WIPI2 as ready
Intellectual disability syndromic and non-syndromic v0.2545 WIPI2 Zornitza Stark Gene: wipi2 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.2545 SLC44A1 Zornitza Stark Marked gene: SLC44A1 as ready
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 SLC44A1 Zornitza Stark Gene: slc44a1 has been classified as Red List (Low Evidence).
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 v0.2544 GSX2 Zornitza Stark Marked gene: GSX2 as ready
Intellectual disability syndromic and non-syndromic v0.2544 GSX2 Zornitza Stark Gene: gsx2 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.2544 GSX2 Zornitza Stark Classified gene: GSX2 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.2544 GSX2 Zornitza Stark Gene: gsx2 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.2543 GSX2 Zornitza Stark gene: GSX2 was added
gene: GSX2 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: GSX2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GSX2 were set to 31412107
Phenotypes for gene: GSX2 were set to Diencephalic-mesencephalic junction dysplasia syndrome 2 618646; Intellectual disability; Dystonia; Spastic tetra paresis
Review for gene: GSX2 was set to AMBER
Added comment: Two unrelated families, some functional data.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.2542 IGF1R Zornitza Stark Marked gene: IGF1R as ready
Intellectual disability syndromic and non-syndromic v0.2542 IGF1R Zornitza Stark Gene: igf1r has been classified as Green List (High Evidence).
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 v0.2541 IGF1R Zornitza Stark Publications for gene: IGF1R were set to 31586944
Intellectual disability syndromic and non-syndromic v0.2541 IGF1R Zornitza Stark Publications for gene: IGF1R were set to
Intellectual disability syndromic and non-syndromic v0.2540 YARS Zornitza Stark Marked gene: YARS as ready
Intellectual disability syndromic and non-syndromic v0.2540 YARS Zornitza Stark Gene: yars has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2540 YARS Zornitza Stark Classified gene: YARS as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.2540 YARS Zornitza Stark Gene: yars has been classified as Green List (High Evidence).
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 v0.2535 CTCF Zornitza Stark Marked gene: CTCF as ready
Intellectual disability syndromic and non-syndromic v0.2535 CTCF Zornitza Stark Gene: ctcf has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2535 CTCF Zornitza Stark Phenotypes for gene: CTCF were changed from to Mental retardation, autosomal dominant 21 (MIM#615502)
Intellectual disability syndromic and non-syndromic v0.2534 CTCF Zornitza Stark Publications for gene: CTCF were set to
Intellectual disability syndromic and non-syndromic v0.2533 CTCF Zornitza Stark Mode of inheritance for gene: CTCF was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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 v0.2532 MAB21L1 Zornitza Stark Publications for gene: MAB21L1 were set to 30487245
Intellectual disability syndromic and non-syndromic v0.2531 ZMYND11 Zornitza Stark Marked gene: ZMYND11 as ready
Intellectual disability syndromic and non-syndromic v0.2531 ZMYND11 Zornitza Stark Gene: zmynd11 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2531 ZMYND11 Zornitza Stark Phenotypes for gene: ZMYND11 were changed from to Mental retardation, autosomal dominant 30, MIM# 616083
Intellectual disability syndromic and non-syndromic v0.2530 ZMYND11 Zornitza Stark Publications for gene: ZMYND11 were set to
Intellectual disability syndromic and non-syndromic v0.2529 ZMYND11 Zornitza Stark Mode of inheritance for gene: ZMYND11 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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 v0.2528 BAZ2B Zornitza Stark Marked gene: BAZ2B as ready
Intellectual disability syndromic and non-syndromic v0.2528 BAZ2B Zornitza Stark Gene: baz2b has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2528 BAZ2B Zornitza Stark Classified gene: BAZ2B as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.2528 BAZ2B Zornitza Stark Gene: baz2b has been classified as Green List (High Evidence).
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 v0.2526 CACNB4 Bryony Thompson Classified gene: CACNB4 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.2526 CACNB4 Bryony Thompson Gene: cacnb4 has been classified as Amber List (Moderate Evidence).
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 v0.2524 FMR1 Bryony Thompson Tag STR tag was added to gene: FMR1.
Intellectual disability syndromic and non-syndromic v0.2524 SLC18A2 Zornitza Stark Marked gene: SLC18A2 as ready
Intellectual disability syndromic and non-syndromic v0.2524 SLC18A2 Zornitza Stark Gene: slc18a2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2524 SLC18A2 Zornitza Stark Classified gene: SLC18A2 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.2524 SLC18A2 Zornitza Stark Gene: slc18a2 has been classified as Green List (High Evidence).
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 v0.2522 NRROS Zornitza Stark Marked gene: NRROS as ready
Intellectual disability syndromic and non-syndromic v0.2522 NRROS Zornitza Stark Gene: nrros has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2522 RUBCN Zornitza Stark Mode of inheritance for gene: RUBCN was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
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 v0.2521 NUP188 Zornitza Stark Phenotypes for gene: NUP188 were changed from microcephaly; ID; cataract to microcephaly; ID; cataract; structural brain abnormalities; hypoventilation
Intellectual disability syndromic and non-syndromic v0.2520 NUP188 Zornitza Stark Publications for gene: NUP188 were set to https://doi.org/10.1159/000504818; 28726809
Intellectual disability syndromic and non-syndromic v0.2519 NUP188 Zornitza Stark Classified gene: NUP188 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.2519 NUP188 Zornitza Stark Gene: nup188 has been classified as Green List (High Evidence).
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 Marked gene: AP3B2 as ready
Intellectual disability syndromic and non-syndromic v0.2518 AP3B2 Zornitza Stark Gene: ap3b2 has been classified as Green List (High Evidence).
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 v0.2517 AP3B2 Zornitza Stark Publications for gene: AP3B2 were set to
Intellectual disability syndromic and non-syndromic v0.2516 AP3B2 Zornitza Stark Mode of inheritance for gene: AP3B2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
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 Marked gene: TCF20 as ready
Intellectual disability syndromic and non-syndromic v0.2515 TCF20 Zornitza Stark Gene: tcf20 has been classified as Green List (High Evidence).
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 v0.2514 TCF20 Zornitza Stark Publications for gene: TCF20 were set to
Intellectual disability syndromic and non-syndromic v0.2513 TCF20 Zornitza Stark Mode of inheritance for gene: TCF20 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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 v0.2512 TFE3 Zornitza Stark Marked gene: TFE3 as ready
Intellectual disability syndromic and non-syndromic v0.2512 TFE3 Zornitza Stark Gene: tfe3 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2512 TFE3 Zornitza Stark Classified gene: TFE3 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.2512 TFE3 Zornitza Stark Gene: tfe3 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2511 TFE3 Zornitza Stark gene: TFE3 was added
gene: TFE3 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list
Mode of inheritance for gene: TFE3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TFE3 were set to 30595499; 31833172
Phenotypes for gene: TFE3 were set to TFE3-associated neurodevelopmental disorder; Intellectual disability; Epilepsy; Coarse facial features
Review for gene: TFE3 was set to GREEN
Added comment: Seven individuals reported; so far, all have been found to harbour de novo variants affecting exons 3 or 4.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.2510 TOP2B Zornitza Stark Marked gene: TOP2B as ready
Intellectual disability syndromic and non-syndromic v0.2510 TOP2B Zornitza Stark Gene: top2b has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.2510 TOP2B Zornitza Stark Classified gene: TOP2B as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.2510 TOP2B Zornitza Stark Gene: top2b has been classified as Amber List (Moderate Evidence).
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 v0.2508 CNKSR1 Zornitza Stark Marked gene: CNKSR1 as ready
Intellectual disability syndromic and non-syndromic v0.2508 CNKSR1 Zornitza Stark Gene: cnksr1 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.2508 CNKSR1 Zornitza Stark Classified gene: CNKSR1 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.2508 CNKSR1 Zornitza Stark Gene: cnksr1 has been classified as Amber List (Moderate Evidence).
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 Marked gene: FRMD4A as ready
Intellectual disability syndromic and non-syndromic v0.2506 FRMD4A Zornitza Stark Gene: frmd4a has been classified as Amber List (Moderate Evidence).
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 v0.2505 FRMD4A Zornitza Stark Classified gene: FRMD4A as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.2505 FRMD4A Zornitza Stark Gene: frmd4a has been classified as Amber List (Moderate Evidence).
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 v0.2503 PIGK Zornitza Stark Classified gene: PIGK as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.2503 PIGK Zornitza Stark Gene: pigk has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2502 PIGK Zornitza Stark gene: PIGK was added
gene: PIGK was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: PIGK was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PIGK were set to 32220290
Phenotypes for gene: PIGK were set to Intellectual disability; seizures; cerebellar atrophy
Review for gene: PIGK was set to GREEN
Added comment: 12 individuals from 9 unrelated families reported.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.2501 ADARB1 Zornitza Stark Marked gene: ADARB1 as ready
Intellectual disability syndromic and non-syndromic v0.2501 ADARB1 Zornitza Stark Gene: adarb1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2501 ADARB1 Zornitza Stark Classified gene: ADARB1 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.2501 ADARB1 Zornitza Stark Gene: adarb1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2500 ADARB1 Zornitza Stark Classified gene: ADARB1 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.2500 ADARB1 Zornitza Stark Gene: adarb1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2500 ADARB1 Zornitza Stark Classified gene: ADARB1 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.2500 ADARB1 Zornitza Stark Gene: adarb1 has been classified as Green List (High Evidence).
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 v0.2498 PQBP1 Zornitza Stark Marked gene: PQBP1 as ready
Intellectual disability syndromic and non-syndromic v0.2498 PQBP1 Zornitza Stark Gene: pqbp1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2498 PQBP1 Zornitza Stark Phenotypes for gene: PQBP1 were changed from to Renpenning syndrome, MIM#309500
Intellectual disability syndromic and non-syndromic v0.2497 PQBP1 Zornitza Stark Publications for gene: PQBP1 were set to
Intellectual disability syndromic and non-syndromic v0.2496 PQBP1 Zornitza Stark Mode of inheritance for gene: PQBP1 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
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 v0.2495 DLG3 Zornitza Stark Marked gene: DLG3 as ready
Intellectual disability syndromic and non-syndromic v0.2495 DLG3 Zornitza Stark Gene: dlg3 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2495 DLG3 Zornitza Stark Phenotypes for gene: DLG3 were changed from to Mental retardation, X-linked 90, MIM#300850
Intellectual disability syndromic and non-syndromic v0.2494 DLG3 Zornitza Stark Publications for gene: DLG3 were set to
Intellectual disability syndromic and non-syndromic v0.2493 DLG3 Zornitza Stark Mode of inheritance for gene: DLG3 was changed from Unknown to 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 v0.2492 AGTPBP1 Zornitza Stark Marked gene: AGTPBP1 as ready
Intellectual disability syndromic and non-syndromic v0.2492 AGTPBP1 Zornitza Stark Gene: agtpbp1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2492 AGTPBP1 Zornitza Stark Classified gene: AGTPBP1 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.2492 AGTPBP1 Zornitza Stark Gene: agtpbp1 has been classified as Green List (High Evidence).
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 v0.2490 NR2F2 Sue White Classified gene: NR2F2 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.2490 NR2F2 Sue White Gene: nr2f2 has been classified as Amber List (Moderate Evidence).
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 v0.2488 EIF2AK2 Zornitza Stark Classified gene: EIF2AK2 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.2488 EIF2AK2 Zornitza Stark Gene: eif2ak2 has been classified as Green List (High Evidence).
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 Marked gene: EIF2AK1 as ready
Intellectual disability syndromic and non-syndromic v0.2486 EIF2AK1 Zornitza Stark Gene: eif2ak1 has been classified as Red List (Low Evidence).
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 v0.2485 NOVA2 Zornitza Stark Marked gene: NOVA2 as ready
Intellectual disability syndromic and non-syndromic v0.2485 NOVA2 Zornitza Stark Gene: nova2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2485 NOVA2 Zornitza Stark Classified gene: NOVA2 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.2485 NOVA2 Zornitza Stark Gene: nova2 has been classified as Green List (High Evidence).
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 v0.2483 GNB2 Sue White Classified gene: GNB2 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.2483 GNB2 Sue White Gene: gnb2 has been classified as Amber List (Moderate Evidence).
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 v0.2481 NRROS Sue White Classified gene: NRROS as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.2481 NRROS Sue White Gene: nrros has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2480 NRROS Sue White gene: NRROS was added
gene: NRROS was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: NRROS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NRROS were set to 32197075; 32100099
Phenotypes for gene: NRROS were set to neurodegeneration; intracranial calcification; epilepsy
Penetrance for gene: NRROS were set to Complete
Review for gene: NRROS was set to GREEN
Added comment: Sources: Literature
Intellectual disability syndromic and non-syndromic v0.2479 CNOT3 Zornitza Stark Marked gene: CNOT3 as ready
Intellectual disability syndromic and non-syndromic v0.2479 CNOT3 Zornitza Stark Added comment: Comment when marking as ready: 16 unrelated individuals reported.
Intellectual disability syndromic and non-syndromic v0.2479 CNOT3 Zornitza Stark Gene: cnot3 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2479 CNOT3 Zornitza Stark Marked gene: CNOT3 as ready
Intellectual disability syndromic and non-syndromic v0.2479 CNOT3 Zornitza Stark Gene: cnot3 has been classified as Green List (High Evidence).
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 v0.2478 CNOT3 Zornitza Stark Publications for gene: CNOT3 were set to
Intellectual disability syndromic and non-syndromic v0.2477 CNOT3 Zornitza Stark Mode of inheritance for gene: CNOT3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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 v0.2476 QARS Zornitza Stark Marked gene: QARS as ready
Intellectual disability syndromic and non-syndromic v0.2476 QARS Zornitza Stark Gene: qars has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2476 QARS Zornitza Stark Phenotypes for gene: QARS were changed from to Microcephaly, progressive, seizures, and cerebral and cerebellar atrophy, MIM# 615760
Intellectual disability syndromic and non-syndromic v0.2475 QARS Zornitza Stark Publications for gene: QARS were set to
Intellectual disability syndromic and non-syndromic v0.2474 QARS Zornitza Stark Mode of inheritance for gene: QARS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
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 v0.2473 SPATA5 Zornitza Stark Phenotypes for gene: SPATA5 were changed from Epilepsy, hearing loss, and mental retardation syndrome MIM#616577 to Epilepsy, hearing loss, and mental retardation syndrome MIM#616577
Intellectual disability syndromic and non-syndromic v0.2473 SPATA5 Zornitza Stark Marked gene: SPATA5 as ready
Intellectual disability syndromic and non-syndromic v0.2473 SPATA5 Zornitza Stark Gene: spata5 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2473 SPATA5 Zornitza Stark Marked gene: SPATA5 as ready
Intellectual disability syndromic and non-syndromic v0.2473 SPATA5 Zornitza Stark Gene: spata5 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2473 SPATA5 Zornitza Stark Phenotypes for gene: SPATA5 were changed from to Epilepsy, hearing loss, and mental retardation syndrome MIM#616577
Intellectual disability syndromic and non-syndromic v0.2472 SPATA5 Zornitza Stark Publications for gene: SPATA5 were set to
Intellectual disability syndromic and non-syndromic v0.2471 SPATA5 Zornitza Stark Mode of inheritance for gene: SPATA5 was changed from Unknown to 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 v0.2470 ISCA1 Zornitza Stark Marked gene: ISCA1 as ready
Intellectual disability syndromic and non-syndromic v0.2470 ISCA1 Zornitza Stark Gene: isca1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2470 ISCA1 Zornitza Stark Classified gene: ISCA1 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.2470 ISCA1 Zornitza Stark Gene: isca1 has been classified as Green List (High Evidence).
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 v0.2468 CAMTA1 Zornitza Stark Publications for gene: CAMTA1 were set to
Intellectual disability syndromic and non-syndromic v0.2467 CAMTA1 Zornitza Stark Tag SV/CNV tag was added to gene: CAMTA1.
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 v0.2467 GPT2 Zornitza Stark Marked gene: GPT2 as ready
Intellectual disability syndromic and non-syndromic v0.2467 GPT2 Zornitza Stark Gene: gpt2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2467 GPT2 Zornitza Stark Phenotypes for gene: GPT2 were changed from to Mental retardation, autosomal recessive 49, MIM#616281
Intellectual disability syndromic and non-syndromic v0.2466 GPT2 Zornitza Stark Publications for gene: GPT2 were set to
Intellectual disability syndromic and non-syndromic v0.2465 GPT2 Zornitza Stark Mode of inheritance for gene: GPT2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
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 v0.2463 SUPT16H Zornitza Stark Marked gene: SUPT16H as ready
Intellectual disability syndromic and non-syndromic v0.2463 SUPT16H Zornitza Stark Gene: supt16h has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2463 SUPT16H Zornitza Stark Classified gene: SUPT16H as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.2463 SUPT16H Zornitza Stark Gene: supt16h has been classified as Green List (High Evidence).
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 v0.2461 SLC5A6 Zornitza Stark Publications for gene: SLC5A6 were set to 31754459; 27904971
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 v0.2460 RARS Zornitza Stark Marked gene: RARS as ready
Intellectual disability syndromic and non-syndromic v0.2460 RARS Zornitza Stark Gene: rars has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2460 RARS Zornitza Stark Classified gene: RARS as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.2460 RARS Zornitza Stark Gene: rars has been classified as Green List (High Evidence).
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 v0.2458 CXorf56 Zornitza Stark Classified gene: CXorf56 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.2458 CXorf56 Zornitza Stark Gene: cxorf56 has been classified as Green List (High Evidence).
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 v0.2457 TNR Zornitza Stark Marked gene: TNR as ready
Intellectual disability syndromic and non-syndromic v0.2457 TNR Zornitza Stark Gene: tnr has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2457 TNR Zornitza Stark Classified gene: TNR as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.2457 TNR Zornitza Stark Gene: tnr has been classified as Green List (High Evidence).
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 v0.2455 RSPRY1 Zornitza Stark Classified gene: RSPRY1 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.2455 RSPRY1 Zornitza Stark Gene: rspry1 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.2454 RSPRY1 Zornitza Stark gene: RSPRY1 was added
gene: RSPRY1 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list
Mode of inheritance for gene: RSPRY1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RSPRY1 were set to 26365341
Phenotypes for gene: RSPRY1 were set to Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type, 616585
Review for gene: RSPRY1 was set to AMBER
Added comment: Two unrelated individuals reported, some functional evidence.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.2453 RPS23 Zornitza Stark Phenotypes for gene: RPS23 were changed from Brachycephaly, trichomegaly, and developmental delay, MIM# 617412 to Brachycephaly, trichomegaly, and developmental delay, MIM# 617412
Intellectual disability syndromic and non-syndromic v0.2453 RPS23 Zornitza Stark Marked gene: RPS23 as ready
Intellectual disability syndromic and non-syndromic v0.2453 RPS23 Zornitza Stark Gene: rps23 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.2453 RPS23 Zornitza Stark Phenotypes for gene: RPS23 were changed from to Brachycephaly, trichomegaly, and developmental delay, MIM# 617412
Intellectual disability syndromic and non-syndromic v0.2452 RPS23 Zornitza Stark Publications for gene: RPS23 were set to 28257692
Intellectual disability syndromic and non-syndromic v0.2452 RPS23 Zornitza Stark Publications for gene: RPS23 were set to
Intellectual disability syndromic and non-syndromic v0.2451 RPS23 Zornitza Stark Mode of inheritance for gene: RPS23 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.2450 RPS23 Zornitza Stark Classified gene: RPS23 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.2450 RPS23 Zornitza Stark Gene: rps23 has been classified as Amber List (Moderate Evidence).
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 v0.2449 RNF13 Zornitza Stark Marked gene: RNF13 as ready
Intellectual disability syndromic and non-syndromic v0.2449 RNF13 Zornitza Stark Gene: rnf13 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2449 RNF13 Zornitza Stark Classified gene: RNF13 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.2449 RNF13 Zornitza Stark Gene: rnf13 has been classified as Green List (High Evidence).
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 v0.2447 RIMS1 Zornitza Stark Marked gene: RIMS1 as ready
Intellectual disability syndromic and non-syndromic v0.2447 RIMS1 Zornitza Stark Gene: rims1 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.2447 RIMS1 Zornitza Stark Phenotypes for gene: RIMS1 were changed from to Autism; Cone-rod dystrophy 7 , MIM#603649
Intellectual disability syndromic and non-syndromic v0.2446 RIMS1 Zornitza Stark Publications for gene: RIMS1 were set to
Intellectual disability syndromic and non-syndromic v0.2445 RIMS1 Zornitza Stark Mode of inheritance for gene: RIMS1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.2444 RIMS1 Zornitza Stark Classified gene: RIMS1 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.2444 RIMS1 Zornitza Stark Gene: rims1 has been classified as Red List (Low Evidence).
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 v0.2443 RHEB Zornitza Stark Marked gene: RHEB as ready
Intellectual disability syndromic and non-syndromic v0.2443 RHEB Zornitza Stark Gene: rheb has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2443 RHEB Zornitza Stark Phenotypes for gene: RHEB were changed from to Intellectual disability; Macrocephaly; Focal cortical dysplasia
Intellectual disability syndromic and non-syndromic v0.2442 RHEB Zornitza Stark Publications for gene: RHEB were set to
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 v0.2440 MRPS34 Zornitza Stark Marked gene: MRPS34 as ready
Intellectual disability syndromic and non-syndromic v0.2440 MRPS34 Zornitza Stark Gene: mrps34 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2440 MRPS34 Zornitza Stark Classified gene: MRPS34 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.2440 MRPS34 Zornitza Stark Gene: mrps34 has been classified as Green List (High Evidence).
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 Tag SV/CNV tag was added to gene: MIR17HG.
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 v0.2438 MFSD2A Zornitza Stark Marked gene: MFSD2A as ready
Intellectual disability syndromic and non-syndromic v0.2438 MFSD2A Zornitza Stark Gene: mfsd2a has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2438 MFSD2A Zornitza Stark Classified gene: MFSD2A as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.2438 MFSD2A Zornitza Stark Gene: mfsd2a has been classified as Green List (High Evidence).
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 v0.2436 MED13 Zornitza Stark Marked gene: MED13 as ready
Intellectual disability syndromic and non-syndromic v0.2436 MED13 Zornitza Stark Gene: med13 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2436 MED13 Zornitza Stark Phenotypes for gene: MED13 were changed from to Intellectual developmental disorder 61, MIM# 618009
Intellectual disability syndromic and non-syndromic v0.2435 MED13 Zornitza Stark Publications for gene: MED13 were set to
Intellectual disability syndromic and non-syndromic v0.2434 MED13 Zornitza Stark Mode of inheritance for gene: MED13 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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 v0.2433 MED12L Zornitza Stark Classified gene: MED12L as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.2433 MED12L Zornitza Stark Gene: med12l has been classified as Green List (High Evidence).
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 v0.2431 MCM3AP Zornitza Stark Marked gene: MCM3AP as ready
Intellectual disability syndromic and non-syndromic v0.2431 MCM3AP Zornitza Stark Gene: mcm3ap has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2431 MCM3AP Zornitza Stark Classified gene: MCM3AP as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.2431 MCM3AP Zornitza Stark Gene: mcm3ap has been classified as Green List (High Evidence).
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 v0.2429 MARS2 Zornitza Stark Classified gene: MARS2 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.2429 MARS2 Zornitza Stark Gene: mars2 has been classified as Red List (Low Evidence).
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 v0.2428 MAPRE2 Zornitza Stark Marked gene: MAPRE2 as ready
Intellectual disability syndromic and non-syndromic v0.2428 MAPRE2 Zornitza Stark Gene: mapre2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2428 MAPRE2 Zornitza Stark Classified gene: MAPRE2 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.2428 MAPRE2 Zornitza Stark Gene: mapre2 has been classified as Green List (High Evidence).
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 v0.2426 PURA Zornitza Stark Marked gene: PURA as ready
Intellectual disability syndromic and non-syndromic v0.2426 PURA Zornitza Stark Gene: pura has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2426 PURA Zornitza Stark Phenotypes for gene: PURA were changed from to Mental retardation, autosomal dominant 31, MIM# 616158
Intellectual disability syndromic and non-syndromic v0.2425 PURA Zornitza Stark Publications for gene: PURA were set to
Intellectual disability syndromic and non-syndromic v0.2424 PURA Zornitza Stark Mode of inheritance for gene: PURA was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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 Marked gene: BPTF as ready
Intellectual disability syndromic and non-syndromic v0.2423 BPTF Zornitza Stark Gene: bptf has been classified as Green List (High Evidence).
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 v0.2422 BPTF Zornitza Stark Publications for gene: BPTF were set to
Intellectual disability syndromic and non-syndromic v0.2421 BPTF Zornitza Stark Mode of inheritance for gene: BPTF was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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 v0.2420 TRIO Zornitza Stark Marked gene: TRIO as ready
Intellectual disability syndromic and non-syndromic v0.2420 TRIO Zornitza Stark Gene: trio has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2420 TRIO Zornitza Stark Phenotypes for gene: TRIO were changed from to Mental retardation, autosomal dominant 44, MIM# 617061
Intellectual disability syndromic and non-syndromic v0.2419 TRIO Zornitza Stark Publications for gene: TRIO were set to
Intellectual disability syndromic and non-syndromic v0.2418 TRIO Zornitza Stark Mode of inheritance for gene: TRIO was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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 v0.2417 MAN1B1 Zornitza Stark Marked gene: MAN1B1 as ready
Intellectual disability syndromic and non-syndromic v0.2417 MAN1B1 Zornitza Stark Gene: man1b1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2417 MAN1B1 Zornitza Stark Phenotypes for gene: MAN1B1 were changed from to Mental retardation, autosomal recessive 15, MIM#614202
Intellectual disability syndromic and non-syndromic v0.2416 MAN1B1 Zornitza Stark Mode of inheritance for gene: MAN1B1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
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 v0.2415 KMT2C Zornitza Stark Marked gene: KMT2C as ready
Intellectual disability syndromic and non-syndromic v0.2415 KMT2C Zornitza Stark Gene: kmt2c has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2415 KMT2C Zornitza Stark Phenotypes for gene: KMT2C were changed from to Kleefstra syndrome 2, MIM#617768
Intellectual disability syndromic and non-syndromic v0.2414 KMT2C Zornitza Stark Mode of inheritance for gene: KMT2C was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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 v0.2413 NUDT2 Zornitza Stark Marked gene: NUDT2 as ready
Intellectual disability syndromic and non-syndromic v0.2413 NUDT2 Zornitza Stark Gene: nudt2 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.2413 NUDT2 Zornitza Stark Classified gene: NUDT2 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.2413 NUDT2 Zornitza Stark Gene: nudt2 has been classified as Amber List (Moderate Evidence).
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 v0.2411 NKAP Zornitza Stark Marked gene: NKAP as ready
Intellectual disability syndromic and non-syndromic v0.2411 NKAP Zornitza Stark Gene: nkap has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2411 NKAP Zornitza Stark Classified gene: NKAP as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.2411 NKAP Zornitza Stark Gene: nkap has been classified as Green List (High Evidence).
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 v0.2409 NHP2 Zornitza Stark Marked gene: NHP2 as ready
Intellectual disability syndromic and non-syndromic v0.2409 NHP2 Zornitza Stark Gene: nhp2 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.2409 NHP2 Zornitza Stark Phenotypes for gene: NHP2 were changed from to Dyskeratosis congenita, autosomal recessive 2, MIM# 613987; Høyeraal-Hreidarsson syndrome
Intellectual disability syndromic and non-syndromic v0.2408 NHP2 Zornitza Stark Publications for gene: NHP2 were set to
Intellectual disability syndromic and non-syndromic v0.2407 NHP2 Zornitza Stark Mode of inheritance for gene: NHP2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2406 NHP2 Zornitza Stark Classified gene: NHP2 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.2406 NHP2 Zornitza Stark Gene: nhp2 has been classified as Amber List (Moderate Evidence).
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 Marked gene: NHEJ1 as ready
Intellectual disability syndromic and non-syndromic v0.2405 NHEJ1 Zornitza Stark Gene: nhej1 has been classified as Red List (Low Evidence).
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 v0.2404 NHEJ1 Zornitza Stark Publications for gene: NHEJ1 were set to
Intellectual disability syndromic and non-syndromic v0.2403 NHEJ1 Zornitza Stark Mode of inheritance for gene: NHEJ1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2402 NHEJ1 Zornitza Stark Classified gene: NHEJ1 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.2402 NHEJ1 Zornitza Stark Gene: nhej1 has been classified as Red List (Low Evidence).
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 Marked gene: NGF as ready
Intellectual disability syndromic and non-syndromic v0.2401 NGF Zornitza Stark Gene: ngf has been classified as Red List (Low Evidence).
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 v0.2400 NGF Zornitza Stark Mode of inheritance for gene: NGF was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2399 NGF Zornitza Stark Classified gene: NGF as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.2399 NGF Zornitza Stark Gene: ngf has been classified as Red List (Low Evidence).
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 v0.2398 NDUFV2 Zornitza Stark Classified gene: NDUFV2 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.2398 NDUFV2 Zornitza Stark Gene: ndufv2 has been classified as Amber List (Moderate Evidence).
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 v0.2397 NDUFS6 Zornitza Stark Classified gene: NDUFS6 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.2397 NDUFS6 Zornitza Stark Gene: ndufs6 has been classified as Amber List (Moderate Evidence).
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 v0.2396 NDUFS3 Zornitza Stark Classified gene: NDUFS3 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.2396 NDUFS3 Zornitza Stark Gene: ndufs3 has been classified as Amber List (Moderate Evidence).
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 v0.2395 NDUFS2 Zornitza Stark Classified gene: NDUFS2 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.2395 NDUFS2 Zornitza Stark Gene: ndufs2 has been classified as Amber List (Moderate Evidence).
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 Marked gene: TBR1 as ready
Intellectual disability syndromic and non-syndromic v0.2394 TBR1 Zornitza Stark Gene: tbr1 has been classified as Green List (High Evidence).
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 v0.2393 TBR1 Zornitza Stark Publications for gene: TBR1 were set to
Intellectual disability syndromic and non-syndromic v0.2392 TBR1 Zornitza Stark Mode of inheritance for gene: TBR1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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 v0.2391 NDUFS1 Zornitza Stark Marked gene: NDUFS1 as ready
Intellectual disability syndromic and non-syndromic v0.2391 NDUFS1 Zornitza Stark Gene: ndufs1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2391 NDUFS1 Zornitza Stark Phenotypes for gene: NDUFS1 were changed from Mitochondrial complex I deficiency, nuclear type 5, MIM# 618226 to Mitochondrial complex I deficiency, nuclear type 5, MIM# 618226
Intellectual disability syndromic and non-syndromic v0.2390 NDUFS1 Zornitza Stark Phenotypes for gene: NDUFS1 were changed from to Mitochondrial complex I deficiency, nuclear type 5, MIM# 618226
Intellectual disability syndromic and non-syndromic v0.2390 NDUFS1 Zornitza Stark Publications for gene: NDUFS1 were set to 20382551
Intellectual disability syndromic and non-syndromic v0.2390 NDUFS1 Zornitza Stark Publications for gene: NDUFS1 were set to
Intellectual disability syndromic and non-syndromic v0.2389 NDUFS1 Zornitza Stark Mode of inheritance for gene: NDUFS1 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2389 NDUFS1 Zornitza Stark Mode of inheritance for gene: NDUFS1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
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 v0.2388 NDUFB3 Zornitza Stark Classified gene: NDUFB3 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.2388 NDUFB3 Zornitza Stark Gene: ndufb3 has been classified as Amber List (Moderate Evidence).
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 v0.2387 NDUFAF6 Zornitza Stark Classified gene: NDUFAF6 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.2387 NDUFAF6 Zornitza Stark Gene: ndufaf6 has been classified as Amber List (Moderate Evidence).
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 v0.2386 NDUFAF5 Zornitza Stark Marked gene: NDUFAF5 as ready
Intellectual disability syndromic and non-syndromic v0.2386 NDUFAF5 Zornitza Stark Gene: ndufaf5 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.2386 NDUFAF5 Zornitza Stark Phenotypes for gene: NDUFAF5 were changed from to Mitochondrial complex I deficiency, nuclear type 16, MIM# 618238
Intellectual disability syndromic and non-syndromic v0.2385 NDUFAF5 Zornitza Stark Publications for gene: NDUFAF5 were set to
Intellectual disability syndromic and non-syndromic v0.2384 NDUFAF5 Zornitza Stark Mode of inheritance for gene: NDUFAF5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2383 NDUFAF5 Zornitza Stark Classified gene: NDUFAF5 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.2383 NDUFAF5 Zornitza Stark Gene: ndufaf5 has been classified as Amber List (Moderate Evidence).
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 v0.2382 NDUFAF4 Zornitza Stark Classified gene: NDUFAF4 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.2382 NDUFAF4 Zornitza Stark Gene: ndufaf4 has been classified as Amber List (Moderate Evidence).
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 v0.2381 NDUFAF3 Zornitza Stark Classified gene: NDUFAF3 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.2381 NDUFAF3 Zornitza Stark Gene: ndufaf3 has been classified as Amber List (Moderate Evidence).
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 v0.2380 NDUFAF2 Zornitza Stark Classified gene: NDUFAF2 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.2380 NDUFAF2 Zornitza Stark Gene: ndufaf2 has been classified as Amber List (Moderate Evidence).
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 v0.2379 NDUFA9 Zornitza Stark Classified gene: NDUFA9 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.2379 NDUFA9 Zornitza Stark Gene: ndufa9 has been classified as Amber List (Moderate Evidence).
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 v0.2378 NDUFA10 Zornitza Stark Classified gene: NDUFA10 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.2378 NDUFA10 Zornitza Stark Gene: ndufa10 has been classified as Amber List (Moderate Evidence).
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 v0.2377 SYNGAP1 Zornitza Stark Marked gene: SYNGAP1 as ready
Intellectual disability syndromic and non-syndromic v0.2377 SYNGAP1 Zornitza Stark Gene: syngap1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2377 SYNGAP1 Zornitza Stark Phenotypes for gene: SYNGAP1 were changed from to Intellectual disability, autosomal dominant 5 (MIM # 612621)
Intellectual disability syndromic and non-syndromic v0.2376 SYNGAP1 Zornitza Stark Publications for gene: SYNGAP1 were set to
Intellectual disability syndromic and non-syndromic v0.2375 SYNGAP1 Zornitza Stark Mode of inheritance for gene: SYNGAP1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.2374 NBN Zornitza Stark Marked gene: NBN as ready
Intellectual disability syndromic and non-syndromic v0.2374 NBN Zornitza Stark Gene: nbn has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.2374 NBN Zornitza Stark Phenotypes for gene: NBN were changed from to Nijmegen breakage syndrome, MIM# 251260
Intellectual disability syndromic and non-syndromic v0.2373 NBN Zornitza Stark Mode of inheritance for gene: NBN was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2372 NBN Zornitza Stark Classified gene: NBN as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.2372 NBN Zornitza Stark Gene: nbn has been classified as Amber List (Moderate Evidence).
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 v0.2371 ZBTB24 Zornitza Stark Marked gene: ZBTB24 as ready
Intellectual disability syndromic and non-syndromic v0.2371 ZBTB24 Zornitza Stark Gene: zbtb24 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2371 ZBTB24 Zornitza Stark Phenotypes for gene: ZBTB24 were changed from to Immunodeficiency-centromeric instability-facial anomalies syndrome 2; OMIM # 614069
Intellectual disability syndromic and non-syndromic v0.2370 ZBTB24 Zornitza Stark Publications for gene: ZBTB24 were set to
Intellectual disability syndromic and non-syndromic v0.2369 ZBTB24 Zornitza Stark Mode of inheritance for gene: ZBTB24 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2368 ZBTB16 Zornitza Stark Marked gene: ZBTB16 as ready
Intellectual disability syndromic and non-syndromic v0.2368 ZBTB16 Zornitza Stark Gene: zbtb16 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.2368 ZBTB16 Zornitza Stark Phenotypes for gene: ZBTB16 were changed from to Skeletal defects, genital hypoplasia, and mental retardation, OMIM #612447
Intellectual disability syndromic and non-syndromic v0.2367 ZBTB16 Zornitza Stark Publications for gene: ZBTB16 were set to
Intellectual disability syndromic and non-syndromic v0.2366 ZBTB16 Zornitza Stark Mode of inheritance for gene: ZBTB16 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2365 ZBTB11 Zornitza Stark Marked gene: ZBTB11 as ready
Intellectual disability syndromic and non-syndromic v0.2365 ZBTB11 Zornitza Stark Gene: zbtb11 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.2365 ZBTB11 Zornitza Stark Phenotypes for gene: ZBTB11 were changed from to Intellectual developmental disorder, autosomal recessive 69; OMIM #618383
Intellectual disability syndromic and non-syndromic v0.2364 ZBTB11 Zornitza Stark Publications for gene: ZBTB11 were set to
Intellectual disability syndromic and non-syndromic v0.2363 ZBTB11 Zornitza Stark Mode of inheritance for gene: ZBTB11 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2362 XPA Zornitza Stark Publications for gene: XPA were set to
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 v0.2361 WFS1 Zornitza Stark Phenotypes for gene: WFS1 were changed from to Wolfram syndrome 1, MIM# 222300; Wolfram-like syndrome, autosomal dominant, MIM# 614296
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 v0.2359 WFS1 Zornitza Stark Classified gene: WFS1 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.2359 WFS1 Zornitza Stark Gene: wfs1 has been classified as Amber List (Moderate Evidence).
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 Marked gene: WDR81 as ready
Intellectual disability syndromic and non-syndromic v0.2358 WDR81 Zornitza Stark Gene: wdr81 has been classified as Green List (High Evidence).
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 v0.2357 WDR81 Zornitza Stark Publications for gene: WDR81 were set to
Intellectual disability syndromic and non-syndromic v0.2356 WDR81 Zornitza Stark Mode of inheritance for gene: WDR81 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2355 WDR4 Zornitza Stark Marked gene: WDR4 as ready
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 v0.2355 WDR4 Zornitza Stark Gene: wdr4 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2355 WDR4 Zornitza Stark Marked gene: WDR4 as ready
Intellectual disability syndromic and non-syndromic v0.2355 WDR4 Zornitza Stark Gene: wdr4 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2355 WDR4 Zornitza Stark Publications for gene: WDR4 were set to PubMed: 26416026, 30079490, 29597095, 28617965
Intellectual disability syndromic and non-syndromic v0.2354 VARS Zornitza Stark Marked gene: VARS as ready
Intellectual disability syndromic and non-syndromic v0.2354 VARS Zornitza Stark Gene: vars has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2354 VARS Zornitza Stark Publications for gene: VARS were set to PubMed: 30755616, 30755602, 26539891, 29691655, 30275004
Intellectual disability syndromic and non-syndromic v0.2353 TXNL4A Zornitza Stark Marked gene: TXNL4A as ready
Intellectual disability syndromic and non-syndromic v0.2353 TXNL4A Zornitza Stark Gene: txnl4a has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.2353 TXNL4A Zornitza Stark Phenotypes for gene: TXNL4A were changed from to Burn-McKeown syndrome, MIM# 608572
Intellectual disability syndromic and non-syndromic v0.2352 TXNL4A Zornitza Stark Mode of inheritance for gene: TXNL4A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2351 TXNL4A Zornitza Stark Classified gene: TXNL4A as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.2351 TXNL4A Zornitza Stark Gene: txnl4a has been classified as Red List (Low Evidence).
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 v0.2350 TUBGCP4 Zornitza Stark Marked gene: TUBGCP4 as ready
Intellectual disability syndromic and non-syndromic v0.2350 TUBGCP4 Zornitza Stark Gene: tubgcp4 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.2350 TUBGCP4 Zornitza Stark Classified gene: TUBGCP4 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.2350 TUBGCP4 Zornitza Stark Gene: tubgcp4 has been classified as Amber List (Moderate Evidence).
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 v0.2347 TUBA8 Zornitza Stark Publications for gene: TUBA8 were set to
Intellectual disability syndromic and non-syndromic v0.2346 TUBA8 Zornitza Stark Mode of inheritance for gene: TUBA8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2345 TUBA8 Zornitza Stark Classified gene: TUBA8 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.2345 TUBA8 Zornitza Stark Gene: tuba8 has been classified as Red List (Low Evidence).
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 Marked gene: TSHR as ready
Intellectual disability syndromic and non-syndromic v0.2344 TSHR Zornitza Stark Gene: tshr has been classified as Red List (Low Evidence).
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 v0.2343 TSHR Zornitza Stark Mode of inheritance for gene: TSHR was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2342 TSHR Zornitza Stark Mode of inheritance for gene: TSHR was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2341 TSHR Zornitza Stark Classified gene: TSHR as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.2341 TSHR Zornitza Stark Gene: tshr has been classified as Red List (Low Evidence).
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 v0.2340 TSEN15 Zornitza Stark Marked gene: TSEN15 as ready
Intellectual disability syndromic and non-syndromic v0.2340 TSEN15 Zornitza Stark Gene: tsen15 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2340 TSEN15 Zornitza Stark Classified gene: TSEN15 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.2340 TSEN15 Zornitza Stark Gene: tsen15 has been classified as Green List (High Evidence).
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 v0.2338 TRIP13 Zornitza Stark Marked gene: TRIP13 as ready
Intellectual disability syndromic and non-syndromic v0.2338 TRIP13 Zornitza Stark Gene: trip13 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.2338 TRIP13 Zornitza Stark Phenotypes for gene: TRIP13 were changed from to Mosaic variegated aneuploidy syndrome 3, MIM# 617598
Intellectual disability syndromic and non-syndromic v0.2337 TRIP13 Zornitza Stark Publications for gene: TRIP13 were set to
Intellectual disability syndromic and non-syndromic v0.2336 TRIP13 Zornitza Stark Mode of inheritance for gene: TRIP13 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2335 TRIP13 Zornitza Stark Classified gene: TRIP13 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.2335 TRIP13 Zornitza Stark Gene: trip13 has been classified as Amber List (Moderate Evidence).
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 v0.2334 TRIM8 Zornitza Stark Marked gene: TRIM8 as ready
Intellectual disability syndromic and non-syndromic v0.2334 TRIM8 Zornitza Stark Gene: trim8 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2334 TRIM8 Zornitza Stark Classified gene: TRIM8 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.2334 TRIM8 Zornitza Stark Gene: trim8 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2333 TRIM8 Zornitza Stark gene: TRIM8 was added
gene: TRIM8 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list
Mode of inheritance for gene: TRIM8 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TRIM8 were set to 30244534; 27346735; 23934111
Phenotypes for gene: TRIM8 were set to Intellectual disability; Seizures
Review for gene: TRIM8 was set to GREEN
gene: TRIM8 was marked as current diagnostic
Added comment: Six unrelated individuals reported.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.2332 TRAK1 Zornitza Stark Marked gene: TRAK1 as ready
Intellectual disability syndromic and non-syndromic v0.2332 TRAK1 Zornitza Stark Gene: trak1 has been classified as Green List (High Evidence).
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 v0.2331 TRAK1 Zornitza Stark Publications for gene: TRAK1 were set to
Intellectual disability syndromic and non-syndromic v0.2330 TRAK1 Zornitza Stark Mode of inheritance for gene: TRAK1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
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 v0.2329 TRAIP Zornitza Stark Marked gene: TRAIP as ready
Intellectual disability syndromic and non-syndromic v0.2329 TRAIP Zornitza Stark Gene: traip has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2329 TRAIP Zornitza Stark Classified gene: TRAIP as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.2329 TRAIP Zornitza Stark Gene: traip has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2328 TRAIP Zornitza Stark gene: TRAIP was added
gene: TRAIP was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list
Mode of inheritance for gene: TRAIP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TRAIP were set to Seckel syndrome 9, MIM#616777
Review for gene: TRAIP was set to GREEN
gene: TRAIP was marked as current diagnostic
Added comment: Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.2327 TPK1 Zornitza Stark Marked gene: TPK1 as ready
Intellectual disability syndromic and non-syndromic v0.2327 TPK1 Zornitza Stark Gene: tpk1 has been classified as Red List (Low Evidence).
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 v0.2326 TPK1 Zornitza Stark Mode of inheritance for gene: TPK1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2325 TPK1 Zornitza Stark Classified gene: TPK1 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.2325 TPK1 Zornitza Stark Gene: tpk1 has been classified as Red List (Low Evidence).
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 v0.2324 TPH2 Zornitza Stark Marked gene: TPH2 as ready
Intellectual disability syndromic and non-syndromic v0.2324 TPH2 Zornitza Stark Gene: tph2 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.2324 TPH2 Zornitza Stark Phenotypes for gene: TPH2 were changed from to {Attention deficit-hyperactivity disorder, susceptibility to, 7} 613003
Intellectual disability syndromic and non-syndromic v0.2323 TPH2 Zornitza Stark Publications for gene: TPH2 were set to
Intellectual disability syndromic and non-syndromic v0.2322 TPH2 Zornitza Stark Mode of inheritance for gene: TPH2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.2321 TPH2 Zornitza Stark Classified gene: TPH2 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.2321 TPH2 Zornitza Stark Gene: tph2 has been classified as Red List (Low Evidence).
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 v0.2320 SPOP Zornitza Stark Marked gene: SPOP as ready
Intellectual disability syndromic and non-syndromic v0.2320 SPOP Zornitza Stark Gene: spop has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2320 SPOP Zornitza Stark Classified gene: SPOP as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.2320 SPOP Zornitza Stark Gene: spop has been classified as Green List (High Evidence).
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 v0.2318 TNIK Zornitza Stark Marked gene: TNIK as ready
Intellectual disability syndromic and non-syndromic v0.2318 TNIK Zornitza Stark Gene: tnik has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.2318 TNIK Zornitza Stark Phenotypes for gene: TNIK were changed from to Mental retardation, autosomal recessive 54, MIM# 617028
Intellectual disability syndromic and non-syndromic v0.2317 TNIK Zornitza Stark Publications for gene: TNIK were set to
Intellectual disability syndromic and non-syndromic v0.2316 TNIK Zornitza Stark Mode of inheritance for gene: TNIK was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2315 TNIK Zornitza Stark Classified gene: TNIK as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.2315 TNIK Zornitza Stark Gene: tnik has been classified as Amber List (Moderate Evidence).
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 v0.2314 TMLHE Zornitza Stark Marked gene: TMLHE as ready
Intellectual disability syndromic and non-syndromic v0.2314 TMLHE Zornitza Stark Gene: tmlhe has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.2314 TMLHE Zornitza Stark Phenotypes for gene: TMLHE were changed from to {Autism, susceptibility to, X-linked 6} 300872
Intellectual disability syndromic and non-syndromic v0.2313 TMLHE Zornitza Stark Publications for gene: TMLHE were set to 21865298
Intellectual disability syndromic and non-syndromic v0.2313 TMLHE Zornitza Stark Publications for gene: TMLHE were set to
Intellectual disability syndromic and non-syndromic v0.2312 TMLHE Zornitza Stark Mode of inheritance for gene: TMLHE was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Intellectual disability syndromic and non-syndromic v0.2311 TMLHE Zornitza Stark Classified gene: TMLHE as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.2311 TMLHE Zornitza Stark Gene: tmlhe has been classified as Amber List (Moderate Evidence).
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 v0.2310 TMEM94 Zornitza Stark Marked gene: TMEM94 as ready
Intellectual disability syndromic and non-syndromic v0.2310 TMEM94 Zornitza Stark Gene: tmem94 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2310 TMEM94 Zornitza Stark Classified gene: TMEM94 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.2310 TMEM94 Zornitza Stark Gene: tmem94 has been classified as Green List (High Evidence).
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 v0.2308 TMEM260 Zornitza Stark Marked gene: TMEM260 as ready
Intellectual disability syndromic and non-syndromic v0.2308 TMEM260 Zornitza Stark Gene: tmem260 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.2308 TMEM260 Zornitza Stark Phenotypes for gene: TMEM260 were changed from to Structural heart defects and renal anomalies syndrome, MIM# 617478
Intellectual disability syndromic and non-syndromic v0.2307 TMEM260 Zornitza Stark Publications for gene: TMEM260 were set to
Intellectual disability syndromic and non-syndromic v0.2306 TMEM260 Zornitza Stark Mode of inheritance for gene: TMEM260 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2305 TMEM260 Zornitza Stark Classified gene: TMEM260 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.2305 TMEM260 Zornitza Stark Gene: tmem260 has been classified as Red List (Low Evidence).
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 v0.2304 TKT Zornitza Stark Classified gene: TKT as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.2304 TKT Zornitza Stark Gene: tkt has been classified as Amber List (Moderate Evidence).
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 v0.2303 TINF2 Zornitza Stark Marked gene: TINF2 as ready
Intellectual disability syndromic and non-syndromic v0.2303 TINF2 Zornitza Stark Gene: tinf2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2303 TINF2 Zornitza Stark Phenotypes for gene: TINF2 were changed from to Revesz syndrome, MIM# 268130
Intellectual disability syndromic and non-syndromic v0.2302 TINF2 Zornitza Stark Publications for gene: TINF2 were set to
Intellectual disability syndromic and non-syndromic v0.2301 TINF2 Zornitza Stark Mode of inheritance for gene: TINF2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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 v0.2300 TIMM50 Zornitza Stark Marked gene: TIMM50 as ready
Intellectual disability syndromic and non-syndromic v0.2300 TIMM50 Zornitza Stark Gene: timm50 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2300 TIMM50 Zornitza Stark Classified gene: TIMM50 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.2300 TIMM50 Zornitza Stark Gene: timm50 has been classified as Green List (High Evidence).
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 v0.2293 TGFB1 Zornitza Stark Classified gene: TGFB1 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.2293 TGFB1 Zornitza Stark Gene: tgfb1 has been classified as Amber List (Moderate Evidence).
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 v0.2291 TELO2 Zornitza Stark Marked gene: TELO2 as ready
Intellectual disability syndromic and non-syndromic v0.2291 TELO2 Zornitza Stark Gene: telo2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2291 TELO2 Zornitza Stark Classified gene: TELO2 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.2291 TELO2 Zornitza Stark Gene: telo2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2290 TELO2 Zornitza Stark gene: TELO2 was added
gene: TELO2 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list
Mode of inheritance for gene: TELO2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TELO2 were set to 27132593; 28944240
Phenotypes for gene: TELO2 were set to You-Hoover-Fong syndrome, MIM#616954; Syndromic intellectual disability
Review for gene: TELO2 was set to GREEN
Added comment: Five unrelated families reported.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.2289 TECR Zornitza Stark Marked gene: TECR as ready
Intellectual disability syndromic and non-syndromic v0.2289 TECR Zornitza Stark Gene: tecr has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.2289 TECR Zornitza Stark Phenotypes for gene: TECR were changed from to Mental retardation, autosomal recessive, MIM#614020
Intellectual disability syndromic and non-syndromic v0.2288 TECR Zornitza Stark Publications for gene: TECR were set to
Intellectual disability syndromic and non-syndromic v0.2287 TECR Zornitza Stark Mode of inheritance for gene: TECR was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2286 TECR Zornitza Stark Classified gene: TECR as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.2286 TECR Zornitza Stark Gene: tecr has been classified as Red List (Low Evidence).
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 v0.2285 TBC1D7 Zornitza Stark Marked gene: TBC1D7 as ready
Intellectual disability syndromic and non-syndromic v0.2285 TBC1D7 Zornitza Stark Gene: tbc1d7 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.2285 TBC1D7 Zornitza Stark Phenotypes for gene: TBC1D7 were changed from to Macrocephaly/megalencephaly syndrome, autosomal recessive, MIM# 248000
Intellectual disability syndromic and non-syndromic v0.2284 TBC1D7 Zornitza Stark Publications for gene: TBC1D7 were set to
Intellectual disability syndromic and non-syndromic v0.2283 TBC1D7 Zornitza Stark Mode of inheritance for gene: TBC1D7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2282 TBC1D7 Zornitza Stark Classified gene: TBC1D7 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.2282 TBC1D7 Zornitza Stark Gene: tbc1d7 has been classified as Amber List (Moderate Evidence).
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 v0.2281 TAF2 Zornitza Stark Marked gene: TAF2 as ready
Intellectual disability syndromic and non-syndromic v0.2281 TAF2 Zornitza Stark Gene: taf2 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.2281 TAF2 Zornitza Stark Phenotypes for gene: TAF2 were changed from to Mental retardation, autosomal recessive 40, MIM# 615599
Intellectual disability syndromic and non-syndromic v0.2280 TAF2 Zornitza Stark Publications for gene: TAF2 were set to
Intellectual disability syndromic and non-syndromic v0.2279 TAF2 Zornitza Stark Mode of inheritance for gene: TAF2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2278 TAF2 Zornitza Stark Classified gene: TAF2 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.2278 TAF2 Zornitza Stark Gene: taf2 has been classified as Amber List (Moderate Evidence).
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 v0.2277 TAF13 Zornitza Stark Marked gene: TAF13 as ready
Intellectual disability syndromic and non-syndromic v0.2277 TAF13 Zornitza Stark Gene: taf13 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.2277 TAF13 Zornitza Stark Publications for gene: TAF13 were set to
Intellectual disability syndromic and non-syndromic v0.2276 TAF13 Zornitza Stark Phenotypes for gene: TAF13 were changed from to Mental retardation, autosomal recessive 60, MIM# 617432
Intellectual disability syndromic and non-syndromic v0.2275 TAF13 Zornitza Stark Mode of inheritance for gene: TAF13 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2274 TAF13 Zornitza Stark Classified gene: TAF13 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.2274 TAF13 Zornitza Stark Gene: taf13 has been classified as Amber List (Moderate Evidence).
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 v0.2273 SYT14 Zornitza Stark Phenotypes for gene: SYT14 were changed from Spinocerebellar ataxia, autosomal recessive 11, MIM# 614229 to Spinocerebellar ataxia, autosomal recessive 11, MIM# 614229
Intellectual disability syndromic and non-syndromic v0.2272 SYT14 Zornitza Stark Marked gene: SYT14 as ready
Intellectual disability syndromic and non-syndromic v0.2272 SYT14 Zornitza Stark Gene: syt14 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.2272 SYT14 Zornitza Stark Phenotypes for gene: SYT14 were changed from to Spinocerebellar ataxia, autosomal recessive 11, MIM# 614229
Intellectual disability syndromic and non-syndromic v0.2271 SYT14 Zornitza Stark Publications for gene: SYT14 were set to
Intellectual disability syndromic and non-syndromic v0.2270 SYT14 Zornitza Stark Mode of inheritance for gene: SYT14 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2269 SYT14 Zornitza Stark Classified gene: SYT14 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.2269 SYT14 Zornitza Stark Gene: syt14 has been classified as Red List (Low Evidence).
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 v0.2267 SUFU Zornitza Stark Marked gene: SUFU as ready
Intellectual disability syndromic and non-syndromic v0.2267 SUFU Zornitza Stark Gene: sufu has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.2267 SUFU Zornitza Stark Classified gene: SUFU as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.2267 SUFU Zornitza Stark Gene: sufu has been classified as Amber List (Moderate Evidence).
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 v0.2265 STX11 Zornitza Stark Marked gene: STX11 as ready
Intellectual disability syndromic and non-syndromic v0.2265 STX11 Zornitza Stark Gene: stx11 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.2265 STX11 Zornitza Stark Phenotypes for gene: STX11 were changed from to Hemophagocytic lymphohistiocytosis, familial, 4, MIM# 603552
Intellectual disability syndromic and non-syndromic v0.2264 STX11 Zornitza Stark Mode of inheritance for gene: STX11 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2263 STX11 Zornitza Stark Classified gene: STX11 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.2263 STX11 Zornitza Stark Gene: stx11 has been classified as Red List (Low Evidence).
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 v0.2262 STRADA Zornitza Stark Marked gene: STRADA as ready
Intellectual disability syndromic and non-syndromic v0.2262 STRADA Zornitza Stark Gene: strada has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2262 STRADA Zornitza Stark Classified gene: STRADA as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.2262 STRADA Zornitza Stark Gene: strada has been classified as Green List (High Evidence).
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 v0.2260 SRPX2 Zornitza Stark Marked gene: SRPX2 as ready
Intellectual disability syndromic and non-syndromic v0.2260 SRPX2 Zornitza Stark Gene: srpx2 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.2260 SRPX2 Zornitza Stark Phenotypes for gene: SRPX2 were changed from to Rolandic epilepsy, mental retardation, and speech dyspraxia, MIM# 300643
Intellectual disability syndromic and non-syndromic v0.2259 SRPX2 Zornitza Stark Publications for gene: SRPX2 were set to
Intellectual disability syndromic and non-syndromic v0.2258 SRPX2 Zornitza Stark Mode of inheritance for gene: SRPX2 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Intellectual disability syndromic and non-syndromic v0.2257 SRPX2 Zornitza Stark Classified gene: SRPX2 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.2257 SRPX2 Zornitza Stark Gene: srpx2 has been classified as Red List (Low Evidence).
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 v0.2256 SPRTN Zornitza Stark Marked gene: SPRTN as ready
Intellectual disability syndromic and non-syndromic v0.2256 SPRTN Zornitza Stark Gene: sprtn has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.2256 SPRTN Zornitza Stark Phenotypes for gene: SPRTN were changed from to Ruijs-Aalfs syndrome, MIM# 616200
Intellectual disability syndromic and non-syndromic v0.2255 SPRTN Zornitza Stark Publications for gene: SPRTN were set to
Intellectual disability syndromic and non-syndromic v0.2254 SPRTN Zornitza Stark Mode of inheritance for gene: SPRTN was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2253 SPRTN Zornitza Stark Classified gene: SPRTN as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.2253 SPRTN Zornitza Stark Gene: sprtn has been classified as Red List (Low Evidence).
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 v0.2252 KMT2A Zornitza Stark Marked gene: KMT2A as ready
Intellectual disability syndromic and non-syndromic v0.2252 KMT2A Zornitza Stark Gene: kmt2a has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2252 KMT2A Zornitza Stark Phenotypes for gene: KMT2A were changed from to Wiedemann-Steiner syndrome, MIM# 605130 AD
Intellectual disability syndromic and non-syndromic v0.2251 KMT2A Zornitza Stark Mode of inheritance for gene: KMT2A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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 v0.2250 CEP135 Zornitza Stark Marked gene: CEP135 as ready
Intellectual disability syndromic and non-syndromic v0.2250 CEP135 Zornitza Stark Gene: cep135 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2250 CEP135 Zornitza Stark Phenotypes for gene: CEP135 were changed from Microcephalic primordial dwarfism; Microcephaly 8, primary, autosomal recessive, 614673 to Microcephalic primordial dwarfism; Microcephaly 8, primary, autosomal recessive, 614673
Intellectual disability syndromic and non-syndromic v0.2250 CEP135 Zornitza Stark Phenotypes for gene: CEP135 were changed from to Microcephalic primordial dwarfism; Microcephaly 8, primary, autosomal recessive, 614673
Intellectual disability syndromic and non-syndromic v0.2249 CEP135 Zornitza Stark Publications for gene: CEP135 were set to
Intellectual disability syndromic and non-syndromic v0.2248 CEP135 Zornitza Stark Mode of inheritance for gene: CEP135 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
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 v0.2247 CDK13 Zornitza Stark Phenotypes for gene: CDK13 were changed from Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder, 617360 to Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder, 617360
Intellectual disability syndromic and non-syndromic v0.2247 CDK13 Zornitza Stark Marked gene: CDK13 as ready
Intellectual disability syndromic and non-syndromic v0.2247 CDK13 Zornitza Stark Gene: cdk13 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2247 CDK13 Zornitza Stark Phenotypes for gene: CDK13 were changed from to Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder, 617360
Intellectual disability syndromic and non-syndromic v0.2246 CDK13 Zornitza Stark Publications for gene: CDK13 were set to
Intellectual disability syndromic and non-syndromic v0.2245 CDK13 Zornitza Stark Mode of inheritance for gene: CDK13 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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 v0.2244 SPG7 Zornitza Stark Classified gene: SPG7 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.2244 SPG7 Zornitza Stark Gene: spg7 has been classified as Red List (Low Evidence).
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 v0.2243 SPAST Zornitza Stark Marked gene: SPAST as ready
Intellectual disability syndromic and non-syndromic v0.2243 SPAST Zornitza Stark Gene: spast has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.2243 SPAST Zornitza Stark Phenotypes for gene: SPAST were changed from to Spastic paraplegia 4, autosomal dominant, MIM# 182601
Intellectual disability syndromic and non-syndromic v0.2242 SPAST Zornitza Stark Mode of inheritance for gene: SPAST was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.2241 SPAST Zornitza Stark Classified gene: SPAST as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.2241 SPAST Zornitza Stark Gene: spast has been classified as Red List (Low Evidence).
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 v0.2240 SOS2 Zornitza Stark Marked gene: SOS2 as ready
Intellectual disability syndromic and non-syndromic v0.2240 SOS2 Zornitza Stark Gene: sos2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2240 SOS2 Zornitza Stark Classified gene: SOS2 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.2240 SOS2 Zornitza Stark Gene: sos2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2239 SOS2 Zornitza Stark gene: SOS2 was added
gene: SOS2 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list
Mode of inheritance for gene: SOS2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SOS2 were set to Noonan syndrome 9, MIM# 616559
Review for gene: SOS2 was set to GREEN
Added comment: Sources: Expert list
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 Marked gene: RASA1 as ready
Intellectual disability syndromic and non-syndromic v0.2238 RASA1 Sebastian Lunke Gene: rasa1 has been classified as Red List (Low Evidence).
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 v0.2236 ZFHX3 Zornitza Stark Classified gene: ZFHX3 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.2236 ZFHX3 Zornitza Stark Gene: zfhx3 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.2235 SOBP Zornitza Stark Marked gene: SOBP as ready
Intellectual disability syndromic and non-syndromic v0.2235 SOBP Zornitza Stark Gene: sobp has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.2235 SOBP Zornitza Stark Phenotypes for gene: SOBP were changed from Mental retardation, anterior maxillary protrusion, and strabismus, MIM# 613671 to Mental retardation, anterior maxillary protrusion, and strabismus, MIM# 613671
Intellectual disability syndromic and non-syndromic v0.2234 SOBP Zornitza Stark Phenotypes for gene: SOBP were changed from to Mental retardation, anterior maxillary protrusion, and strabismus, MIM# 613671
Intellectual disability syndromic and non-syndromic v0.2234 SOBP Zornitza Stark Publications for gene: SOBP were set to 21035105
Intellectual disability syndromic and non-syndromic v0.2233 SOBP Zornitza Stark Publications for gene: SOBP were set to
Intellectual disability syndromic and non-syndromic v0.2233 SOBP Zornitza Stark Mode of inheritance for gene: SOBP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2232 SOBP Zornitza Stark Classified gene: SOBP as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.2232 SOBP Zornitza Stark Gene: sobp has been classified as Red List (Low Evidence).
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 v0.2231 SNORD118 Zornitza Stark Classified gene: SNORD118 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.2231 SNORD118 Zornitza Stark Gene: snord118 has been classified as Amber List (Moderate Evidence).
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 v0.2230 SNIP1 Zornitza Stark Marked gene: SNIP1 as ready
Intellectual disability syndromic and non-syndromic v0.2230 SNIP1 Zornitza Stark Gene: snip1 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.2230 SNIP1 Zornitza Stark Phenotypes for gene: SNIP1 were changed from Psychomotor retardation, epilepsy, and craniofacial dysmorphism, MIM# 614501 to Psychomotor retardation, epilepsy, and craniofacial dysmorphism, MIM# 614501
Intellectual disability syndromic and non-syndromic v0.2229 SNIP1 Zornitza Stark Phenotypes for gene: SNIP1 were changed from to Psychomotor retardation, epilepsy, and craniofacial dysmorphism, MIM# 614501
Intellectual disability syndromic and non-syndromic v0.2229 SNIP1 Zornitza Stark Publications for gene: SNIP1 were set to 22279524
Intellectual disability syndromic and non-syndromic v0.2228 SNIP1 Zornitza Stark Publications for gene: SNIP1 were set to
Intellectual disability syndromic and non-syndromic v0.2228 SNIP1 Zornitza Stark Mode of inheritance for gene: SNIP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2227 SNIP1 Zornitza Stark Classified gene: SNIP1 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.2227 SNIP1 Zornitza Stark Gene: snip1 has been classified as Red List (Low Evidence).
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 v0.2226 SMG9 Zornitza Stark Marked gene: SMG9 as ready
Intellectual disability syndromic and non-syndromic v0.2226 SMG9 Zornitza Stark Gene: smg9 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2226 SMG9 Zornitza Stark Classified gene: SMG9 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.2226 SMG9 Zornitza Stark Gene: smg9 has been classified as Green List (High Evidence).
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 v0.2224 SMARCD2 Zornitza Stark Marked gene: SMARCD2 as ready
Intellectual disability syndromic and non-syndromic v0.2224 SMARCD2 Zornitza Stark Gene: smarcd2 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.2224 SMARCD2 Zornitza Stark Classified gene: SMARCD2 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.2224 SMARCD2 Zornitza Stark Gene: smarcd2 has been classified as Amber List (Moderate Evidence).
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 v0.2222 PIGA Zornitza Stark Marked gene: PIGA as ready
Intellectual disability syndromic and non-syndromic v0.2222 PIGA Zornitza Stark Gene: piga has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2222 PIGA Zornitza Stark Phenotypes for gene: PIGA were changed from to Multiple congenital anomalies-hypotonia-seizures syndrome 2, MIM#300868
Intellectual disability syndromic and non-syndromic v0.2221 PIGA Zornitza Stark Publications for gene: PIGA were set to
Intellectual disability syndromic and non-syndromic v0.2220 PIGA Zornitza Stark Mode of inheritance for gene: PIGA was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
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 v0.2219 SLC9A9 Zornitza Stark Marked gene: SLC9A9 as ready
Intellectual disability syndromic and non-syndromic v0.2219 SLC9A9 Zornitza Stark Gene: slc9a9 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.2219 SLC9A9 Zornitza Stark Phenotypes for gene: SLC9A9 were changed from to {?Autism susceptibility 16}, MIM# 613410
Intellectual disability syndromic and non-syndromic v0.2218 SLC9A9 Zornitza Stark Publications for gene: SLC9A9 were set to
Intellectual disability syndromic and non-syndromic v0.2217 SLC9A9 Zornitza Stark Classified gene: SLC9A9 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.2217 SLC9A9 Zornitza Stark Gene: slc9a9 has been classified as Red List (Low Evidence).
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 v0.2216 SLC7A7 Zornitza Stark Marked gene: SLC7A7 as ready
Intellectual disability syndromic and non-syndromic v0.2216 SLC7A7 Zornitza Stark Gene: slc7a7 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.2216 SLC7A7 Zornitza Stark Phenotypes for gene: SLC7A7 were changed from to Lysinuric protein intolerance, MIM# 222700
Intellectual disability syndromic and non-syndromic v0.2215 SLC7A7 Zornitza Stark Mode of inheritance for gene: SLC7A7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2214 SLC7A7 Zornitza Stark Classified gene: SLC7A7 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.2214 SLC7A7 Zornitza Stark Gene: slc7a7 has been classified as Red List (Low Evidence).
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 v0.2213 SLC6A4 Zornitza Stark Marked gene: SLC6A4 as ready
Intellectual disability syndromic and non-syndromic v0.2213 SLC6A4 Zornitza Stark Gene: slc6a4 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.2213 SLC6A4 Zornitza Stark Phenotypes for gene: SLC6A4 were changed from {Obsessive-compulsive disorder}, MIM# 164230; depression; alcohol dependence to {Obsessive-compulsive disorder}, MIM# 164230; depression; alcohol dependence
Intellectual disability syndromic and non-syndromic v0.2212 SLC6A4 Zornitza Stark Phenotypes for gene: SLC6A4 were changed from to {Obsessive-compulsive disorder}, MIM# 164230; depression; alcohol dependence
Intellectual disability syndromic and non-syndromic v0.2212 SLC6A4 Zornitza Stark Mode of inheritance for gene: SLC6A4 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.2211 SLC6A4 Zornitza Stark Publications for gene: SLC6A4 were set to
Intellectual disability syndromic and non-syndromic v0.2211 SLC6A4 Zornitza Stark Mode of inheritance for gene: SLC6A4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.2210 SLC6A4 Zornitza Stark Classified gene: SLC6A4 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.2210 SLC6A4 Zornitza Stark Gene: slc6a4 has been classified as Red List (Low Evidence).
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 v0.2209 PNKP Zornitza Stark Marked gene: PNKP as ready
Intellectual disability syndromic and non-syndromic v0.2209 PNKP Zornitza Stark Added comment: Comment when marking as ready: Note 17-bp duplication (1250_1266dup) in exon 14 identified in multiple individuals.
Intellectual disability syndromic and non-syndromic v0.2209 PNKP Zornitza Stark Gene: pnkp has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2209 PNKP Zornitza Stark Phenotypes for gene: PNKP were changed from to Microcephaly, seizures, and developmental delay, MIM#613402
Intellectual disability syndromic and non-syndromic v0.2208 PNKP Zornitza Stark Publications for gene: PNKP were set to
Intellectual disability syndromic and non-syndromic v0.2207 PNKP Zornitza Stark Mode of inheritance for gene: PNKP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
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 v0.2206 SLC25A24 Zornitza Stark Marked gene: SLC25A24 as ready
Intellectual disability syndromic and non-syndromic v0.2206 SLC25A24 Zornitza Stark Gene: slc25a24 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.2206 SLC25A24 Zornitza Stark Phenotypes for gene: SLC25A24 were changed from to Fontaine progeroid syndrome, MIM#612289
Intellectual disability syndromic and non-syndromic v0.2205 SLC25A24 Zornitza Stark Mode of inheritance for gene: SLC25A24 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.2204 SLC25A24 Zornitza Stark Classified gene: SLC25A24 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.2204 SLC25A24 Zornitza Stark Gene: slc25a24 has been classified as Red List (Low Evidence).
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 v0.2203 SLC25A19 Zornitza Stark Classified gene: SLC25A19 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.2203 SLC25A19 Zornitza Stark Gene: slc25a19 has been classified as Red List (Low Evidence).
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 v0.2202 SLC1A2 Zornitza Stark Marked gene: SLC1A2 as ready
Intellectual disability syndromic and non-syndromic v0.2202 SLC1A2 Zornitza Stark Gene: slc1a2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2202 SLC1A2 Zornitza Stark Classified gene: SLC1A2 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.2202 SLC1A2 Zornitza Stark Gene: slc1a2 has been classified as Green List (High Evidence).
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 v0.2200 SHROOM4 Zornitza Stark Marked gene: SHROOM4 as ready
Intellectual disability syndromic and non-syndromic v0.2200 SHROOM4 Zornitza Stark Gene: shroom4 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.2200 SHROOM4 Zornitza Stark Phenotypes for gene: SHROOM4 were changed from to Stocco dos Santos X-linked mental retardation syndrome, 300434; Intellectual disability
Intellectual disability syndromic and non-syndromic v0.2199 SHROOM4 Zornitza Stark Publications for gene: SHROOM4 were set to
Intellectual disability syndromic and non-syndromic v0.2198 SHROOM4 Zornitza Stark Mode of inheritance for gene: SHROOM4 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Intellectual disability syndromic and non-syndromic v0.2197 SHROOM4 Zornitza Stark Classified gene: SHROOM4 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.2197 SHROOM4 Zornitza Stark Gene: shroom4 has been classified as Amber List (Moderate Evidence).
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 Marked gene: CHD2 as ready
Intellectual disability syndromic and non-syndromic v0.2196 CHD2 Zornitza Stark Gene: chd2 has been classified as Green List (High Evidence).
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 v0.2195 CHD2 Zornitza Stark Mode of inheritance for gene: CHD2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.2194 INTS1 Zornitza Stark Marked gene: INTS1 as ready
Intellectual disability syndromic and non-syndromic v0.2194 INTS1 Zornitza Stark Gene: ints1 has been classified as Green List (High Evidence).
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 v0.2193 INTS1 Zornitza Stark Publications for gene: INTS1 were set to
Intellectual disability syndromic and non-syndromic v0.2192 INTS1 Zornitza Stark Mode of inheritance for gene: INTS1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
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 v0.2191 SEMA3E Zornitza Stark Classified gene: SEMA3E as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.2191 SEMA3E Zornitza Stark Gene: sema3e has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.2190 SACS Zornitza Stark Marked gene: SACS as ready
Intellectual disability syndromic and non-syndromic v0.2190 SACS Zornitza Stark Gene: sacs has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.2190 SACS Zornitza Stark Phenotypes for gene: SACS were changed from to Spastic ataxia, Charlevoix-Saguenay type, MIM# 270550
Intellectual disability syndromic and non-syndromic v0.2189 SACS Zornitza Stark Publications for gene: SACS were set to
Intellectual disability syndromic and non-syndromic v0.2188 SACS Zornitza Stark Mode of inheritance for gene: SACS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2187 SACS Zornitza Stark Classified gene: SACS as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.2187 SACS Zornitza Stark Gene: sacs has been classified as Amber List (Moderate Evidence).
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 Tag SV/CNV tag was added to gene: SOX3.
Intellectual disability syndromic and non-syndromic v0.2186 SOX3 Zornitza Stark Marked gene: SOX3 as ready
Intellectual disability syndromic and non-syndromic v0.2186 SOX3 Zornitza Stark Gene: sox3 has been classified as Amber List (Moderate Evidence).
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 v0.2185 SOX3 Zornitza Stark Publications for gene: SOX3 were set to
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 v0.2183 SOX3 Zornitza Stark Mode of inheritance for gene: SOX3 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Intellectual disability syndromic and non-syndromic v0.2182 SOX3 Zornitza Stark Classified gene: SOX3 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.2182 SOX3 Zornitza Stark Gene: sox3 has been classified as Amber List (Moderate Evidence).
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 v0.2181 PUF60 Zornitza Stark Marked gene: PUF60 as ready
Intellectual disability syndromic and non-syndromic v0.2181 PUF60 Zornitza Stark Gene: puf60 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2181 PUF60 Zornitza Stark Phenotypes for gene: PUF60 were changed from to Verheij syndrome, MIM# 615583
Intellectual disability syndromic and non-syndromic v0.2180 PUF60 Zornitza Stark Publications for gene: PUF60 were set to
Intellectual disability syndromic and non-syndromic v0.2179 PUF60 Zornitza Stark Mode of inheritance for gene: PUF60 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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 v0.2178 PTRHD1 Zornitza Stark Marked gene: PTRHD1 as ready
Intellectual disability syndromic and non-syndromic v0.2178 PTRHD1 Zornitza Stark Gene: ptrhd1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2178 PTRHD1 Zornitza Stark Classified gene: PTRHD1 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.2178 PTRHD1 Zornitza Stark Gene: ptrhd1 has been classified as Green List (High Evidence).
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 v0.2176 PTRH2 Zornitza Stark Marked gene: PTRH2 as ready
Intellectual disability syndromic and non-syndromic v0.2176 PTRH2 Zornitza Stark Gene: ptrh2 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.2176 PTRH2 Zornitza Stark Classified gene: PTRH2 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.2176 PTRH2 Zornitza Stark Gene: ptrh2 has been classified as Amber List (Moderate Evidence).
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 v0.2174 PSAT1 Zornitza Stark Marked gene: PSAT1 as ready
Intellectual disability syndromic and non-syndromic v0.2174 PSAT1 Zornitza Stark Gene: psat1 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.2174 PSAT1 Zornitza Stark Phenotypes for gene: PSAT1 were changed from to Phosphoserine aminotransferase deficiency, MIM# 610992; Neu-Laxova syndrome 2, MIM# 616038
Intellectual disability syndromic and non-syndromic v0.2173 PSAT1 Zornitza Stark Publications for gene: PSAT1 were set to
Intellectual disability syndromic and non-syndromic v0.2172 PSAT1 Zornitza Stark Mode of inheritance for gene: PSAT1 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2172 PSAT1 Zornitza Stark Mode of inheritance for gene: PSAT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2171 PSAT1 Zornitza Stark Classified gene: PSAT1 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.2171 PSAT1 Zornitza Stark Gene: psat1 has been classified as Amber List (Moderate Evidence).
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 v0.2169 PRRT2 Zornitza Stark Publications for gene: PRRT2 were set to
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 v0.2167 PRRT2 Zornitza Stark Classified gene: PRRT2 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.2167 PRRT2 Zornitza Stark Gene: prrt2 has been classified as Amber List (Moderate Evidence).
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 Marked gene: PRRT2 as ready
Intellectual disability syndromic and non-syndromic v0.2166 PRRT2 Zornitza Stark Gene: prrt2 has been classified as Red List (Low Evidence).
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 v0.2165 PRRT2 Zornitza Stark Mode of inheritance for gene: PRRT2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.2164 PRRT2 Zornitza Stark Classified gene: PRRT2 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.2164 PRRT2 Zornitza Stark Gene: prrt2 has been classified as Red List (Low Evidence).
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 v0.2163 POU1F1 Zornitza Stark Marked gene: POU1F1 as ready
Intellectual disability syndromic and non-syndromic v0.2163 POU1F1 Zornitza Stark Gene: pou1f1 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.2163 POU1F1 Zornitza Stark Phenotypes for gene: POU1F1 were changed from to Pituitary hormone deficiency, combined, 1, MIM# 613038
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 v0.2161 POU1F1 Zornitza Stark Classified gene: POU1F1 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.2161 POU1F1 Zornitza Stark Gene: pou1f1 has been classified as Red List (Low Evidence).
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 v0.2160 POLR1C Zornitza Stark Marked gene: POLR1C as ready
Intellectual disability syndromic and non-syndromic v0.2160 POLR1C Zornitza Stark Gene: polr1c has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2160 POLR1C Zornitza Stark Classified gene: POLR1C as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.2160 POLR1C Zornitza Stark Gene: polr1c has been classified as Green List (High Evidence).
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 v0.2158 PNP Zornitza Stark Classified gene: PNP as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.2158 PNP Zornitza Stark Gene: pnp has been classified as Red List (Low Evidence).
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 v0.2157 PMPCA Zornitza Stark Marked gene: PMPCA as ready
Intellectual disability syndromic and non-syndromic v0.2157 PMPCA Zornitza Stark Gene: pmpca has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2157 PMPCA Zornitza Stark Classified gene: PMPCA as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.2157 PMPCA Zornitza Stark Gene: pmpca has been classified as Green List (High Evidence).
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 Marked gene: GFER as ready
Intellectual disability syndromic and non-syndromic v0.2155 GFER Zornitza Stark Gene: gfer has been classified as Green List (High Evidence).
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 v0.2154 GFER Zornitza Stark Publications for gene: GFER were set to
Intellectual disability syndromic and non-syndromic v0.2153 GFER Zornitza Stark Mode of inheritance for gene: GFER was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
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 v0.2152 RPIA Sebastian Lunke Marked gene: RPIA as ready
Intellectual disability syndromic and non-syndromic v0.2152 RPIA Sebastian Lunke Gene: rpia has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2152 RPIA Sebastian Lunke Classified gene: RPIA as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.2152 RPIA Sebastian Lunke Gene: rpia has been classified as Green List (High Evidence).
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 v0.2150 PLEKHG2 Zornitza Stark Marked gene: PLEKHG2 as ready
Intellectual disability syndromic and non-syndromic v0.2150 PLEKHG2 Zornitza Stark Gene: plekhg2 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.2150 PLEKHG2 Zornitza Stark Classified gene: PLEKHG2 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.2150 PLEKHG2 Zornitza Stark Gene: plekhg2 has been classified as Amber List (Moderate Evidence).
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 v0.2148 PITRM1 Zornitza Stark Marked gene: PITRM1 as ready
Intellectual disability syndromic and non-syndromic v0.2148 PITRM1 Zornitza Stark Gene: pitrm1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2148 PITRM1 Zornitza Stark Classified gene: PITRM1 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.2148 PITRM1 Zornitza Stark Gene: pitrm1 has been classified as Green List (High Evidence).
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 v0.2146 PIK3C2A Zornitza Stark Marked gene: PIK3C2A as ready
Intellectual disability syndromic and non-syndromic v0.2146 PIK3C2A Zornitza Stark Gene: pik3c2a has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2146 PIK3C2A Zornitza Stark Classified gene: PIK3C2A as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.2146 PIK3C2A Zornitza Stark Gene: pik3c2a has been classified as Green List (High Evidence).
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 Marked gene: MECP2 as ready
Intellectual disability syndromic and non-syndromic v0.2144 MECP2 Zornitza Stark Gene: mecp2 has been classified as Green List (High Evidence).
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 v0.2143 MECP2 Zornitza Stark Publications for gene: MECP2 were set to
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 v0.2141 VARS Chirag Patel Classified gene: VARS as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.2141 VARS Chirag Patel Gene: vars has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2140 VARS Chirag Patel Classified gene: VARS as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.2140 VARS Chirag Patel Gene: vars has been classified as Green List (High Evidence).
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 v0.2138 WDR4 Chirag Patel Classified gene: WDR4 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.2138 WDR4 Chirag Patel Gene: wdr4 has been classified as Green List (High Evidence).
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 v0.2136 XIST Chirag Patel Classified gene: XIST as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.2136 XIST Chirag Patel Gene: xist has been classified as Red List (Low Evidence).
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 v0.2135 YAP1 Chirag Patel Classified gene: YAP1 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.2135 YAP1 Chirag Patel Gene: yap1 has been classified as Amber List (Moderate Evidence).
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 v0.2134 UNC13A Zornitza Stark Marked gene: UNC13A as ready
Intellectual disability syndromic and non-syndromic v0.2134 UNC13A Zornitza Stark Gene: unc13a has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.2134 WFS1 Chirag Patel changed review comment from: Very clear ID gene.; to: ID is a feature of condition, albeit rare.
Intellectual disability syndromic and non-syndromic v0.2134 UNC13A Zornitza Stark Publications for gene: UNC13A were set to
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 v0.2133 VPS37A Chirag Patel Classified gene: VPS37A as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.2133 VPS37A Chirag Patel Gene: vps37a has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.2133 VPS37A Chirag Patel Classified gene: VPS37A as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.2133 VPS37A Chirag Patel Gene: vps37a has been classified as Amber List (Moderate Evidence).
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 v0.2132 UPB1 Chirag Patel Classified gene: UPB1 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.2132 UPB1 Chirag Patel Gene: upb1 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.2132 UPB1 Chirag Patel Classified gene: UPB1 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.2132 UPB1 Chirag Patel Gene: upb1 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.2132 UPB1 Chirag Patel Classified gene: UPB1 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.2132 UPB1 Chirag Patel Gene: upb1 has been classified as Amber List (Moderate Evidence).
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 v0.2131 UFC1 Chirag Patel Classified gene: UFC1 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.2131 UFC1 Chirag Patel Gene: ufc1 has been classified as Green List (High Evidence).
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 v0.2127 UNC13A Zornitza Stark Classified gene: UNC13A as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.2127 UNC13A Zornitza Stark Gene: unc13a has been classified as Red List (Low Evidence).
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 v0.2126 PIGP Zornitza Stark Marked gene: PIGP as ready
Intellectual disability syndromic and non-syndromic v0.2126 PIGP Zornitza Stark Gene: pigp has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.2126 PIGP Zornitza Stark Classified gene: PIGP as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.2126 PIGP Zornitza Stark Gene: pigp has been classified as Amber List (Moderate Evidence).
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 v0.2124 ZBTB11 Chirag Patel Classified gene: ZBTB11 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.2124 ZBTB11 Chirag Patel Gene: zbtb11 has been classified as Amber List (Moderate Evidence).
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 v0.2123 ZBTB16 Chirag Patel Classified gene: ZBTB16 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.2123 ZBTB16 Chirag Patel Gene: zbtb16 has been classified as Amber List (Moderate Evidence).
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 v0.2120 ZFHX3 Chirag Patel Classified gene: ZFHX3 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.2120 ZFHX3 Chirag Patel Gene: zfhx3 has been classified as Red List (Low Evidence).
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 v0.2119 ZNF81 Chirag Patel Classified gene: ZNF81 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.2119 ZNF81 Chirag Patel Gene: znf81 has been classified as Amber List (Moderate Evidence).
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 v0.2118 ZIC1 Chirag Patel Classified gene: ZIC1 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.2118 ZIC1 Chirag Patel Gene: zic1 has been classified as Green List (High Evidence).
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 v0.2116 ZNF148 Chirag Patel Classified gene: ZNF148 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.2116 ZNF148 Chirag Patel Gene: znf148 has been classified as Green List (High Evidence).
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 v0.2114 EML1 Zornitza Stark Marked gene: EML1 as ready
Intellectual disability syndromic and non-syndromic v0.2114 EML1 Zornitza Stark Gene: eml1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2114 EML1 Zornitza Stark Phenotypes for gene: EML1 were changed from to Band heterotopia (MIM# 600348)
Intellectual disability syndromic and non-syndromic v0.2113 EML1 Zornitza Stark Publications for gene: EML1 were set to
Intellectual disability syndromic and non-syndromic v0.2112 EML1 Zornitza Stark Mode of inheritance for gene: EML1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
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 v0.2111 WAC Zornitza Stark Marked gene: WAC as ready
Intellectual disability syndromic and non-syndromic v0.2111 WAC Zornitza Stark Gene: wac has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2111 WAC Zornitza Stark Phenotypes for gene: WAC were changed from to Desanto-Shinawi syndrome 616708
Intellectual disability syndromic and non-syndromic v0.2110 WAC Zornitza Stark Publications for gene: WAC were set to
Intellectual disability syndromic and non-syndromic v0.2109 WAC Zornitza Stark Mode of inheritance for gene: WAC was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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 v0.2108 PIGH Zornitza Stark Marked gene: PIGH as ready
Intellectual disability syndromic and non-syndromic v0.2108 PIGH Zornitza Stark Gene: pigh has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2108 PIGH Zornitza Stark Publications for gene: PIGH were set to 29573052; 29603510
Intellectual disability syndromic and non-syndromic v0.2107 PIGH Zornitza Stark Classified gene: PIGH as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.2107 PIGH Zornitza Stark Gene: pigh has been classified as Green List (High Evidence).
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 Marked gene: PIEZO2 as ready
Intellectual disability syndromic and non-syndromic v0.2105 PIEZO2 Zornitza Stark Gene: piezo2 has been classified as Amber List (Moderate Evidence).
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 v0.2104 PIEZO2 Zornitza Stark Publications for gene: PIEZO2 were set to 24726473
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 Publications for gene: PIEZO2 were set to
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 v0.2102 PIEZO2 Zornitza Stark Mode of inheritance for gene: PIEZO2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.2102 PIEZO2 Zornitza Stark Classified gene: PIEZO2 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.2102 PIEZO2 Zornitza Stark Gene: piezo2 has been classified as Amber List (Moderate Evidence).
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 Marked gene: PHACTR1 as ready
Intellectual disability syndromic and non-syndromic v0.2101 PHACTR1 Zornitza Stark Gene: phactr1 has been classified as Green List (High Evidence).
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 v0.2100 PHACTR1 Zornitza Stark Classified gene: PHACTR1 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.2100 PHACTR1 Zornitza Stark Gene: phactr1 has been classified as Green List (High Evidence).
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 v0.2098 PET100 Zornitza Stark Marked gene: PET100 as ready
Intellectual disability syndromic and non-syndromic v0.2098 PET100 Zornitza Stark Gene: pet100 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2098 PET100 Zornitza Stark Phenotypes for gene: PET100 were changed from Mitochondrial complex IV deficiency, MIM# 220110 to Mitochondrial complex IV deficiency, MIM# 220110
Intellectual disability syndromic and non-syndromic v0.2097 PET100 Zornitza Stark Phenotypes for gene: PET100 were changed from to Mitochondrial complex IV deficiency, MIM# 220110
Intellectual disability syndromic and non-syndromic v0.2096 PET100 Zornitza Stark Publications for gene: PET100 were set to
Intellectual disability syndromic and non-syndromic v0.2095 PET100 Zornitza Stark Mode of inheritance for gene: PET100 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
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 v0.2094 PDHB Zornitza Stark Mode of inheritance for gene: PDHB was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2093 PDHB Zornitza Stark Mode of inheritance for gene: PDHB was changed from Unknown to 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 v0.2092 PCDH10 Zornitza Stark Marked gene: PCDH10 as ready
Intellectual disability syndromic and non-syndromic v0.2092 PCDH10 Zornitza Stark Gene: pcdh10 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.2092 PCDH10 Zornitza Stark Phenotypes for gene: PCDH10 were changed from Autism to Autism
Intellectual disability syndromic and non-syndromic v0.2091 PCDH10 Zornitza Stark Phenotypes for gene: PCDH10 were changed from to Autism
Intellectual disability syndromic and non-syndromic v0.2090 PCDH10 Zornitza Stark Publications for gene: PCDH10 were set to
Intellectual disability syndromic and non-syndromic v0.2089 PCDH10 Zornitza Stark Mode of inheritance for gene: PCDH10 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.2088 PCDH10 Zornitza Stark Classified gene: PCDH10 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.2088 PCDH10 Zornitza Stark Gene: pcdh10 has been classified as Red List (Low Evidence).
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 Marked gene: PAX7 as ready
Intellectual disability syndromic and non-syndromic v0.2087 PAX7 Zornitza Stark Gene: pax7 has been classified as Red List (Low Evidence).
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 v0.2086 PAX7 Zornitza Stark Mode of inheritance for gene: PAX7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2085 PAX7 Zornitza Stark Classified gene: PAX7 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.2085 PAX7 Zornitza Stark Gene: pax7 has been classified as Red List (Low Evidence).
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 v0.2084 OSGEP Zornitza Stark Marked gene: OSGEP as ready
Intellectual disability syndromic and non-syndromic v0.2084 OSGEP Zornitza Stark Gene: osgep has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2084 OSGEP Zornitza Stark Classified gene: OSGEP as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.2084 OSGEP Zornitza Stark Gene: osgep has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2083 OSGEP Zornitza Stark gene: OSGEP was added
gene: OSGEP was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list
Mode of inheritance for gene: OSGEP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: OSGEP were set to 28805828; 28272532
Phenotypes for gene: OSGEP were set to Galloway-Mowat syndrome 3, MIM# 617729
Review for gene: OSGEP was set to GREEN
gene: OSGEP was marked as current diagnostic
Added comment: 25 families reported.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.2082 ORC1 Zornitza Stark Marked gene: ORC1 as ready
Intellectual disability syndromic and non-syndromic v0.2082 ORC1 Zornitza Stark Gene: orc1 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.2082 ORC1 Zornitza Stark Phenotypes for gene: ORC1 were changed from to Meier-Gorlin syndrome 1, MIM# 224690
Intellectual disability syndromic and non-syndromic v0.2081 ORC1 Zornitza Stark Mode of inheritance for gene: ORC1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2081 ORC1 Zornitza Stark Classified gene: ORC1 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.2081 ORC1 Zornitza Stark Gene: orc1 has been classified as Red List (Low Evidence).
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 v0.2080 LYST Zornitza Stark Classified gene: LYST as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.2080 LYST Zornitza Stark Gene: lyst has been classified as Amber List (Moderate Evidence).
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 Marked gene: LRP5 as ready
Intellectual disability syndromic and non-syndromic v0.2079 LRP5 Zornitza Stark Gene: lrp5 has been classified as Red List (Low Evidence).
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 v0.2078 LRP5 Zornitza Stark Classified gene: LRP5 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.2078 LRP5 Zornitza Stark Gene: lrp5 has been classified as Red List (Low Evidence).
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 v0.2077 LNPK Zornitza Stark Marked gene: LNPK as ready
Intellectual disability syndromic and non-syndromic v0.2077 LNPK Zornitza Stark Gene: lnpk has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.2077 LNPK Zornitza Stark Mode of inheritance for gene: LNPK was changed from Unknown to 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 v0.2075 LNPK Zornitza Stark Publications for gene: LNPK were set to
Intellectual disability syndromic and non-syndromic v0.2074 LNPK Zornitza Stark Classified gene: LNPK as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.2074 LNPK Zornitza Stark Gene: lnpk has been classified as Amber List (Moderate Evidence).
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 Marked gene: LMBRD1 as ready
Intellectual disability syndromic and non-syndromic v0.2073 LMBRD1 Zornitza Stark Gene: lmbrd1 has been classified as Green List (High Evidence).
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 v0.2072 LMBRD1 Zornitza Stark Mode of inheritance for gene: LMBRD1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
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 v0.2071 LIPT2 Zornitza Stark Marked gene: LIPT2 as ready
Intellectual disability syndromic and non-syndromic v0.2071 LIPT2 Zornitza Stark Gene: lipt2 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.2071 LIPT2 Zornitza Stark Classified gene: LIPT2 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.2071 LIPT2 Zornitza Stark Gene: lipt2 has been classified as Amber List (Moderate Evidence).
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 v0.2069 LAS1L Zornitza Stark Marked gene: LAS1L as ready
Intellectual disability syndromic and non-syndromic v0.2069 LAS1L Zornitza Stark Gene: las1l has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2069 LAS1L Zornitza Stark Phenotypes for gene: LAS1L were changed from to Wilson-Turner syndrome, MIM# 309585
Intellectual disability syndromic and non-syndromic v0.2068 LAS1L Zornitza Stark Publications for gene: LAS1L were set to
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 v0.2067 KIF4A Zornitza Stark Marked gene: KIF4A as ready
Intellectual disability syndromic and non-syndromic v0.2067 KIF4A Zornitza Stark Gene: kif4a has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.2067 KIF4A Zornitza Stark Phenotypes for gene: KIF4A were changed from to Mental retardation, X-linked 100, MIM# 300923
Intellectual disability syndromic and non-syndromic v0.2066 KIF4A Zornitza Stark Publications for gene: KIF4A were set to
Intellectual disability syndromic and non-syndromic v0.2066 KIF4A Zornitza Stark Mode of inheritance for gene: KIF4A was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Intellectual disability syndromic and non-syndromic v0.2065 KIF4A Zornitza Stark Classified gene: KIF4A as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.2065 KIF4A Zornitza Stark Gene: kif4a has been classified as Red List (Low Evidence).
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 v0.2064 KIF2A Zornitza Stark Classified gene: KIF2A as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.2064 KIF2A Zornitza Stark Gene: kif2a has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2064 KIF2A Zornitza Stark Marked gene: KIF2A as ready
Intellectual disability syndromic and non-syndromic v0.2064 KIF2A Zornitza Stark Gene: kif2a has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2064 KIF2A Zornitza Stark Classified gene: KIF2A as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.2064 KIF2A Zornitza Stark Gene: kif2a has been classified as Green List (High Evidence).
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 v0.2062 KCNT2 Zornitza Stark Marked gene: KCNT2 as ready
Intellectual disability syndromic and non-syndromic v0.2062 KCNT2 Zornitza Stark Gene: kcnt2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2062 KCNT2 Zornitza Stark Classified gene: KCNT2 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.2062 KCNT2 Zornitza Stark Gene: kcnt2 has been classified as Green List (High Evidence).
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 v0.2060 KCNK4 Zornitza Stark Marked gene: KCNK4 as ready
Intellectual disability syndromic and non-syndromic v0.2060 KCNK4 Zornitza Stark Gene: kcnk4 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2060 KCNK4 Zornitza Stark Classified gene: KCNK4 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.2060 KCNK4 Zornitza Stark Gene: kcnk4 has been classified as Green List (High Evidence).
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 v0.2058 KATNAL2 Zornitza Stark Phenotypes for gene: KATNAL2 were changed from Autism to Autism
Intellectual disability syndromic and non-syndromic v0.2057 KATNAL2 Zornitza Stark Phenotypes for gene: KATNAL2 were changed from Autism to Autism
Intellectual disability syndromic and non-syndromic v0.2056 KATNAL2 Zornitza Stark Marked gene: KATNAL2 as ready
Intellectual disability syndromic and non-syndromic v0.2056 KATNAL2 Zornitza Stark Gene: katnal2 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.2056 KATNAL2 Zornitza Stark Phenotypes for gene: KATNAL2 were changed from to Autism
Intellectual disability syndromic and non-syndromic v0.2057 KATNAL2 Zornitza Stark Publications for gene: KATNAL2 were set to 22495311; 21572417; 22495309; 22495306
Intellectual disability syndromic and non-syndromic v0.2056 KATNAL2 Zornitza Stark Publications for gene: KATNAL2 were set to
Intellectual disability syndromic and non-syndromic v0.2056 KATNAL2 Zornitza Stark Mode of inheritance for gene: KATNAL2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.2055 KATNAL2 Zornitza Stark Classified gene: KATNAL2 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.2055 KATNAL2 Zornitza Stark Gene: katnal2 has been classified as Red List (Low Evidence).
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 v0.2054 ITGA7 Zornitza Stark Marked gene: ITGA7 as ready
Intellectual disability syndromic and non-syndromic v0.2054 ITGA7 Zornitza Stark Gene: itga7 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.2054 ITGA7 Zornitza Stark Publications for gene: ITGA7 were set to
Intellectual disability syndromic and non-syndromic v0.2053 ITGA7 Zornitza Stark Phenotypes for gene: ITGA7 were changed from to Muscular dystrophy, congenital, due to ITGA7 deficiency, MIM# 613204
Intellectual disability syndromic and non-syndromic v0.2052 ITGA7 Zornitza Stark Mode of inheritance for gene: ITGA7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2051 ITGA7 Zornitza Stark Classified gene: ITGA7 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.2051 ITGA7 Zornitza Stark Gene: itga7 has been classified as Amber List (Moderate Evidence).
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 v0.2050 ISCA2 Zornitza Stark Marked gene: ISCA2 as ready
Intellectual disability syndromic and non-syndromic v0.2050 ISCA2 Zornitza Stark Gene: isca2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2050 ISCA2 Zornitza Stark Phenotypes for gene: ISCA2 were changed from to Multiple mitochondrial dysfunctions syndrome 4, MIM# 616370
Intellectual disability syndromic and non-syndromic v0.2049 ISCA2 Zornitza Stark Publications for gene: ISCA2 were set to
Intellectual disability syndromic and non-syndromic v0.2048 ISCA2 Zornitza Stark Mode of inheritance for gene: ISCA2 was changed from Unknown to 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 Marked gene: INTS8 as ready
Intellectual disability syndromic and non-syndromic v0.2047 INTS8 Zornitza Stark Gene: ints8 has been classified as Red List (Low Evidence).
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 v0.2046 INTS8 Zornitza Stark Publications for gene: INTS8 were set to
Intellectual disability syndromic and non-syndromic v0.2045 INTS8 Zornitza Stark Mode of inheritance for gene: INTS8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2044 INTS8 Zornitza Stark Classified gene: INTS8 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.2044 INTS8 Zornitza Stark Gene: ints8 has been classified as Red List (Low Evidence).
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 v0.2043 INSR Zornitza Stark Marked gene: INSR as ready
Intellectual disability syndromic and non-syndromic v0.2043 INSR Zornitza Stark Gene: insr has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.2043 INSR Zornitza Stark Phenotypes for gene: INSR were changed from to Leprechaunism, MIM# 246200; Rabson-Mendenhall syndrome, MIM# 262190
Intellectual disability syndromic and non-syndromic v0.2042 INSR Zornitza Stark Mode of inheritance for gene: INSR was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2041 INSR Zornitza Stark Classified gene: INSR as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.2041 INSR Zornitza Stark Gene: insr has been classified as Red List (Low Evidence).
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 v0.2040 TRAPPC9 Zornitza Stark Marked gene: TRAPPC9 as ready
Intellectual disability syndromic and non-syndromic v0.2040 TRAPPC9 Zornitza Stark Gene: trappc9 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2040 TRAPPC9 Zornitza Stark Phenotypes for gene: TRAPPC9 were changed from to Intellectual disability, autosomal recessive 13 (MIM# 613192)
Intellectual disability syndromic and non-syndromic v0.2039 TRAPPC9 Zornitza Stark Publications for gene: TRAPPC9 were set to
Intellectual disability syndromic and non-syndromic v0.2039 TRAPPC9 Zornitza Stark Mode of inheritance for gene: TRAPPC9 was changed from Unknown to 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 Marked gene: IGBP1 as ready
Intellectual disability syndromic and non-syndromic v0.2037 IGBP1 Zornitza Stark Gene: igbp1 has been classified as Red List (Low Evidence).
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 v0.2037 IGBP1 Zornitza Stark Publications for gene: IGBP1 were set to 14556245
Intellectual disability syndromic and non-syndromic v0.2037 IGBP1 Zornitza Stark Publications for gene: IGBP1 were set to
Intellectual disability syndromic and non-syndromic v0.2036 IGBP1 Zornitza Stark Mode of inheritance for gene: IGBP1 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Intellectual disability syndromic and non-syndromic v0.2036 IGBP1 Zornitza Stark Classified gene: IGBP1 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.2036 IGBP1 Zornitza Stark Gene: igbp1 has been classified as Red List (Low Evidence).
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 v0.2035 HTT Zornitza Stark Marked gene: HTT as ready
Intellectual disability syndromic and non-syndromic v0.2035 HTT Zornitza Stark Gene: htt has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.2035 HTT Zornitza Stark Classified gene: HTT as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.2035 HTT Zornitza Stark Gene: htt has been classified as Amber List (Moderate Evidence).
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 Marked gene: HIST1H4C as ready
Intellectual disability syndromic and non-syndromic v0.2032 HIST1H4C Zornitza Stark Gene: hist1h4c has been classified as Amber List (Moderate Evidence).
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 v0.2032 HIST1H4C Zornitza Stark Publications for gene: HIST1H4C were set to 28920961
Intellectual disability syndromic and non-syndromic v0.2031 HIST1H4C Zornitza Stark Publications for gene: HIST1H4C were set to
Intellectual disability syndromic and non-syndromic v0.2031 HIST1H4C Zornitza Stark Mode of inheritance for gene: HIST1H4C was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.2030 HIST1H4C Zornitza Stark Classified gene: HIST1H4C as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.2030 HIST1H4C Zornitza Stark Gene: hist1h4c has been classified as Amber List (Moderate Evidence).
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 v0.2029 HERC2 Zornitza Stark Marked gene: HERC2 as ready
Intellectual disability syndromic and non-syndromic v0.2029 HERC2 Zornitza Stark Gene: herc2 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.2029 HERC2 Zornitza Stark Phenotypes for gene: HERC2 were changed from Mental retardation, autosomal recessive 38, MIM# 615516 to Mental retardation, autosomal recessive 38, MIM# 615516
Intellectual disability syndromic and non-syndromic v0.2028 HERC2 Zornitza Stark Mode of inheritance for gene: HERC2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2027 HERC2 Zornitza Stark Phenotypes for gene: HERC2 were changed from to Mental retardation, autosomal recessive 38, MIM# 615516
Intellectual disability syndromic and non-syndromic v0.2027 HERC2 Zornitza Stark Publications for gene: HERC2 were set to
Intellectual disability syndromic and non-syndromic v0.2026 HERC2 Zornitza Stark Classified gene: HERC2 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.2026 HERC2 Zornitza Stark Gene: herc2 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.2025 HERC2 Zornitza Stark Classified gene: HERC2 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.2025 HERC2 Zornitza Stark Gene: herc2 has been classified as Amber List (Moderate Evidence).
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 v0.2024 HAX1 Zornitza Stark Phenotypes for gene: HAX1 were changed from Neutropenia, severe congenital 3, autosomal recessive, MIM# 610738 to Neutropenia, severe congenital 3, autosomal recessive, MIM# 610738
Intellectual disability syndromic and non-syndromic v0.2024 HAX1 Zornitza Stark Marked gene: HAX1 as ready
Intellectual disability syndromic and non-syndromic v0.2024 HAX1 Zornitza Stark Gene: hax1 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.2024 HAX1 Zornitza Stark Phenotypes for gene: HAX1 were changed from Neutropenia, severe congenital 3, autosomal recessive, MIM# 610738 to Neutropenia, severe congenital 3, autosomal recessive, MIM# 610738
Intellectual disability syndromic and non-syndromic v0.2023 HAX1 Zornitza Stark Phenotypes for gene: HAX1 were changed from to Neutropenia, severe congenital 3, autosomal recessive, MIM# 610738
Intellectual disability syndromic and non-syndromic v0.2023 HAX1 Zornitza Stark Mode of inheritance for gene: HAX1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2022 HAX1 Zornitza Stark Classified gene: HAX1 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.2022 HAX1 Zornitza Stark Gene: hax1 has been classified as Amber List (Moderate Evidence).
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 v0.2021 HARS2 Zornitza Stark Phenotypes for gene: HARS2 were changed from Perrault syndrome 2, MIM# 614926 to Perrault syndrome 2, MIM# 614926
Intellectual disability syndromic and non-syndromic v0.2021 HARS2 Zornitza Stark Marked gene: HARS2 as ready
Intellectual disability syndromic and non-syndromic v0.2021 HARS2 Zornitza Stark Gene: hars2 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.2021 HARS2 Zornitza Stark Phenotypes for gene: HARS2 were changed from Perrault syndrome 2, MIM# 614926 to Perrault syndrome 2, MIM# 614926
Intellectual disability syndromic and non-syndromic v0.2020 HARS2 Zornitza Stark Phenotypes for gene: HARS2 were changed from to Perrault syndrome 2, MIM# 614926
Intellectual disability syndromic and non-syndromic v0.2020 HARS2 Zornitza Stark Publications for gene: HARS2 were set to
Intellectual disability syndromic and non-syndromic v0.2019 HARS2 Zornitza Stark Mode of inheritance for gene: HARS2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2018 HARS2 Zornitza Stark Classified gene: HARS2 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.2018 HARS2 Zornitza Stark Gene: hars2 has been classified as Red List (Low Evidence).
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 v0.2017 GTF3C3 Zornitza Stark Marked gene: GTF3C3 as ready
Intellectual disability syndromic and non-syndromic v0.2017 GTF3C3 Zornitza Stark Gene: gtf3c3 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2017 GTF3C3 Zornitza Stark Phenotypes for gene: GTF3C3 were changed from Global developmental delay; Intellectual disability; Seizures to Global developmental delay; Intellectual disability; Seizures
Intellectual disability syndromic and non-syndromic v0.2016 GTF3C3 Zornitza Stark Phenotypes for gene: GTF3C3 were changed from to Global developmental delay; Intellectual disability; Seizures
Intellectual disability syndromic and non-syndromic v0.2015 GTF3C3 Zornitza Stark Publications for gene: GTF3C3 were set to
Intellectual disability syndromic and non-syndromic v0.2014 GTF3C3 Zornitza Stark Mode of inheritance for gene: GTF3C3 was changed from Unknown to 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 Marked gene: KIF11 as ready
Intellectual disability syndromic and non-syndromic v0.2013 KIF11 Zornitza Stark Gene: kif11 has been classified as Green List (High Evidence).
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 v0.2012 KIF11 Zornitza Stark Publications for gene: KIF11 were set to
Intellectual disability syndromic and non-syndromic v0.2012 KIF11 Zornitza Stark Mode of inheritance for gene: KIF11 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.2011 GSS Zornitza Stark Marked gene: GSS as ready
Intellectual disability syndromic and non-syndromic v0.2011 GSS Zornitza Stark Gene: gss has been classified as Green List (High Evidence).
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 v0.2009 GSS Zornitza Stark Mode of inheritance for gene: GSS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
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 v0.2008 GRIN2D Zornitza Stark Marked gene: GRIN2D as ready
Intellectual disability syndromic and non-syndromic v0.2008 GRIN2D Zornitza Stark Gene: grin2d has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2008 GRIN2D Zornitza Stark Classified gene: GRIN2D as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.2008 GRIN2D Zornitza Stark Gene: grin2d has been classified as Green List (High Evidence).
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 v0.2006 GRIA1 Zornitza Stark Marked gene: GRIA1 as ready
Intellectual disability syndromic and non-syndromic v0.2006 GRIA1 Zornitza Stark Gene: gria1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2006 GRIA1 Zornitza Stark Classified gene: GRIA1 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.2006 GRIA1 Zornitza Stark Gene: gria1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2005 GRIA1 Zornitza Stark gene: GRIA1 was added
gene: GRIA1 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list
Mode of inheritance for gene: GRIA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: GRIA1 were set to 28628100; 23033978; 26350204; 24896178
Phenotypes for gene: GRIA1 were set to Intellectual disability; autism
Review for gene: GRIA1 was set to GREEN
Added comment: Multiple affected individuals reported but in large ID cohorts reporting multiple candidate genes. Recurrent (p.A636T) variant.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.2004 GPHN Zornitza Stark Publications for gene: GPHN were set to
Intellectual disability syndromic and non-syndromic v0.2003 GPHN Zornitza Stark Classified gene: GPHN as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.2003 GPHN Zornitza Stark Gene: gphn has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.2002 GPHN Zornitza Stark Tag SV/CNV tag was added to gene: GPHN.
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 v0.2002 GORAB Zornitza Stark Classified gene: GORAB as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.2002 GORAB Zornitza Stark Gene: gorab has been classified as Amber List (Moderate Evidence).
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 GNAQ Zornitza Stark Tag somatic tag was added to gene: GNAQ.
Intellectual disability syndromic and non-syndromic v0.2001 MARS2 Zornitza Stark Marked gene: MARS2 as ready
Intellectual disability syndromic and non-syndromic v0.2001 MARS2 Zornitza Stark Gene: mars2 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.2001 HDAC4 Zornitza Stark Marked gene: HDAC4 as ready
Intellectual disability syndromic and non-syndromic v0.2001 HDAC4 Zornitza Stark Gene: hdac4 has been classified as Amber List (Moderate Evidence).
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 v0.1999 HDAC4 Zornitza Stark Publications for gene: HDAC4 were set to
Intellectual disability syndromic and non-syndromic v0.1999 HDAC4 Zornitza Stark Mode of inheritance for gene: HDAC4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1998 HDAC4 Zornitza Stark Classified gene: HDAC4 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.1998 HDAC4 Zornitza Stark Gene: hdac4 has been classified as Amber List (Moderate Evidence).
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 v0.1997 UBR4 Zornitza Stark Marked gene: UBR4 as ready
Intellectual disability syndromic and non-syndromic v0.1997 UBR4 Zornitza Stark Gene: ubr4 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1997 UBR4 Zornitza Stark Phenotypes for gene: UBR4 were changed from Episodic ataxia to Episodic ataxia
Intellectual disability syndromic and non-syndromic v0.1996 UBR4 Zornitza Stark Phenotypes for gene: UBR4 were changed from to Episodic ataxia
Intellectual disability syndromic and non-syndromic v0.1995 UBR4 Zornitza Stark Publications for gene: UBR4 were set to
Intellectual disability syndromic and non-syndromic v0.1994 UBR4 Zornitza Stark Mode of inheritance for gene: UBR4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1993 UBR4 Zornitza Stark Classified gene: UBR4 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.1993 UBR4 Zornitza Stark Gene: ubr4 has been classified as Red List (Low Evidence).
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 v0.1992 GMNN Zornitza Stark Marked gene: GMNN as ready
Intellectual disability syndromic and non-syndromic v0.1992 GMNN Zornitza Stark Gene: gmnn has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1992 GMNN Zornitza Stark Classified gene: GMNN as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.1992 GMNN Zornitza Stark Gene: gmnn has been classified as Amber List (Moderate Evidence).
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 v0.1990 TRAPPC4 Zornitza Stark Marked gene: TRAPPC4 as ready
Intellectual disability syndromic and non-syndromic v0.1990 TRAPPC4 Zornitza Stark Gene: trappc4 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1990 TRAPPC4 Zornitza Stark Classified gene: TRAPPC4 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1990 TRAPPC4 Zornitza Stark Gene: trappc4 has been classified as Green List (High Evidence).
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 v0.1988 SNX27 Zornitza Stark Marked gene: SNX27 as ready
Intellectual disability syndromic and non-syndromic v0.1988 SNX27 Zornitza Stark Gene: snx27 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1988 SNX27 Zornitza Stark Classified gene: SNX27 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1988 SNX27 Zornitza Stark Gene: snx27 has been classified as Green List (High Evidence).
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 v0.1986 PMPCB Zornitza Stark Marked gene: PMPCB as ready
Intellectual disability syndromic and non-syndromic v0.1986 PMPCB Zornitza Stark Gene: pmpcb has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1986 PMPCB Zornitza Stark Classified gene: PMPCB as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1986 PMPCB Zornitza Stark Gene: pmpcb has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1985 PMPCB Zornitza Stark gene: PMPCB was added
gene: PMPCB was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review
Mode of inheritance for gene: PMPCB was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PMPCB were set to 29576218
Phenotypes for gene: PMPCB were set to Multiple mitochondrial dysfunctions syndrome 6, MIM# 617954
Review for gene: PMPCB was set to GREEN
Added comment: Five individuals from four families; seizures in 4/5 individuals reported, onset in infancy.
Sources: Expert Review
Intellectual disability syndromic and non-syndromic v0.1984 NSF Zornitza Stark Marked gene: NSF as ready
Intellectual disability syndromic and non-syndromic v0.1984 NSF Zornitza Stark Gene: nsf has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1984 NSF Zornitza Stark Classified gene: NSF as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.1984 NSF Zornitza Stark Gene: nsf has been classified as Amber List (Moderate Evidence).
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 v0.1982 KAT8 Zornitza Stark Marked gene: KAT8 as ready
Intellectual disability syndromic and non-syndromic v0.1982 KAT8 Zornitza Stark Gene: kat8 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1982 KAT8 Zornitza Stark Classified gene: KAT8 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1982 KAT8 Zornitza Stark Gene: kat8 has been classified as Green List (High Evidence).
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 v0.1980 GLRA1 Zornitza Stark Marked gene: GLRA1 as ready
Intellectual disability syndromic and non-syndromic v0.1980 GLRA1 Zornitza Stark Gene: glra1 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1980 GLRA1 Zornitza Stark Phenotypes for gene: GLRA1 were changed from Hyperekplexia 1, MIM# 149400 to Hyperekplexia 1, MIM# 149400
Intellectual disability syndromic and non-syndromic v0.1979 GLRA1 Zornitza Stark Phenotypes for gene: GLRA1 were changed from to Hyperekplexia 1, MIM# 149400
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 v0.1978 GLRA1 Zornitza Stark Classified gene: GLRA1 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.1978 GLRA1 Zornitza Stark Gene: glra1 has been classified as Red List (Low Evidence).
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 Marked gene: GEMIN4 as ready
Intellectual disability syndromic and non-syndromic v0.1977 GEMIN4 Zornitza Stark Gene: gemin4 has been classified as Amber List (Moderate Evidence).
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 v0.1977 GEMIN4 Zornitza Stark Publications for gene: GEMIN4 were set to
Intellectual disability syndromic and non-syndromic v0.1977 GEMIN4 Zornitza Stark Mode of inheritance for gene: GEMIN4 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1976 GEMIN4 Zornitza Stark Mode of inheritance for gene: GEMIN4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1976 GEMIN4 Zornitza Stark Classified gene: GEMIN4 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.1976 GEMIN4 Zornitza Stark Gene: gemin4 has been classified as Amber List (Moderate Evidence).
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 v0.1975 GBA Zornitza Stark Marked gene: GBA as ready
Intellectual disability syndromic and non-syndromic v0.1975 GBA Zornitza Stark Gene: gba has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1975 GBA Zornitza Stark Phenotypes for gene: GBA were changed from to Gaucher disease, type II 230900
Intellectual disability syndromic and non-syndromic v0.1974 GBA Zornitza Stark Mode of inheritance for gene: GBA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1973 GBA Zornitza Stark Classified gene: GBA as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.1973 GBA Zornitza Stark Gene: gba has been classified as Amber List (Moderate Evidence).
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 Marked gene: GAN as ready
Intellectual disability syndromic and non-syndromic v0.1972 GAN Zornitza Stark Gene: gan has been classified as Red List (Low Evidence).
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 v0.1971 GAN Zornitza Stark Mode of inheritance for gene: GAN was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1970 GAN Zornitza Stark Classified gene: GAN as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.1970 GAN Zornitza Stark Gene: gan has been classified as Red List (Low Evidence).
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 v0.1969 GABRA2 Zornitza Stark Marked gene: GABRA2 as ready
Intellectual disability syndromic and non-syndromic v0.1969 GABRA2 Zornitza Stark Gene: gabra2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1969 GABRA2 Zornitza Stark Classified gene: GABRA2 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1969 GABRA2 Zornitza Stark Gene: gabra2 has been classified as Green List (High Evidence).
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 v0.1967 GABBR2 Zornitza Stark Marked gene: GABBR2 as ready
Intellectual disability syndromic and non-syndromic v0.1967 GABBR2 Zornitza Stark Gene: gabbr2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1967 GABBR2 Zornitza Stark Classified gene: GABBR2 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1967 GABBR2 Zornitza Stark Gene: gabbr2 has been classified as Green List (High Evidence).
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 v0.1964 HNRNPU Zornitza Stark Publications for gene: HNRNPU were set to
Intellectual disability syndromic and non-syndromic v0.1963 HNRNPU Zornitza Stark Mode of inheritance for gene: HNRNPU was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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 v0.1962 G6PC3 Zornitza Stark Marked gene: G6PC3 as ready
Intellectual disability syndromic and non-syndromic v0.1962 G6PC3 Zornitza Stark Gene: g6pc3 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1962 G6PC3 Zornitza Stark Phenotypes for gene: G6PC3 were changed from to Neutropenia, severe congenital 4, autosomal recessive, MIM# 612541
Intellectual disability syndromic and non-syndromic v0.1961 G6PC3 Zornitza Stark Publications for gene: G6PC3 were set to
Intellectual disability syndromic and non-syndromic v0.1960 G6PC3 Zornitza Stark Mode of inheritance for gene: G6PC3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1959 G6PC3 Zornitza Stark Classified gene: G6PC3 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.1959 G6PC3 Zornitza Stark Gene: g6pc3 has been classified as Red List (Low Evidence).
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 v0.1958 EHMT1 Zornitza Stark Marked gene: EHMT1 as ready
Intellectual disability syndromic and non-syndromic v0.1958 EHMT1 Zornitza Stark Gene: ehmt1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1958 EHMT1 Zornitza Stark Phenotypes for gene: EHMT1 were changed from Kleefstra syndrome 1 (MIM#610253) to Kleefstra syndrome 1 (MIM#610253)
Intellectual disability syndromic and non-syndromic v0.1957 EHMT1 Zornitza Stark Phenotypes for gene: EHMT1 were changed from to Kleefstra syndrome 1 (MIM#610253)
Intellectual disability syndromic and non-syndromic v0.1956 EHMT1 Zornitza Stark Mode of inheritance for gene: EHMT1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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 Marked gene: FTO as ready
Intellectual disability syndromic and non-syndromic v0.1955 FTO Zornitza Stark Gene: fto has been classified as Amber List (Moderate Evidence).
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 v0.1954 FTO Zornitza Stark Mode of inheritance for gene: FTO was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
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 v0.1952 FTO Zornitza Stark Publications for gene: FTO were set to
Intellectual disability syndromic and non-syndromic v0.1951 FTO Zornitza Stark Classified gene: FTO as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.1951 FTO Zornitza Stark Gene: fto has been classified as Amber List (Moderate Evidence).
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 v0.1950 FRRS1L Zornitza Stark Marked gene: FRRS1L as ready
Intellectual disability syndromic and non-syndromic v0.1950 FRRS1L Zornitza Stark Gene: frrs1l has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1950 FRRS1L Zornitza Stark Classified gene: FRRS1L as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1950 FRRS1L Zornitza Stark Gene: frrs1l has been classified as Green List (High Evidence).
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 Marked gene: FIBP as ready
Intellectual disability syndromic and non-syndromic v0.1948 FIBP Zornitza Stark Gene: fibp has been classified as Amber List (Moderate Evidence).
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 v0.1947 FIBP Zornitza Stark Publications for gene: FIBP were set to 26660953; 27183861
Intellectual disability syndromic and non-syndromic v0.1947 FIBP Zornitza Stark Mode of inheritance for gene: FIBP was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1947 FIBP Zornitza Stark Publications for gene: FIBP were set to
Intellectual disability syndromic and non-syndromic v0.1946 FIBP Zornitza Stark Mode of inheritance for gene: FIBP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1946 FIBP Zornitza Stark Classified gene: FIBP as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.1946 FIBP Zornitza Stark Gene: fibp has been classified as Amber List (Moderate Evidence).
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 v0.1945 FGFR1 Zornitza Stark Marked gene: FGFR1 as ready
Intellectual disability syndromic and non-syndromic v0.1945 FGFR1 Zornitza Stark Gene: fgfr1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1945 FGFR1 Zornitza Stark Phenotypes for gene: FGFR1 were changed from to Hartsfield syndrome, MIM# 615465
Intellectual disability syndromic and non-syndromic v0.1944 FGFR1 Zornitza Stark Publications for gene: FGFR1 were set to
Intellectual disability syndromic and non-syndromic v0.1943 FGFR1 Zornitza Stark Mode of inheritance for gene: FGFR1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1942 FGFR3 Zornitza Stark Marked gene: FGFR3 as ready
Intellectual disability syndromic and non-syndromic v0.1942 FGFR3 Zornitza Stark Gene: fgfr3 has been classified as Green List (High Evidence).
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 v0.1940 TKFC Zornitza Stark Marked gene: TKFC as ready
Intellectual disability syndromic and non-syndromic v0.1940 TKFC Zornitza Stark Gene: tkfc has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1940 TKFC Zornitza Stark Classified gene: TKFC as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.1940 TKFC Zornitza Stark Gene: tkfc has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1939 TKFC Zornitza Stark gene: TKFC was added
gene: TKFC was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: TKFC was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TKFC were set to 32004446
Phenotypes for gene: TKFC were set to Developmental delay; cataracts; liver dysfunction
Review for gene: TKFC was set to AMBER
Added comment: Two unrelated individuals reported.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1938 RALGAPA1 Zornitza Stark Marked gene: RALGAPA1 as ready
Intellectual disability syndromic and non-syndromic v0.1938 RALGAPA1 Zornitza Stark Gene: ralgapa1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1938 RALGAPA1 Zornitza Stark Classified gene: RALGAPA1 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1938 RALGAPA1 Zornitza Stark Gene: ralgapa1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1937 RALGAPA1 Zornitza Stark gene: RALGAPA1 was added
gene: RALGAPA1 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: RALGAPA1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RALGAPA1 were set to 32004447
Phenotypes for gene: RALGAPA1 were set to Intellectual disability; hypotonia; infantile spasms.
Review for gene: RALGAPA1 was set to GREEN
Added comment: Four unrelated individuals reported.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1936 FDXR Zornitza Stark Marked gene: FDXR as ready
Intellectual disability syndromic and non-syndromic v0.1936 FDXR Zornitza Stark Gene: fdxr has been classified as Red List (Low Evidence).
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 v0.1935 FDXR Zornitza Stark Mode of inheritance for gene: FDXR was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1934 FDXR Zornitza Stark Classified gene: FDXR as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.1934 FDXR Zornitza Stark Gene: fdxr has been classified as Red List (Low Evidence).
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 v0.1933 FANCG Zornitza Stark Marked gene: FANCG as ready
Intellectual disability syndromic and non-syndromic v0.1933 FANCG Zornitza Stark Gene: fancg has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1933 FANCG Zornitza Stark Phenotypes for gene: FANCG were changed from to Fanconi anemia, complementation group G, MIM# 614082
Intellectual disability syndromic and non-syndromic v0.1932 FANCB Zornitza Stark Marked gene: FANCB as ready
Intellectual disability syndromic and non-syndromic v0.1932 FANCB Zornitza Stark Gene: fancb has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1932 FANCG Zornitza Stark Mode of inheritance for gene: FANCG was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1931 FANCB Zornitza Stark Phenotypes for gene: FANCB were changed from to Fanconi anemia, complementation group B, MIM# 300514
Intellectual disability syndromic and non-syndromic v0.1931 FANCG Zornitza Stark Classified gene: FANCG as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.1931 FANCG Zornitza Stark Gene: fancg has been classified as Amber List (Moderate Evidence).
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 v0.1930 FANCB Zornitza Stark Mode of inheritance for gene: FANCB was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1929 FANCD2 Zornitza Stark Classified gene: FANCD2 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.1929 FANCD2 Zornitza Stark Gene: fancd2 has been classified as Amber List (Moderate Evidence).
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 v0.1928 FANCB Zornitza Stark Classified gene: FANCB as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.1928 FANCB Zornitza Stark Gene: fancb has been classified as Amber List (Moderate Evidence).
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 v0.1927 ERCC4 Zornitza Stark changed review comment from: Intellect normal in xeroderma pigmentosum; mild learning difficulties described in XFE progressed syndrome.; to: Intellect normal in xeroderma pigmentosum; mild learning difficulties described in XFE progeroid syndrome.
Intellectual disability syndromic and non-syndromic v0.1927 EPB41L1 Zornitza Stark Marked gene: EPB41L1 as ready
Intellectual disability syndromic and non-syndromic v0.1927 EPB41L1 Zornitza Stark Gene: epb41l1 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1927 EPB41L1 Zornitza Stark Phenotypes for gene: EPB41L1 were changed from to Mental retardation, autosomal dominant 11, MIM# 614257
Intellectual disability syndromic and non-syndromic v0.1926 EPB41L1 Zornitza Stark Publications for gene: EPB41L1 were set to
Intellectual disability syndromic and non-syndromic v0.1925 EPB41L1 Zornitza Stark Mode of inheritance for gene: EPB41L1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1924 EPB41L1 Zornitza Stark Classified gene: EPB41L1 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.1924 EPB41L1 Zornitza Stark Gene: epb41l1 has been classified as Red List (Low Evidence).
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 v0.1923 EMG1 Zornitza Stark Marked gene: EMG1 as ready
Intellectual disability syndromic and non-syndromic v0.1923 EMG1 Zornitza Stark Gene: emg1 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1923 EMG1 Zornitza Stark Classified gene: EMG1 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.1923 EMG1 Zornitza Stark Gene: emg1 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1922 EMG1 Zornitza Stark gene: EMG1 was added
gene: EMG1 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list
Mode of inheritance for gene: EMG1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EMG1 were set to 19463982
Phenotypes for gene: EMG1 were set to Bowen-Conradi syndrome, MIM#211180
Review for gene: EMG1 was set to AMBER
Added comment: Founder mutation in Hutterite, D86G.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.1921 EMC1 Zornitza Stark Marked gene: EMC1 as ready
Intellectual disability syndromic and non-syndromic v0.1921 EMC1 Zornitza Stark Gene: emc1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1921 EMC1 Zornitza Stark Classified gene: EMC1 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1921 EMC1 Zornitza Stark Gene: emc1 has been classified as Green List (High Evidence).
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 v0.1919 EFNB1 Zornitza Stark Marked gene: EFNB1 as ready
Intellectual disability syndromic and non-syndromic v0.1919 EFNB1 Zornitza Stark Gene: efnb1 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1919 EFNB1 Zornitza Stark Phenotypes for gene: EFNB1 were changed from to Craniofrontonasal dysplasia, MIM# 304110
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 v0.1917 EFNB1 Zornitza Stark Classified gene: EFNB1 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.1917 EFNB1 Zornitza Stark Gene: efnb1 has been classified as Red List (Low Evidence).
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 v0.1916 ATAD3A Zornitza Stark Marked gene: ATAD3A as ready
Intellectual disability syndromic and non-syndromic v0.1916 ATAD3A Zornitza Stark Gene: atad3a has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1916 ATAD3A Zornitza Stark Phenotypes for gene: ATAD3A were changed from to Harel-Yoon syndrome, MIM# 617183
Intellectual disability syndromic and non-syndromic v0.1915 ATAD3A Zornitza Stark Publications for gene: ATAD3A were set to
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 Tag SV/CNV tag was added to gene: ATAD3A.
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 v0.1913 DPM3 Zornitza Stark Marked gene: DPM3 as ready
Intellectual disability syndromic and non-syndromic v0.1913 DPM3 Zornitza Stark Gene: dpm3 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1913 DPM3 Zornitza Stark Mode of inheritance for gene: DPM3 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1912 DPM3 Zornitza Stark Mode of inheritance for gene: DPM3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1911 DPM3 Zornitza Stark Publications for gene: DPM3 were set to
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 v0.1909 DPM3 Zornitza Stark Classified gene: DPM3 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.1909 DPM3 Zornitza Stark Gene: dpm3 has been classified as Red List (Low Evidence).
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 v0.1908 DPM2 Zornitza Stark Marked gene: DPM2 as ready
Intellectual disability syndromic and non-syndromic v0.1908 DPM2 Zornitza Stark Gene: dpm2 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1908 DPM2 Zornitza Stark Phenotypes for gene: DPM2 were changed from to Congenital disorder of glycosylation, type Iu, MIM#615042
Intellectual disability syndromic and non-syndromic v0.1907 DPM2 Zornitza Stark Publications for gene: DPM2 were set to
Intellectual disability syndromic and non-syndromic v0.1906 DPM2 Zornitza Stark Mode of inheritance for gene: DPM2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1905 DPM2 Zornitza Stark Classified gene: DPM2 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.1905 DPM2 Zornitza Stark Gene: dpm2 has been classified as Amber List (Moderate Evidence).
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 Marked gene: DNAJC3 as ready
Intellectual disability syndromic and non-syndromic v0.1904 DNAJC3 Zornitza Stark Gene: dnajc3 has been classified as Red List (Low Evidence).
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 v0.1903 DNAJC3 Zornitza Stark Publications for gene: DNAJC3 were set to
Intellectual disability syndromic and non-syndromic v0.1902 DNAJC3 Zornitza Stark Mode of inheritance for gene: DNAJC3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1901 DNAJC3 Zornitza Stark Classified gene: DNAJC3 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.1901 DNAJC3 Zornitza Stark Gene: dnajc3 has been classified as Red List (Low Evidence).
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 v0.1900 DMPK Zornitza Stark Tag STR tag was added to gene: DMPK.
Intellectual disability syndromic and non-syndromic v0.1900 DLG4 Zornitza Stark Marked gene: DLG4 as ready
Intellectual disability syndromic and non-syndromic v0.1900 DLG4 Zornitza Stark Gene: dlg4 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1900 DLG4 Zornitza Stark Phenotypes for gene: DLG4 were changed from to Intellectual disability; Marfanoid habitus
Intellectual disability syndromic and non-syndromic v0.1899 DLG4 Zornitza Stark Publications for gene: DLG4 were set to
Intellectual disability syndromic and non-syndromic v0.1898 DLG4 Zornitza Stark Mode of inheritance for gene: DLG4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1897 DLG4 Zornitza Stark Classified gene: DLG4 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1897 DLG4 Zornitza Stark Gene: dlg4 has been classified as Green List (High Evidence).
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 v0.1896 DLAT Zornitza Stark Classified gene: DLAT as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.1896 DLAT Zornitza Stark Gene: dlat has been classified as Amber List (Moderate Evidence).
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 v0.1895 DIP2B Zornitza Stark Marked gene: DIP2B as ready
Intellectual disability syndromic and non-syndromic v0.1895 DIP2B Zornitza Stark Gene: dip2b has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1895 DIP2B Zornitza Stark Phenotypes for gene: DIP2B were changed from to Mental retardation, FRA12A type, MIM# 136630
Intellectual disability syndromic and non-syndromic v0.1894 DIP2B Zornitza Stark Publications for gene: DIP2B were set to
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 v0.1892 DIP2B Zornitza Stark Mode of inheritance for gene: DIP2B was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1891 DIP2B Zornitza Stark Mode of inheritance for gene: DIP2B was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1890 DIP2B Zornitza Stark Classified gene: DIP2B as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.1890 DIP2B Zornitza Stark Gene: dip2b has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1889 DIP2B Zornitza Stark Tag 5'UTR tag was added to gene: DIP2B.
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 v0.1889 DENND5A Zornitza Stark Marked gene: DENND5A as ready
Intellectual disability syndromic and non-syndromic v0.1889 DENND5A Zornitza Stark Gene: dennd5a has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1889 DENND5A Zornitza Stark Classified gene: DENND5A as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1889 DENND5A Zornitza Stark Gene: dennd5a has been classified as Green List (High Evidence).
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 v0.1887 DCPS Zornitza Stark Marked gene: DCPS as ready
Intellectual disability syndromic and non-syndromic v0.1887 DCPS Zornitza Stark Gene: dcps has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1887 DCPS Zornitza Stark Classified gene: DCPS as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1887 DCPS Zornitza Stark Gene: dcps has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1886 DCPS Zornitza Stark gene: DCPS was added
gene: DCPS was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list
Mode of inheritance for gene: DCPS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DCPS were set to 25701870; 30289615; 25712129
Phenotypes for gene: DCPS were set to Al-Raqad syndrome, MIM#616459
Review for gene: DCPS was set to GREEN
gene: DCPS was marked as current diagnostic
Added comment: 7 individuals from 3 families reported.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.1885 CWF19L1 Zornitza Stark Marked gene: CWF19L1 as ready
Intellectual disability syndromic and non-syndromic v0.1885 CWF19L1 Zornitza Stark Gene: cwf19l1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1885 CWF19L1 Zornitza Stark Classified gene: CWF19L1 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1885 CWF19L1 Zornitza Stark Gene: cwf19l1 has been classified as Green List (High Evidence).
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 v0.1883 CUX1 Zornitza Stark Marked gene: CUX1 as ready
Intellectual disability syndromic and non-syndromic v0.1883 CUX1 Zornitza Stark Gene: cux1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1883 CUX1 Zornitza Stark Classified gene: CUX1 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1883 CUX1 Zornitza Stark Gene: cux1 has been classified as Green List (High Evidence).
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 v0.1881 CRBN Zornitza Stark Marked gene: CRBN as ready
Intellectual disability syndromic and non-syndromic v0.1881 CRBN Zornitza Stark Gene: crbn has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1881 CRBN Zornitza Stark Phenotypes for gene: CRBN were changed from to Mental retardation, autosomal recessive 2, MIM# 607417
Intellectual disability syndromic and non-syndromic v0.1880 CRBN Zornitza Stark Publications for gene: CRBN were set to
Intellectual disability syndromic and non-syndromic v0.1879 CRBN Zornitza Stark Classified gene: CRBN as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.1879 CRBN Zornitza Stark Gene: crbn has been classified as Amber List (Moderate Evidence).
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 v0.1878 COQ9 Zornitza Stark Classified gene: COQ9 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.1878 COQ9 Zornitza Stark Gene: coq9 has been classified as Amber List (Moderate Evidence).
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 v0.1877 COQ2 Zornitza Stark Classified gene: COQ2 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.1877 COQ2 Zornitza Stark Gene: coq2 has been classified as Amber List (Moderate Evidence).
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 v0.1876 COL1A2 Zornitza Stark Marked gene: COL1A2 as ready
Intellectual disability syndromic and non-syndromic v0.1876 COL1A2 Zornitza Stark Gene: col1a2 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1876 COLEC10 Zornitza Stark Marked gene: COLEC10 as ready
Intellectual disability syndromic and non-syndromic v0.1876 COLEC10 Zornitza Stark Gene: colec10 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1876 COLEC10 Zornitza Stark Mode of inheritance for gene: COLEC10 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1875 COLEC10 Zornitza Stark Phenotypes for gene: COLEC10 were changed from to 3MC syndrome 3, MIM# 248340
Intellectual disability syndromic and non-syndromic v0.1874 COLEC10 Zornitza Stark Publications for gene: COLEC10 were set to
Intellectual disability syndromic and non-syndromic v0.1873 COLEC10 Zornitza Stark Classified gene: COLEC10 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.1873 COLEC10 Zornitza Stark Gene: colec10 has been classified as Red List (Low Evidence).
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 v0.1870 COL1A2 Zornitza Stark Classified gene: COL1A2 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.1870 COL1A2 Zornitza Stark Gene: col1a2 has been classified as Red List (Low Evidence).
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 v0.1869 COA3 Zornitza Stark Phenotypes for gene: COA3 were changed from Mitochondrial complex IV deficiency to Mitochondrial complex IV deficiency
Intellectual disability syndromic and non-syndromic v0.1869 COA3 Zornitza Stark Marked gene: COA3 as ready
Intellectual disability syndromic and non-syndromic v0.1869 COA3 Zornitza Stark Gene: coa3 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1869 COA3 Zornitza Stark Publications for gene: COA3 were set to 25604084
Intellectual disability syndromic and non-syndromic v0.1868 COA3 Zornitza Stark Mode of inheritance for gene: COA3 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1868 COA3 Zornitza Stark Phenotypes for gene: COA3 were changed from to Mitochondrial complex IV deficiency
Intellectual disability syndromic and non-syndromic v0.1868 COA3 Zornitza Stark Publications for gene: COA3 were set to
Intellectual disability syndromic and non-syndromic v0.1868 CNTN3 Zornitza Stark Marked gene: CNTN3 as ready
Intellectual disability syndromic and non-syndromic v0.1868 CNTN3 Zornitza Stark Gene: cntn3 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1868 COA3 Zornitza Stark Mode of inheritance for gene: COA3 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1867 COA3 Zornitza Stark Mode of inheritance for gene: COA3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1867 CNTN3 Zornitza Stark Publications for gene: CNTN3 were set to
Intellectual disability syndromic and non-syndromic v0.1867 COA3 Zornitza Stark Classified gene: COA3 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.1867 COA3 Zornitza Stark Gene: coa3 has been classified as Red List (Low Evidence).
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 v0.1866 CNTN3 Zornitza Stark Mode of inheritance for gene: CNTN3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1865 CNTN3 Zornitza Stark Classified gene: CNTN3 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.1865 CNTN3 Zornitza Stark Gene: cntn3 has been classified as Red List (Low Evidence).
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 v0.1864 CLPP Zornitza Stark Marked gene: CLPP as ready
Intellectual disability syndromic and non-syndromic v0.1864 CLPP Zornitza Stark Gene: clpp has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1864 CLPP Zornitza Stark Phenotypes for gene: CLPP were changed from to Perrault syndrome 3, MIM# 614129
Intellectual disability syndromic and non-syndromic v0.1863 CLPP Zornitza Stark Publications for gene: CLPP were set to
Intellectual disability syndromic and non-syndromic v0.1862 CLPP Zornitza Stark Mode of inheritance for gene: CLPP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1861 CLPP Zornitza Stark Classified gene: CLPP as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.1861 CLPP Zornitza Stark Gene: clpp has been classified as Red List (Low Evidence).
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 v0.1860 CHRNA4 Zornitza Stark Marked gene: CHRNA4 as ready
Intellectual disability syndromic and non-syndromic v0.1860 CHRNA4 Zornitza Stark Gene: chrna4 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1860 CHRNA4 Zornitza Stark Publications for gene: CHRNA4 were set to
Intellectual disability syndromic and non-syndromic v0.1859 CHRNA4 Zornitza Stark Phenotypes for gene: CHRNA4 were changed from to Epilepsy, nocturnal frontal lobe, 1, MIM# 600513
Intellectual disability syndromic and non-syndromic v0.1858 CHRNA4 Zornitza Stark Mode of inheritance for gene: CHRNA4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1857 CHRNA4 Zornitza Stark Classified gene: CHRNA4 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.1857 CHRNA4 Zornitza Stark Gene: chrna4 has been classified as Red List (Low Evidence).
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 v0.1856 CEP104 Zornitza Stark Marked gene: CEP104 as ready
Intellectual disability syndromic and non-syndromic v0.1856 CEP104 Zornitza Stark Gene: cep104 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1856 CEP104 Zornitza Stark Classified gene: CEP104 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1856 CEP104 Zornitza Stark Gene: cep104 has been classified as Green List (High Evidence).
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 v0.1854 CDKN1C Zornitza Stark Marked gene: CDKN1C as ready
Intellectual disability syndromic and non-syndromic v0.1854 CDKN1C Zornitza Stark Gene: cdkn1c has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1854 CDKN1C Zornitza Stark Phenotypes for gene: CDKN1C were changed from to IMAGE syndrome, MIM# 614732
Intellectual disability syndromic and non-syndromic v0.1853 CDKN1C Zornitza Stark Mode of inheritance for gene: CDKN1C was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1852 CDKN1C Zornitza Stark Classified gene: CDKN1C as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.1852 CDKN1C Zornitza Stark Gene: cdkn1c has been classified as Amber List (Moderate Evidence).
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 v0.1851 CDK5R1 Zornitza Stark Marked gene: CDK5R1 as ready
Intellectual disability syndromic and non-syndromic v0.1851 CDK5R1 Zornitza Stark Gene: cdk5r1 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1851 CDK5R1 Zornitza Stark Phenotypes for gene: CDK5R1 were changed from to Intellectual disability; autism
Intellectual disability syndromic and non-syndromic v0.1850 CDK5R1 Zornitza Stark Publications for gene: CDK5R1 were set to
Intellectual disability syndromic and non-syndromic v0.1849 CDK5R1 Zornitza Stark Mode of inheritance for gene: CDK5R1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1848 CDK5R1 Zornitza Stark Classified gene: CDK5R1 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.1848 CDK5R1 Zornitza Stark Gene: cdk5r1 has been classified as Red List (Low Evidence).
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 v0.1847 CCDC88A Zornitza Stark Marked gene: CCDC88A as ready
Intellectual disability syndromic and non-syndromic v0.1847 CCDC88A Zornitza Stark Gene: ccdc88a has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1847 CCDC88A Zornitza Stark Phenotypes for gene: CCDC88A were changed from to PEHO syndrome-like, MIM# 617507
Intellectual disability syndromic and non-syndromic v0.1846 CCDC88A Zornitza Stark Publications for gene: CCDC88A were set to
Intellectual disability syndromic and non-syndromic v0.1845 CCDC88A Zornitza Stark Mode of inheritance for gene: CCDC88A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
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 v0.1844 CARS2 Zornitza Stark Marked gene: CARS2 as ready
Intellectual disability syndromic and non-syndromic v0.1844 CARS2 Zornitza Stark Gene: cars2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1844 CARS2 Zornitza Stark Classified gene: CARS2 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1844 CARS2 Zornitza Stark Gene: cars2 has been classified as Green List (High Evidence).
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 v0.1842 CANT1 Zornitza Stark Marked gene: CANT1 as ready
Intellectual disability syndromic and non-syndromic v0.1842 CANT1 Zornitza Stark Gene: cant1 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1842 CANT1 Zornitza Stark Phenotypes for gene: CANT1 were changed from to Desbuquois dysplasia 1, MIM# 251450
Intellectual disability syndromic and non-syndromic v0.1841 CANT1 Zornitza Stark Mode of inheritance for gene: CANT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1840 CANT1 Zornitza Stark Classified gene: CANT1 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.1840 CANT1 Zornitza Stark Gene: cant1 has been classified as Red List (Low Evidence).
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 v0.1839 CA5A Zornitza Stark Marked gene: CA5A as ready
Intellectual disability syndromic and non-syndromic v0.1839 CA5A Zornitza Stark Gene: ca5a has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1839 CA5A Zornitza Stark Phenotypes for gene: CA5A were changed from to Hyperammonemia due to carbonic anhydrase VA deficiency, MIM# 615751
Intellectual disability syndromic and non-syndromic v0.1838 CA5A Zornitza Stark Publications for gene: CA5A were set to
Intellectual disability syndromic and non-syndromic v0.1837 KIF1A Zornitza Stark Marked gene: KIF1A as ready
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 v0.1837 KIF1A Zornitza Stark Gene: kif1a has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1837 KIF1A Zornitza Stark Phenotypes for gene: KIF1A were changed from to Mental retardation, autosomal dominant 9, MIM#614255
Intellectual disability syndromic and non-syndromic v0.1836 KIF1A Zornitza Stark Publications for gene: KIF1A were set to
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 v0.1834 KIF1A Zornitza Stark Mode of inheritance for gene: KIF1A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1833 ACSL4 Zornitza Stark Marked gene: ACSL4 as ready
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 v0.1833 ACSL4 Zornitza Stark Gene: acsl4 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1833 ACSL4 Zornitza Stark Phenotypes for gene: ACSL4 were changed from to Mental retardation, X-linked 63, MIM# 300387 XLD
Intellectual disability syndromic and non-syndromic v0.1832 ACSL4 Zornitza Stark Publications for gene: ACSL4 were set to
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 Marked gene: CAMTA1 as ready
Intellectual disability syndromic and non-syndromic v0.1830 CAMTA1 Zornitza Stark Gene: camta1 has been classified as Green List (High Evidence).
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 v0.1829 HUWE1 Zornitza Stark Marked gene: HUWE1 as ready
Intellectual disability syndromic and non-syndromic v0.1829 HUWE1 Zornitza Stark Gene: huwe1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1829 CAMTA1 Zornitza Stark Mode of inheritance for gene: CAMTA1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1828 HUWE1 Zornitza Stark Phenotypes for gene: HUWE1 were changed from to Mental retardation, X-linked syndromic, Turner type
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 v0.1826 LAMA2 Zornitza Stark Marked gene: LAMA2 as ready
Intellectual disability syndromic and non-syndromic v0.1826 LAMA2 Zornitza Stark Gene: lama2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1826 LAMA2 Zornitza Stark Phenotypes for gene: LAMA2 were changed from to Muscular dystrophy, congenital, merosin deficient or partially deficient, 607855; Muscular dystrophy, limb-girdle, autosomal recessive 23, MIM#618138; LAMA2-related muscular dystrophy (suggested by PMID: 30055037)
Intellectual disability syndromic and non-syndromic v0.1825 LAMA2 Zornitza Stark Publications for gene: LAMA2 were set to
Intellectual disability syndromic and non-syndromic v0.1824 LAMA2 Zornitza Stark Mode of inheritance for gene: LAMA2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1823 EBP Zornitza Stark Marked gene: EBP as ready
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 v0.1823 EBP Zornitza Stark Gene: ebp has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1823 EBP Zornitza Stark Phenotypes for gene: EBP were changed from to Chondrodysplasia punctata, X-linked dominant MIM#302960; Conradi-Hunermann syndrome; MEND syndrome, MIM#300960
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 Tag somatic tag was added to gene: EBP.
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 Marked gene: ALDH3A2 as ready
Intellectual disability syndromic and non-syndromic v0.1821 ALDH3A2 Zornitza Stark Gene: aldh3a2 has been classified as Green List (High Evidence).
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 v0.1820 ALDH3A2 Zornitza Stark Publications for gene: ALDH3A2 were set to
Intellectual disability syndromic and non-syndromic v0.1819 ALDH3A2 Zornitza Stark Mode of inheritance for gene: ALDH3A2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
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 Marked gene: ABHD5 as ready
Intellectual disability syndromic and non-syndromic v0.1818 ABHD5 Zornitza Stark Gene: abhd5 has been classified as Green List (High Evidence).
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 v0.1817 ABHD5 Zornitza Stark Publications for gene: ABHD5 were set to
Intellectual disability syndromic and non-syndromic v0.1816 ABHD5 Zornitza Stark Mode of inheritance for gene: ABHD5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
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 Marked gene: TUBGCP6 as ready
Intellectual disability syndromic and non-syndromic v0.1815 TUBGCP6 Zornitza Stark Gene: tubgcp6 has been classified as Green List (High Evidence).
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 v0.1814 TUBGCP6 Zornitza Stark Publications for gene: TUBGCP6 were set to
Intellectual disability syndromic and non-syndromic v0.1813 TUBGCP6 Zornitza Stark Mode of inheritance for gene: TUBGCP6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
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 Marked gene: GNAS as ready
Intellectual disability syndromic and non-syndromic v0.1812 GNAS Zornitza Stark Gene: gnas has been classified as Green List (High Evidence).
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 v0.1811 GNAS Zornitza Stark Mode of inheritance for gene: GNAS was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Intellectual disability syndromic and non-syndromic v0.1810 MYT1L Zornitza Stark Marked gene: MYT1L as ready
Intellectual disability syndromic and non-syndromic v0.1810 MYT1L Zornitza Stark Gene: myt1l has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1810 MYT1L Zornitza Stark Publications for gene: MYT1L were set to
Intellectual disability syndromic and non-syndromic v0.1809 MYT1L Zornitza Stark Phenotypes for gene: MYT1L were changed from to Mental retardation, autosomal dominant 39, MIM# 616521
Intellectual disability syndromic and non-syndromic v0.1808 MYT1L Zornitza Stark Mode of inheritance for gene: MYT1L was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1807 IRF2BPL Zornitza Stark Marked gene: IRF2BPL as ready
Intellectual disability syndromic and non-syndromic v0.1807 IRF2BPL Zornitza Stark Gene: irf2bpl has been classified as Green List (High Evidence).
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 v0.1806 IRF2BPL Zornitza Stark Publications for gene: IRF2BPL were set to
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 v0.1805 IRF2BPL Zornitza Stark Mode of inheritance for gene: IRF2BPL was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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 v0.1804 PHF8 Zornitza Stark Marked gene: PHF8 as ready
Intellectual disability syndromic and non-syndromic v0.1804 PHF8 Zornitza Stark Gene: phf8 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1804 PHF8 Zornitza Stark Publications for gene: PHF8 were set to
Intellectual disability syndromic and non-syndromic v0.1803 PHF8 Zornitza Stark Phenotypes for gene: PHF8 were changed from to Mental retardation syndrome, X-linked, Siderius type, MIM#300263
Intellectual disability syndromic and non-syndromic v0.1802 PHF8 Zornitza Stark Mode of inheritance for gene: PHF8 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
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 Marked gene: IARS as ready
Intellectual disability syndromic and non-syndromic v0.1801 IARS Zornitza Stark Gene: iars has been classified as Green List (High Evidence).
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 v0.1800 IARS Zornitza Stark Publications for gene: IARS were set to
Intellectual disability syndromic and non-syndromic v0.1799 IARS Zornitza Stark Mode of inheritance for gene: IARS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
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 v0.1798 SOX5 Zornitza Stark Marked gene: SOX5 as ready
Intellectual disability syndromic and non-syndromic v0.1798 SOX5 Zornitza Stark Added comment: Comment when marking as ready: Note many cases reported of intragenic deletion.
Intellectual disability syndromic and non-syndromic v0.1798 SOX5 Zornitza Stark Gene: sox5 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1798 SOX5 Zornitza Stark Phenotypes for gene: SOX5 were changed from Lamb-Shaffer syndrome, MIM#616803 to Lamb-Shaffer syndrome, MIM#616803
Intellectual disability syndromic and non-syndromic v0.1797 SOX5 Zornitza Stark Phenotypes for gene: SOX5 were changed from to Lamb-Shaffer syndrome, MIM#616803
Intellectual disability syndromic and non-syndromic v0.1797 SOX5 Zornitza Stark Publications for gene: SOX5 were set to
Intellectual disability syndromic and non-syndromic v0.1796 SOX5 Zornitza Stark Mode of inheritance for gene: SOX5 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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 Marked gene: GNAO1 as ready
Intellectual disability syndromic and non-syndromic v0.1795 GNAO1 Zornitza Stark Gene: gnao1 has been classified as Green List (High Evidence).
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 v0.1793 GNAO1 Zornitza Stark Publications for gene: GNAO1 were set to
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 v0.1791 GNAO1 Zornitza Stark Mode of inheritance for gene: GNAO1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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 v0.1790 CAD Zornitza Stark Marked gene: CAD as ready
Intellectual disability syndromic and non-syndromic v0.1790 CAD Zornitza Stark Gene: cad has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1790 CAD Zornitza Stark Classified gene: CAD as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1790 CAD Zornitza Stark Gene: cad has been classified as Green List (High Evidence).
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 v0.1788 CACNG2 Zornitza Stark Marked gene: CACNG2 as ready
Intellectual disability syndromic and non-syndromic v0.1788 CACNG2 Zornitza Stark Gene: cacng2 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1788 CACNG2 Zornitza Stark Mode of inheritance for gene: CACNG2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1787 CACNG2 Zornitza Stark Phenotypes for gene: CACNG2 were changed from to Mental retardation, autosomal dominant 10, MIM#614256
Intellectual disability syndromic and non-syndromic v0.1786 CACNG2 Zornitza Stark Publications for gene: CACNG2 were set to
Intellectual disability syndromic and non-syndromic v0.1785 CACNG2 Zornitza Stark Classified gene: CACNG2 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.1785 CACNG2 Zornitza Stark Gene: cacng2 has been classified as Red List (Low Evidence).
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 v0.1784 PPM1D Zornitza Stark Marked gene: PPM1D as ready
Intellectual disability syndromic and non-syndromic v0.1784 PPM1D Zornitza Stark Gene: ppm1d has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1784 PPM1D Zornitza Stark Phenotypes for gene: PPM1D were changed from to Jansen de Vries syndrome (MIM #617450)
Intellectual disability syndromic and non-syndromic v0.1783 PPM1D Zornitza Stark Publications for gene: PPM1D were set to
Intellectual disability syndromic and non-syndromic v0.1782 PPM1D Zornitza Stark Mode of inheritance for gene: PPM1D was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1781 CLCNKA Zornitza Stark Classified gene: CLCNKA as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.1781 CLCNKA Zornitza Stark Gene: clcnka has been classified as Red List (Low Evidence).
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 v0.1780 CACNA2D2 Zornitza Stark Marked gene: CACNA2D2 as ready
Intellectual disability syndromic and non-syndromic v0.1780 CACNA2D2 Zornitza Stark Gene: cacna2d2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1780 CACNA2D2 Zornitza Stark Classified gene: CACNA2D2 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1780 CACNA2D2 Zornitza Stark Gene: cacna2d2 has been classified as Green List (High Evidence).
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 v0.1778 CA5A Zornitza Stark Mode of inheritance for gene: CA5A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1777 CA5A Zornitza Stark Classified gene: CA5A as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.1777 CA5A Zornitza Stark Gene: ca5a has been classified as Red List (Low Evidence).
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 v0.1776 C8orf37 Zornitza Stark Marked gene: C8orf37 as ready
Intellectual disability syndromic and non-syndromic v0.1776 C8orf37 Zornitza Stark Gene: c8orf37 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1776 C8orf37 Zornitza Stark Classified gene: C8orf37 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.1776 C8orf37 Zornitza Stark Gene: c8orf37 has been classified as Amber List (Moderate Evidence).
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 v0.1774 C2CD3 Zornitza Stark Marked gene: C2CD3 as ready
Intellectual disability syndromic and non-syndromic v0.1774 C2CD3 Zornitza Stark Gene: c2cd3 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1774 C2CD3 Zornitza Stark Phenotypes for gene: C2CD3 were changed from Orofaciodigital syndrome XIV, MIM# 615948 to Orofaciodigital syndrome XIV, MIM# 615948
Intellectual disability syndromic and non-syndromic v0.1773 C2CD3 Zornitza Stark Phenotypes for gene: C2CD3 were changed from to Orofaciodigital syndrome XIV, MIM# 615948
Intellectual disability syndromic and non-syndromic v0.1773 C2CD3 Zornitza Stark Publications for gene: C2CD3 were set to
Intellectual disability syndromic and non-syndromic v0.1772 C2CD3 Zornitza Stark Mode of inheritance for gene: C2CD3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
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 v0.1771 BMPER Zornitza Stark Classified gene: BMPER as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.1771 BMPER Zornitza Stark Gene: bmper has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1770 BMPER Zornitza Stark Classified gene: BMPER as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.1770 BMPER Zornitza Stark Gene: bmper has been classified as Red List (Low Evidence).
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 Marked gene: BIN1 as ready
Intellectual disability syndromic and non-syndromic v0.1769 BIN1 Zornitza Stark Gene: bin1 has been classified as Red List (Low Evidence).
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 v0.1767 BIN1 Zornitza Stark Mode of inheritance for gene: BIN1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1767 BIN1 Zornitza Stark Classified gene: BIN1 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.1767 BIN1 Zornitza Stark Gene: bin1 has been classified as Red List (Low Evidence).
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 v0.1766 ATP6V1A Zornitza Stark Marked gene: ATP6V1A as ready
Intellectual disability syndromic and non-syndromic v0.1766 ATP6V1A Zornitza Stark Gene: atp6v1a has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1766 ATP6V1A Zornitza Stark Classified gene: ATP6V1A as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1766 ATP6V1A Zornitza Stark Gene: atp6v1a has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1765 ATP6V1A Zornitza Stark Classified gene: ATP6V1A as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1765 ATP6V1A Zornitza Stark Gene: atp6v1a has been classified as Green List (High Evidence).
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 v0.1763 ATP1A2 Zornitza Stark Marked gene: ATP1A2 as ready
Intellectual disability syndromic and non-syndromic v0.1763 ATP1A2 Zornitza Stark Gene: atp1a2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1763 ATP1A2 Zornitza Stark Phenotypes for gene: ATP1A2 were changed from Alternating hemiplegia of childhood 1, MIM# 104290 to Alternating hemiplegia of childhood 1, MIM# 104290
Intellectual disability syndromic and non-syndromic v0.1762 ATP1A2 Zornitza Stark Phenotypes for gene: ATP1A2 were changed from to Alternating hemiplegia of childhood 1, MIM# 104290
Intellectual disability syndromic and non-syndromic v0.1761 ATP1A2 Zornitza Stark Mode of inheritance for gene: ATP1A2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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 v0.1760 FBXW11 Alison Yeung Classified gene: FBXW11 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1760 FBXW11 Alison Yeung Gene: fbxw11 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1760 FBXW11 Alison Yeung Classified gene: FBXW11 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1760 FBXW11 Alison Yeung Gene: fbxw11 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1760 FBXW11 Alison Yeung Marked gene: FBXW11 as ready
Intellectual disability syndromic and non-syndromic v0.1760 FBXW11 Alison Yeung Gene: fbxw11 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1760 FBXW11 Alison Yeung Classified gene: FBXW11 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1760 FBXW11 Alison Yeung Gene: fbxw11 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1759 FBXW11 Alison Yeung gene: FBXW11 was added
gene: FBXW11 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: FBXW11 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: FBXW11 were set to PMID: 31402090
Phenotypes for gene: FBXW11 were set to Intellectual disability; developmental eye anomalies; digital anomalies
Review for gene: FBXW11 was set to GREEN
gene: FBXW11 was marked as current diagnostic
Added comment: Reported in >3 unrelated individuals
Functional studies in Zebrafish
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1758 MAB21L1 Zornitza Stark Marked gene: MAB21L1 as ready
Intellectual disability syndromic and non-syndromic v0.1758 MAB21L1 Zornitza Stark Gene: mab21l1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1758 MAB21L1 Zornitza Stark Classified gene: MAB21L1 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1758 MAB21L1 Zornitza Stark Gene: mab21l1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1757 MAB21L1 Zornitza Stark Classified gene: MAB21L1 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1757 MAB21L1 Zornitza Stark Gene: mab21l1 has been classified as Green List (High Evidence).
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 v0.1755 ASMT Zornitza Stark Marked gene: ASMT as ready
Intellectual disability syndromic and non-syndromic v0.1755 ASMT Zornitza Stark Gene: asmt has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1755 ASMT Zornitza Stark Publications for gene: ASMT were set to 21251267
Intellectual disability syndromic and non-syndromic v0.1754 ASMT Zornitza Stark Publications for gene: ASMT were set to
Intellectual disability syndromic and non-syndromic v0.1753 ASMT Zornitza Stark Classified gene: ASMT as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.1753 ASMT Zornitza Stark Gene: asmt has been classified as Red List (Low Evidence).
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 v0.1752 MAB21L1 Sue White gene: MAB21L1 was added
gene: MAB21L1 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: MAB21L1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MAB21L1 were set to 30487245
Phenotypes for gene: MAB21L1 were set to Cerebellar, ocular, craniofacial, and genital syndrome MIM#618479
Penetrance for gene: MAB21L1 were set to Complete
Review for gene: MAB21L1 was set to GREEN
Added comment: Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1751 ARHGEF6 Zornitza Stark Phenotypes for gene: ARHGEF6 were changed from MENTAL RETARDATION X-LINKED TYPE 46 to MENTAL RETARDATION X-LINKED TYPE 46
Intellectual disability syndromic and non-syndromic v0.1751 ARHGEF6 Zornitza Stark Marked gene: ARHGEF6 as ready
Intellectual disability syndromic and non-syndromic v0.1751 ARHGEF6 Zornitza Stark Gene: arhgef6 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1751 ARHGEF6 Zornitza Stark Phenotypes for gene: ARHGEF6 were changed from to MENTAL RETARDATION X-LINKED TYPE 46
Intellectual disability syndromic and non-syndromic v0.1750 ARHGEF6 Zornitza Stark Publications for gene: ARHGEF6 were set to 11017088
Intellectual disability syndromic and non-syndromic v0.1750 ARHGEF6 Zornitza Stark Publications for gene: ARHGEF6 were set to
Intellectual disability syndromic and non-syndromic v0.1749 AR Zornitza Stark Marked gene: AR as ready
Intellectual disability syndromic and non-syndromic v0.1749 AR Zornitza Stark Gene: ar has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1749 AR Zornitza Stark Phenotypes for gene: AR were changed from to Spinal and bulbar muscular atrophy of Kennedy, MIM# 313200
Intellectual disability syndromic and non-syndromic v0.1749 ARHGEF6 Zornitza Stark Classified gene: ARHGEF6 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.1749 ARHGEF6 Zornitza Stark Gene: arhgef6 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1748 ARHGEF6 Zornitza Stark Mode of inheritance for gene: ARHGEF6 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Intellectual disability syndromic and non-syndromic v0.1747 ARHGEF6 Zornitza Stark Classified gene: ARHGEF6 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.1747 ARHGEF6 Zornitza Stark Gene: arhgef6 has been classified as Red List (Low Evidence).
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 v0.1746 AR Zornitza Stark Mode of inheritance for gene: AR was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Intellectual disability syndromic and non-syndromic v0.1746 AR Zornitza Stark Classified gene: AR as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.1746 AR Zornitza Stark Gene: ar has been classified as Red List (Low Evidence).
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 v0.1745 ANK3 Zornitza Stark Publications for gene: ANK3 were set to 23390136; 28687526
Intellectual disability syndromic and non-syndromic v0.1745 ANK3 Zornitza Stark Marked gene: ANK3 as ready
Intellectual disability syndromic and non-syndromic v0.1745 ANK3 Zornitza Stark Gene: ank3 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1745 ANK3 Zornitza Stark Publications for gene: ANK3 were set to 23390136; 28687526
Intellectual disability syndromic and non-syndromic v0.1744 ANK3 Zornitza Stark Publications for gene: ANK3 were set to
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 v0.1744 ANK3 Zornitza Stark Phenotypes for gene: ANK3 were changed from to Mental retardation, autosomal recessive, 37 615493
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 v0.1743 ANK3 Zornitza Stark Classified gene: ANK3 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.1743 ANK3 Zornitza Stark Gene: ank3 has been classified as Red List (Low Evidence).
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 v0.1742 ALX4 Zornitza Stark Marked gene: ALX4 as ready
Intellectual disability syndromic and non-syndromic v0.1742 ALX4 Zornitza Stark Gene: alx4 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1742 ALX4 Zornitza Stark Phenotypes for gene: ALX4 were changed from to Frontonasal dysplasia 2, MIM# 613451
Intellectual disability syndromic and non-syndromic v0.1742 ALX4 Zornitza Stark Publications for gene: ALX4 were set to
Intellectual disability syndromic and non-syndromic v0.1741 ALX4 Zornitza Stark Mode of inheritance for gene: ALX4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1740 ALX4 Zornitza Stark Classified gene: ALX4 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.1740 ALX4 Zornitza Stark Gene: alx4 has been classified as Amber List (Moderate Evidence).
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 v0.1739 ALX3 Zornitza Stark Classified gene: ALX3 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.1739 ALX3 Zornitza Stark Gene: alx3 has been classified as Amber List (Moderate Evidence).
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 v0.1738 ALKBH8 Zornitza Stark Classified gene: ALKBH8 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1738 ALKBH8 Zornitza Stark Gene: alkbh8 has been classified as Green List (High Evidence).
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 Marked gene: ALG2 as ready
Intellectual disability syndromic and non-syndromic v0.1737 ALG2 Zornitza Stark Gene: alg2 has been classified as Red List (Low Evidence).
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 v0.1735 ALG2 Zornitza Stark Mode of inheritance for gene: ALG2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1734 ALG2 Zornitza Stark Classified gene: ALG2 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.1734 ALG2 Zornitza Stark Gene: alg2 has been classified as Red List (Low Evidence).
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 v0.1733 CACNA1D Zornitza Stark Phenotypes for gene: CACNA1D were changed from Primary aldosteronism, seizures, and neurologic abnormalities, MIM# 615474; intellectual disability; autism; epilepsy to Primary aldosteronism, seizures, and neurologic abnormalities, MIM# 615474; intellectual disability; autism; epilepsy
Intellectual disability syndromic and non-syndromic v0.1733 CACNA1D Zornitza Stark Marked gene: CACNA1D as ready
Intellectual disability syndromic and non-syndromic v0.1733 CACNA1D Zornitza Stark Gene: cacna1d has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1733 CACNA1D Zornitza Stark Phenotypes for gene: CACNA1D were changed from to Primary aldosteronism, seizures, and neurologic abnormalities, MIM# 615474; intellectual disability; autism; epilepsy
Intellectual disability syndromic and non-syndromic v0.1732 CACNA1D Zornitza Stark Publications for gene: CACNA1D were set to
Intellectual disability syndromic and non-syndromic v0.1732 CACNA1D Zornitza Stark Mode of inheritance for gene: CACNA1D was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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 v0.1731 ANKRD11 Zornitza Stark Phenotypes for gene: ANKRD11 were changed from KBG syndrome, MIM # 148050 to KBG syndrome, MIM # 148050
Intellectual disability syndromic and non-syndromic v0.1730 ANKRD11 Zornitza Stark Marked gene: ANKRD11 as ready
Intellectual disability syndromic and non-syndromic v0.1730 ANKRD11 Zornitza Stark Gene: ankrd11 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1730 ANKRD11 Zornitza Stark Phenotypes for gene: ANKRD11 were changed from to KBG syndrome, MIM # 148050
Intellectual disability syndromic and non-syndromic v0.1730 ANKRD11 Zornitza Stark Mode of inheritance for gene: ANKRD11 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1729 ALDOB Zornitza Stark Classified gene: ALDOB as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.1729 ALDOB Zornitza Stark Gene: aldob has been classified as Red List (Low Evidence).
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 v0.1728 CTBP1 Zornitza Stark Classified gene: CTBP1 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1728 CTBP1 Zornitza Stark Gene: ctbp1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1728 CTBP1 Zornitza Stark Marked gene: CTBP1 as ready
Intellectual disability syndromic and non-syndromic v0.1728 CTBP1 Zornitza Stark Gene: ctbp1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1728 CTBP1 Zornitza Stark Classified gene: CTBP1 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1728 CTBP1 Zornitza Stark Gene: ctbp1 has been classified as Green List (High Evidence).
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 v0.1726 AHCY Zornitza Stark Publications for gene: AHCY were set to
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 v0.1725 AGO1 Zornitza Stark Marked gene: AGO1 as ready
Intellectual disability syndromic and non-syndromic v0.1725 AGO1 Zornitza Stark Gene: ago1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1725 AGO1 Zornitza Stark Classified gene: AGO1 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1725 AGO1 Zornitza Stark Gene: ago1 has been classified as Green List (High Evidence).
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 v0.1723 CNOT2 Sebastian Lunke Marked gene: CNOT2 as ready
Intellectual disability syndromic and non-syndromic v0.1723 CNOT2 Sebastian Lunke Gene: cnot2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1723 CNOT2 Sebastian Lunke Classified gene: CNOT2 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1723 CNOT2 Sebastian Lunke Gene: cnot2 has been classified as Green List (High Evidence).
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 v0.1721 AGL Zornitza Stark Marked gene: AGL as ready
Intellectual disability syndromic and non-syndromic v0.1721 AGL Zornitza Stark Gene: agl has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1721 AGL Zornitza Stark Phenotypes for gene: AGL were changed from to Glycogen storage disease IIIa, MIM# 232400
Intellectual disability syndromic and non-syndromic v0.1720 AGL Zornitza Stark Mode of inheritance for gene: AGL was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1720 AGL Zornitza Stark Classified gene: AGL as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.1720 AGL Zornitza Stark Gene: agl has been classified as Red List (Low Evidence).
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 v0.1719 CNOT1 Sebastian Lunke Marked gene: CNOT1 as ready
Intellectual disability syndromic and non-syndromic v0.1719 CNOT1 Sebastian Lunke Gene: cnot1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1719 CNOT1 Sebastian Lunke Classified gene: CNOT1 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1719 CNOT1 Sebastian Lunke Gene: cnot1 has been classified as Green List (High Evidence).
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 Marked gene: ACAT1 as ready
Intellectual disability syndromic and non-syndromic v0.1717 ACAT1 Zornitza Stark Gene: acat1 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1717 ACAT1 Zornitza Stark Deleted their comment
Intellectual disability syndromic and non-syndromic v0.1717 CCDC88C Sebastian Lunke Phenotypes for gene: CCDC88C were changed from Spinocerebellar ataxia 40, MIM#616053 to Hydrocephalus, nonsyndromic, autosomal recessive 236600 AR
Intellectual disability syndromic and non-syndromic v0.1717 CCDC88C Sebastian Lunke Mode of inheritance for gene: CCDC88C was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1716 CCDC88C Sebastian Lunke Mode of inheritance for gene: CCDC88C was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1715 CCDC88C Sebastian Lunke Classified gene: CCDC88C as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1715 CCDC88C Sebastian Lunke Gene: ccdc88c has been classified as Green List (High Evidence).
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 v0.1714 CCDC47 Sebastian Lunke Classified gene: CCDC47 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1714 CCDC47 Sebastian Lunke Gene: ccdc47 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1713 CCDC47 Sebastian Lunke Classified gene: CCDC47 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1713 CCDC47 Sebastian Lunke Gene: ccdc47 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1712 CCDC47 Sebastian Lunke Marked gene: CCDC47 as ready
Intellectual disability syndromic and non-syndromic v0.1712 CCDC47 Sebastian Lunke Gene: ccdc47 has been classified as Red List (Low Evidence).
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 v0.1710 ACAT1 Zornitza Stark Mode of inheritance for gene: ACAT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1709 ACAT1 Zornitza Stark Classified gene: ACAT1 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.1709 ACAT1 Zornitza Stark Gene: acat1 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1708 ACADSB Zornitza Stark Marked gene: ACADSB as ready
Intellectual disability syndromic and non-syndromic v0.1708 ACADSB Zornitza Stark Gene: acadsb has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1708 ACAT1 Zornitza Stark commented on gene: ACAT1: Primarily manifests as metabolic decompensation, DD/ID reported in a few individuals, mostly normal cognition.
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 v0.1706 ACADSB Zornitza Stark Mode of inheritance for gene: ACADSB was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1705 ACADSB Zornitza Stark Classified gene: ACADSB as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.1705 ACADSB Zornitza Stark Gene: acadsb has been classified as Amber List (Moderate Evidence).
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 v0.1704 CLIC2 Zornitza Stark Marked gene: CLIC2 as ready
Intellectual disability syndromic and non-syndromic v0.1704 CLIC2 Zornitza Stark Gene: clic2 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1704 CLIC2 Zornitza Stark Phenotypes for gene: CLIC2 were changed from to Mental retardation, X-linked, syndromic 32, 300886
Intellectual disability syndromic and non-syndromic v0.1704 CLIC2 Zornitza Stark Publications for gene: CLIC2 were set to
Intellectual disability syndromic and non-syndromic v0.1703 CLIC2 Zornitza Stark Mode of inheritance for gene: CLIC2 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Intellectual disability syndromic and non-syndromic v0.1703 CLIC2 Zornitza Stark Classified gene: CLIC2 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.1703 CLIC2 Zornitza Stark Gene: clic2 has been classified as Red List (Low Evidence).
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 Marked gene: SLC6A9 as ready
Intellectual disability syndromic and non-syndromic v0.1702 SLC6A9 Zornitza Stark Gene: slc6a9 has been classified as Green List (High Evidence).
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 v0.1701 SLC6A9 Zornitza Stark Publications for gene: SLC6A9 were set to
Intellectual disability syndromic and non-syndromic v0.1700 SLC6A9 Zornitza Stark Mode of inheritance for gene: SLC6A9 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
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 v0.1699 DHFR Zornitza Stark Marked gene: DHFR as ready
Intellectual disability syndromic and non-syndromic v0.1699 DHFR Zornitza Stark Gene: dhfr has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1699 DHFR Zornitza Stark Phenotypes for gene: DHFR were changed from to Megaloblastic anemia due to dihydrofolate reductase deficiency, MIM# 613839
Intellectual disability syndromic and non-syndromic v0.1698 DHFR Zornitza Stark Publications for gene: DHFR were set to
Intellectual disability syndromic and non-syndromic v0.1697 DHFR Zornitza Stark Mode of inheritance for gene: DHFR was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
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 v0.1696 SLC39A8 Zornitza Stark Phenotypes for gene: SLC39A8 were changed from Congenital disorder of glycosylation, type IIn , MIM#16721 to Congenital disorder of glycosylation, type IIn , MIM#16721
Intellectual disability syndromic and non-syndromic v0.1695 SLC39A8 Zornitza Stark Marked gene: SLC39A8 as ready
Intellectual disability syndromic and non-syndromic v0.1695 SLC39A8 Zornitza Stark Gene: slc39a8 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1695 SLC39A8 Zornitza Stark Mode of inheritance for gene: SLC39A8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1694 SLC39A8 Zornitza Stark Phenotypes for gene: SLC39A8 were changed from to Congenital disorder of glycosylation, type IIn , MIM#16721
Intellectual disability syndromic and non-syndromic v0.1694 SLC39A8 Zornitza Stark Publications for gene: SLC39A8 were set to
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 v0.1693 PIGS Zornitza Stark Marked gene: PIGS as ready
Intellectual disability syndromic and non-syndromic v0.1693 PIGS Zornitza Stark Gene: pigs has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1693 PIGS Zornitza Stark Classified gene: PIGS as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1693 PIGS Zornitza Stark Gene: pigs has been classified as Green List (High Evidence).
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 v0.1691 FUK Zornitza Stark Marked gene: FUK as ready
Intellectual disability syndromic and non-syndromic v0.1691 FUK Zornitza Stark Gene: fuk has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1691 FUK Zornitza Stark Classified gene: FUK as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.1691 FUK Zornitza Stark Gene: fuk has been classified as Amber List (Moderate Evidence).
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 v0.1689 ZNF142 Zornitza Stark Marked gene: ZNF142 as ready
Intellectual disability syndromic and non-syndromic v0.1689 ZNF142 Zornitza Stark Gene: znf142 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1689 ZNF142 Zornitza Stark Classified gene: ZNF142 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1689 ZNF142 Zornitza Stark Gene: znf142 has been classified as Green List (High Evidence).
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 v0.1687 WARS2 Zornitza Stark Classified gene: WARS2 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1687 WARS2 Zornitza Stark Gene: wars2 has been classified as Green List (High Evidence).
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 v0.1685 VPS11 Zornitza Stark Marked gene: VPS11 as ready
Intellectual disability syndromic and non-syndromic v0.1685 VPS11 Zornitza Stark Gene: vps11 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1685 VPS11 Zornitza Stark Classified gene: VPS11 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1685 VPS11 Zornitza Stark Gene: vps11 has been classified as Green List (High Evidence).
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 v0.1683 TRAPPC12 Zornitza Stark Classified gene: TRAPPC12 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1683 TRAPPC12 Zornitza Stark Gene: trappc12 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1682 TRAPPC12 Zornitza Stark Added comment: Comment on publications: Additional unpublished case reported by GEL.
Intellectual disability syndromic and non-syndromic v0.1682 TRAPPC12 Zornitza Stark Publications for gene: TRAPPC12 were set to 28777934
Intellectual disability syndromic and non-syndromic v0.1682 TRAPPC12 Zornitza Stark Marked gene: TRAPPC12 as ready
Intellectual disability syndromic and non-syndromic v0.1682 TRAPPC12 Zornitza Stark Added comment: Comment when marking as ready: Additional unpublished case reported by GEL PanelApp.
Intellectual disability syndromic and non-syndromic v0.1682 TRAPPC12 Zornitza Stark Gene: trappc12 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1682 TRAPPC12 Zornitza Stark Classified gene: TRAPPC12 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1682 TRAPPC12 Zornitza Stark Gene: trappc12 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1682 TRAPPC12 Zornitza Stark Added comment: Comment on publications: Additional unpublished case reported by GEL.
Intellectual disability syndromic and non-syndromic v0.1682 TRAPPC12 Zornitza Stark Publications for gene: TRAPPC12 were set to 28777934
Intellectual disability syndromic and non-syndromic v0.1682 TRAPPC12 Zornitza Stark Classified gene: TRAPPC12 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1682 TRAPPC12 Zornitza Stark Gene: trappc12 has been classified as Green List (High Evidence).
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 v0.1681 TRAPPC12 Zornitza Stark Publications for gene: TRAPPC12 were set to
Intellectual disability syndromic and non-syndromic v0.1681 TRAPPC12 Zornitza Stark Mode of inheritance for gene: TRAPPC12 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1680 TRAPPC12 Zornitza Stark Classified gene: TRAPPC12 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.1680 TRAPPC12 Zornitza Stark Gene: trappc12 has been classified as Amber List (Moderate Evidence).
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 v0.1679 SLC1A4 Zornitza Stark Marked gene: SLC1A4 as ready
Intellectual disability syndromic and non-syndromic v0.1679 SLC1A4 Zornitza Stark Gene: slc1a4 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1679 SLC1A4 Zornitza Stark Classified gene: SLC1A4 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1679 SLC1A4 Zornitza Stark Gene: slc1a4 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1678 SLC1A4 Zornitza Stark Classified gene: SLC1A4 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1678 SLC1A4 Zornitza Stark Gene: slc1a4 has been classified as Green List (High Evidence).
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 v0.1676 NBEA Zornitza Stark Marked gene: NBEA as ready
Intellectual disability syndromic and non-syndromic v0.1676 NBEA Zornitza Stark Gene: nbea has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1676 NBEA Zornitza Stark Classified gene: NBEA as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1676 NBEA Zornitza Stark Gene: nbea has been classified as Green List (High Evidence).
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 v0.1674 MACF1 Zornitza Stark Marked gene: MACF1 as ready
Intellectual disability syndromic and non-syndromic v0.1674 MACF1 Zornitza Stark Gene: macf1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1674 MACF1 Zornitza Stark Classified gene: MACF1 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1674 MACF1 Zornitza Stark Gene: macf1 has been classified as Green List (High Evidence).
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 v0.1671 NLGN4X Zornitza Stark Marked gene: NLGN4X as ready
Intellectual disability syndromic and non-syndromic v0.1671 NLGN4X Zornitza Stark Gene: nlgn4x has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1671 NLGN4X Zornitza Stark Phenotypes for gene: NLGN4X were changed from to Mental retardation, X-linked, MIM# 300495
Intellectual disability syndromic and non-syndromic v0.1670 NLGN4X Zornitza Stark Publications for gene: NLGN4X were set to
Intellectual disability syndromic and non-syndromic v0.1669 NLGN4X Zornitza Stark Mode of inheritance for gene: NLGN4X was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Intellectual disability syndromic and non-syndromic v0.1668 NLGN4X Zornitza Stark Classified gene: NLGN4X as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.1668 NLGN4X Zornitza Stark Gene: nlgn4x has been classified as Red List (Low Evidence).
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 v0.1667 KATNB1 Zornitza Stark Marked gene: KATNB1 as ready
Intellectual disability syndromic and non-syndromic v0.1667 KATNB1 Zornitza Stark Gene: katnb1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1667 KATNB1 Zornitza Stark Classified gene: KATNB1 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1667 KATNB1 Zornitza Stark Gene: katnb1 has been classified as Green List (High Evidence).
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 v0.1665 GNB5 Zornitza Stark Marked gene: GNB5 as ready
Intellectual disability syndromic and non-syndromic v0.1665 GNB5 Zornitza Stark Gene: gnb5 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1665 GNB5 Zornitza Stark Classified gene: GNB5 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1665 GNB5 Zornitza Stark Gene: gnb5 has been classified as Green List (High Evidence).
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 v0.1663 FAR1 Zornitza Stark Marked gene: FAR1 as ready
Intellectual disability syndromic and non-syndromic v0.1663 FAR1 Zornitza Stark Gene: far1 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1663 FAR1 Zornitza Stark Phenotypes for gene: FAR1 were changed from to Peroxisomal fatty acyl-CoA reductase 1 disorder, MIM#616154
Intellectual disability syndromic and non-syndromic v0.1663 FAR1 Zornitza Stark Publications for gene: FAR1 were set to
Intellectual disability syndromic and non-syndromic v0.1662 FAR1 Zornitza Stark Mode of inheritance for gene: FAR1 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1661 FAR1 Zornitza Stark Mode of inheritance for gene: FAR1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1660 FAR1 Zornitza Stark Classified gene: FAR1 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.1660 FAR1 Zornitza Stark Gene: far1 has been classified as Amber List (Moderate Evidence).
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 v0.1659 GOT2 Zornitza Stark Marked gene: GOT2 as ready
Intellectual disability syndromic and non-syndromic v0.1659 GOT2 Zornitza Stark Gene: got2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1659 GOT2 Zornitza Stark Classified gene: GOT2 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1659 GOT2 Zornitza Stark Gene: got2 has been classified as Green List (High Evidence).
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 v0.1657 RAB11A Zornitza Stark Marked gene: RAB11A as ready
Intellectual disability syndromic and non-syndromic v0.1657 RAB11A Zornitza Stark Gene: rab11a has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1657 RAB11A Zornitza Stark Classified gene: RAB11A as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.1657 RAB11A Zornitza Stark Gene: rab11a has been classified as Amber List (Moderate Evidence).
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 v0.1655 DHPS Zornitza Stark Marked gene: DHPS as ready
Intellectual disability syndromic and non-syndromic v0.1655 DHPS Zornitza Stark Gene: dhps has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1655 DHPS Zornitza Stark Classified gene: DHPS as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1655 DHPS Zornitza Stark Gene: dhps has been classified as Green List (High Evidence).
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 v0.1653 DHDDS Zornitza Stark Marked gene: DHDDS as ready
Intellectual disability syndromic and non-syndromic v0.1653 DHDDS Zornitza Stark Gene: dhdds has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1653 DHDDS Zornitza Stark Classified gene: DHDDS as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1653 DHDDS Zornitza Stark Gene: dhdds has been classified as Green List (High Evidence).
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 v0.1651 DEGS1 Zornitza Stark Marked gene: DEGS1 as ready
Intellectual disability syndromic and non-syndromic v0.1651 DEGS1 Zornitza Stark Gene: degs1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1651 DEGS1 Zornitza Stark Classified gene: DEGS1 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1651 DEGS1 Zornitza Stark Gene: degs1 has been classified as Green List (High Evidence).
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 v0.1649 RBFOX1 Zornitza Stark Publications for gene: RBFOX1 were set to 24664471
Intellectual disability syndromic and non-syndromic v0.1649 RBFOX1 Zornitza Stark Marked gene: RBFOX1 as ready
Intellectual disability syndromic and non-syndromic v0.1649 RBFOX1 Zornitza Stark Gene: rbfox1 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1649 RBFOX1 Zornitza Stark Phenotypes for gene: RBFOX1 were changed from Intellectual disability; autism to Intellectual disability; autism
Intellectual disability syndromic and non-syndromic v0.1648 RBFOX1 Zornitza Stark Phenotypes for gene: RBFOX1 were changed from to Intellectual disability; autism
Intellectual disability syndromic and non-syndromic v0.1648 RBFOX1 Zornitza Stark Publications for gene: RBFOX1 were set to
Intellectual disability syndromic and non-syndromic v0.1648 DDOST Zornitza Stark Phenotypes for gene: DDOST were changed from Congenital disorder of glycosylation, type Ir, MIM# 614507 to Congenital disorder of glycosylation, type Ir, MIM# 614507
Intellectual disability syndromic and non-syndromic v0.1647 RBFOX1 Zornitza Stark Mode of inheritance for gene: RBFOX1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1647 DDOST Zornitza Stark Marked gene: DDOST as ready
Intellectual disability syndromic and non-syndromic v0.1647 DDOST Zornitza Stark Gene: ddost has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1647 DDOST Zornitza Stark Phenotypes for gene: DDOST were changed from to Congenital disorder of glycosylation, type Ir, MIM# 614507
Intellectual disability syndromic and non-syndromic v0.1647 RBFOX1 Zornitza Stark Classified gene: RBFOX1 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.1647 RBFOX1 Zornitza Stark Gene: rbfox1 has been classified as Red List (Low Evidence).
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 v0.1646 DDOST Zornitza Stark Publications for gene: DDOST were set to
Intellectual disability syndromic and non-syndromic v0.1645 DDOST Zornitza Stark Mode of inheritance for gene: DDOST was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1644 DDOST Zornitza Stark Classified gene: DDOST as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.1644 DDOST Zornitza Stark Gene: ddost has been classified as Amber List (Moderate Evidence).
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 v0.1643 NTNG1 Zornitza Stark Marked gene: NTNG1 as ready
Intellectual disability syndromic and non-syndromic v0.1643 NTNG1 Zornitza Stark Gene: ntng1 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1643 NTNG1 Zornitza Stark Classified gene: NTNG1 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.1643 NTNG1 Zornitza Stark Gene: ntng1 has been classified as Red List (Low Evidence).
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 v0.1640 CACNA1B Zornitza Stark Marked gene: CACNA1B as ready
Intellectual disability syndromic and non-syndromic v0.1640 CACNA1B Zornitza Stark Gene: cacna1b has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1640 CACNA1B Zornitza Stark Classified gene: CACNA1B as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1640 CACNA1B Zornitza Stark Gene: cacna1b has been classified as Green List (High Evidence).
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 v0.1638 CDH2 Zornitza Stark Marked gene: CDH2 as ready
Intellectual disability syndromic and non-syndromic v0.1638 CDH2 Zornitza Stark Gene: cdh2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1638 CDH2 Zornitza Stark Classified gene: CDH2 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1638 CDH2 Zornitza Stark Gene: cdh2 has been classified as Green List (High Evidence).
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 v0.1635 NTNG2 Zornitza Stark Marked gene: NTNG2 as ready
Intellectual disability syndromic and non-syndromic v0.1635 NTNG2 Zornitza Stark Gene: ntng2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1635 NTNG2 Zornitza Stark Classified gene: NTNG2 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1635 NTNG2 Zornitza Stark Gene: ntng2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1634 NTNG2 Zornitza Stark gene: NTNG2 was added
gene: NTNG2 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: NTNG2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NTNG2 were set to 31668703
Phenotypes for gene: NTNG2 were set to Intellectual disability; autism; dysmorphic features
Review for gene: NTNG2 was set to GREEN
Added comment: 16 individuals from 7 unrelated families.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1633 TUBGCP2 Zornitza Stark Marked gene: TUBGCP2 as ready
Intellectual disability syndromic and non-syndromic v0.1633 TUBGCP2 Zornitza Stark Gene: tubgcp2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1633 TUBGCP2 Zornitza Stark Classified gene: TUBGCP2 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1633 TUBGCP2 Zornitza Stark Gene: tubgcp2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1632 TUBGCP2 Zornitza Stark gene: TUBGCP2 was added
gene: TUBGCP2 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: TUBGCP2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TUBGCP2 were set to 31630790
Phenotypes for gene: TUBGCP2 were set to Lissencephaly; pachygyria; subcortical band heterotopia; microcephaly; intellectual disability
Review for gene: TUBGCP2 was set to GREEN
Added comment: Four unrelated families reported.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1631 TP73 Zornitza Stark Marked gene: TP73 as ready
Intellectual disability syndromic and non-syndromic v0.1631 TP73 Zornitza Stark Gene: tp73 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1631 TP73 Zornitza Stark Classified gene: TP73 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.1631 TP73 Zornitza Stark Gene: tp73 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1630 TP73 Zornitza Stark gene: TP73 was added
gene: TP73 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: TP73 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TP73 were set to 31130284
Phenotypes for gene: TP73 were set to Intellectual disability; lissencephaly
Review for gene: TP73 was set to AMBER
Added comment: Two unrelated families, no functional data.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1629 SMG8 Zornitza Stark Marked gene: SMG8 as ready
Intellectual disability syndromic and non-syndromic v0.1629 SMG8 Zornitza Stark Gene: smg8 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1629 SMG8 Zornitza Stark Classified gene: SMG8 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.1629 SMG8 Zornitza Stark Gene: smg8 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1628 SMG8 Zornitza Stark gene: SMG8 was added
gene: SMG8 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: SMG8 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SMG8 were set to 31130284
Phenotypes for gene: SMG8 were set to Intellectual disability
Review for gene: SMG8 was set to AMBER
Added comment: Two unrelated families, no functional data.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1627 IQSEC3 Zornitza Stark Marked gene: IQSEC3 as ready
Intellectual disability syndromic and non-syndromic v0.1627 IQSEC3 Zornitza Stark Gene: iqsec3 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1627 IQSEC3 Zornitza Stark Classified gene: IQSEC3 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.1627 IQSEC3 Zornitza Stark Gene: iqsec3 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1626 IQSEC3 Zornitza Stark gene: IQSEC3 was added
gene: IQSEC3 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: IQSEC3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IQSEC3 were set to 31130284
Phenotypes for gene: IQSEC3 were set to Intellectual disability
Review for gene: IQSEC3 was set to AMBER
Added comment: Two unrelated families, no functional data.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1625 ICE1 Zornitza Stark Marked gene: ICE1 as ready
Intellectual disability syndromic and non-syndromic v0.1625 ICE1 Zornitza Stark Gene: ice1 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1625 ICE1 Zornitza Stark Classified gene: ICE1 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.1625 ICE1 Zornitza Stark Gene: ice1 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1624 ICE1 Zornitza Stark gene: ICE1 was added
gene: ICE1 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: ICE1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ICE1 were set to 31130284
Phenotypes for gene: ICE1 were set to Intellectual disability, cerebral atrophy
Review for gene: ICE1 was set to AMBER
Added comment: Two unrelated families reported, no functional data; part of large consanguineous cohort, mixed phenotypes.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1623 EIF2A Alison Yeung Classified gene: EIF2A as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.1623 EIF2A Alison Yeung Gene: eif2a has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1622 EIF2A Alison Yeung Marked gene: EIF2A as ready
Intellectual disability syndromic and non-syndromic v0.1622 EIF2A Alison Yeung Gene: eif2a has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1622 EIF2A Alison Yeung Classified gene: EIF2A as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.1622 EIF2A Alison Yeung Gene: eif2a has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1622 EIF2A Alison Yeung Classified gene: EIF2A as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.1622 EIF2A Alison Yeung Gene: eif2a has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1621 EIF2A Alison Yeung gene: EIF2A was added
gene: EIF2A was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: EIF2A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EIF2A were set to PMID: 31130284
Phenotypes for gene: EIF2A were set to Intellectual disability, epilepsy
Review for gene: EIF2A was set to AMBER
Added comment: two unrelated families reported, no functional data
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1620 KCNN3 Alison Yeung Marked gene: KCNN3 as ready
Intellectual disability syndromic and non-syndromic v0.1620 KCNN3 Alison Yeung Gene: kcnn3 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1620 KCNN3 Alison Yeung Classified gene: KCNN3 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1620 KCNN3 Alison Yeung Gene: kcnn3 has been classified as Green List (High Evidence).
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 v0.1618 CTNND2 Zornitza Stark Marked gene: CTNND2 as ready
Intellectual disability syndromic and non-syndromic v0.1618 CTNND2 Zornitza Stark Gene: ctnnd2 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1618 CTNND2 Zornitza Stark Phenotypes for gene: CTNND2 were changed from Intellectual disability; Autism; Epilepsy to Intellectual disability; Autism; Epilepsy
Intellectual disability syndromic and non-syndromic v0.1618 CTNND2 Zornitza Stark Mode of inheritance for gene: CTNND2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1617 CTNND2 Zornitza Stark Phenotypes for gene: CTNND2 were changed from to Intellectual disability; Autism; Epilepsy
Intellectual disability syndromic and non-syndromic v0.1617 CTNND2 Zornitza Stark Publications for gene: CTNND2 were set to
Intellectual disability syndromic and non-syndromic v0.1616 CTNND2 Zornitza Stark Classified gene: CTNND2 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.1616 CTNND2 Zornitza Stark Gene: ctnnd2 has been classified as Amber List (Moderate Evidence).
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 v0.1615 IQSEC1 Zornitza Stark Marked gene: IQSEC1 as ready
Intellectual disability syndromic and non-syndromic v0.1615 IQSEC1 Zornitza Stark Gene: iqsec1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1615 IQSEC1 Zornitza Stark Classified gene: IQSEC1 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1615 IQSEC1 Zornitza Stark Gene: iqsec1 has been classified as Green List (High Evidence).
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 v0.1613 POLA1 Alison Yeung Marked gene: POLA1 as ready
Intellectual disability syndromic and non-syndromic v0.1613 POLA1 Alison Yeung Gene: pola1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1613 POLA1 Alison Yeung Classified gene: POLA1 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1613 POLA1 Alison Yeung Gene: pola1 has been classified as Green List (High Evidence).
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 v0.1611 GPC4 Alison Yeung Marked gene: GPC4 as ready
Intellectual disability syndromic and non-syndromic v0.1611 GPC4 Alison Yeung Gene: gpc4 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1611 GPC4 Alison Yeung Classified gene: GPC4 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1611 GPC4 Alison Yeung Gene: gpc4 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1610 GPC4 Alison Yeung Classified gene: GPC4 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1610 GPC4 Alison Yeung Gene: gpc4 has been classified as Green List (High Evidence).
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 v0.1608 CARS Alison Yeung Marked gene: CARS as ready
Intellectual disability syndromic and non-syndromic v0.1608 CARS Alison Yeung Gene: cars has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1608 CARS Alison Yeung Classified gene: CARS as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1608 CARS Alison Yeung Gene: cars has been classified as Green List (High Evidence).
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 v0.1606 MAPK8IP3 Zornitza Stark Marked gene: MAPK8IP3 as ready
Intellectual disability syndromic and non-syndromic v0.1606 MAPK8IP3 Zornitza Stark Gene: mapk8ip3 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1606 MAPK8IP3 Zornitza Stark Classified gene: MAPK8IP3 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1606 MAPK8IP3 Zornitza Stark Gene: mapk8ip3 has been classified as Green List (High Evidence).
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 v0.1604 NCAPG2 Alison Yeung Marked gene: NCAPG2 as ready
Intellectual disability syndromic and non-syndromic v0.1604 NCAPG2 Alison Yeung Gene: ncapg2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1604 NCAPG2 Alison Yeung Classified gene: NCAPG2 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1604 NCAPG2 Alison Yeung Gene: ncapg2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1603 NCAPG2 Alison Yeung Classified gene: NCAPG2 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1603 NCAPG2 Alison Yeung Gene: ncapg2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1602 NCAPG2 Alison Yeung gene: NCAPG2 was added
gene: NCAPG2 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: NCAPG2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NCAPG2 were set to 30609410
Phenotypes for gene: NCAPG2 were set to Khan-Khan-Katsanis syndrome, MIM# 618460
Review for gene: NCAPG2 was set to GREEN
Added comment: Two families and functional evidence (zebrafish model).
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1601 RIC1 Zornitza Stark Marked gene: RIC1 as ready
Intellectual disability syndromic and non-syndromic v0.1601 RIC1 Zornitza Stark Gene: ric1 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1601 RIC1 Zornitza Stark Classified gene: RIC1 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.1601 RIC1 Zornitza Stark Gene: ric1 has been classified as Amber List (Moderate Evidence).
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 v0.1599 TET3 Zornitza Stark Marked gene: TET3 as ready
Intellectual disability syndromic and non-syndromic v0.1599 TET3 Zornitza Stark Gene: tet3 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1599 TET3 Zornitza Stark Classified gene: TET3 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1599 TET3 Zornitza Stark Gene: tet3 has been classified as Green List (High Evidence).
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 v0.1596 Sebastian Lunke Panel name changed from Intellectual disability, syndromic and non-syndromic to Intellectual disability syndromic and non-syndromic
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 v0.1593 HK1 Natasha Brown Classified gene: HK1 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1593 HK1 Natasha Brown Gene: hk1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1592 HK1 Natasha Brown Marked gene: HK1 as ready
Intellectual disability syndromic and non-syndromic v0.1592 HK1 Natasha Brown Gene: hk1 has been classified as Red List (Low Evidence).
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 Marked gene: SNORD118 as ready
Intellectual disability syndromic and non-syndromic v0.1591 SNORD118 Zornitza Stark Gene: snord118 has been classified as Green List (High Evidence).
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 v0.1590 SNORD118 Zornitza Stark Publications for gene: SNORD118 were set to
Intellectual disability syndromic and non-syndromic v0.1589 SNORD118 Zornitza Stark Mode of inheritance for gene: SNORD118 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1588 FARSB Zornitza Stark Marked gene: FARSB as ready
Intellectual disability syndromic and non-syndromic v0.1588 FARSB Zornitza Stark Gene: farsb has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1588 FARSB Zornitza Stark Classified gene: FARSB as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1588 FARSB Zornitza Stark Gene: farsb has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1587 FARSB Zornitza Stark gene: FARSB was added
gene: FARSB was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Expert list
Mode of inheritance for gene: FARSB was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FARSB were set to 29573043; 19161147; 29979980; 30014610
Phenotypes for gene: FARSB were set to Rajab syndrome, MIM#613658; interstitial lung disease; brain calcifications; microcephaly; intellectual disability
Review for gene: FARSB was set to GREEN
Added comment: 7 unrelated families reported.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.1586 FAM160B1 Zornitza Stark Marked gene: FAM160B1 as ready
Intellectual disability syndromic and non-syndromic v0.1586 FAM160B1 Zornitza Stark Gene: fam160b1 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1586 CLCNKB Zornitza Stark Marked gene: CLCNKB as ready
Intellectual disability syndromic and non-syndromic v0.1586 CLCNKB Zornitza Stark Gene: clcnkb has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1586 CLCNKB Zornitza Stark Phenotypes for gene: CLCNKB were changed from Bartter syndrome, type 3, MIM#607364; Bartter syndrome, type 4b, digenic, MIM#613090 to Bartter syndrome, type 3, MIM#607364; Bartter syndrome, type 4b, digenic, MIM#613090
Intellectual disability syndromic and non-syndromic v0.1585 CLCNKB Zornitza Stark Phenotypes for gene: CLCNKB were changed from to Bartter syndrome, type 3, MIM#607364; Bartter syndrome, type 4b, digenic, MIM#613090
Intellectual disability syndromic and non-syndromic v0.1584 AP1B1 Zornitza Stark Marked gene: AP1B1 as ready
Intellectual disability syndromic and non-syndromic v0.1584 AP1B1 Zornitza Stark Gene: ap1b1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1584 CLCNKA Zornitza Stark Marked gene: CLCNKA as ready
Intellectual disability syndromic and non-syndromic v0.1584 CLCNKA Zornitza Stark Gene: clcnka has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1584 CLCNKB Zornitza Stark Publications for gene: CLCNKB were set to
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 v0.1582 CLCNKA Zornitza Stark Phenotypes for gene: CLCNKA were changed from to Bartter syndrome, type 4b, digenic, MIM#613090
Intellectual disability syndromic and non-syndromic v0.1582 COASY Zornitza Stark Marked gene: COASY as ready
Intellectual disability syndromic and non-syndromic v0.1582 COASY Zornitza Stark Gene: coasy has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1582 CLCNKA Zornitza Stark Publications for gene: CLCNKA were set to
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 v0.1580 COG6 Zornitza Stark Phenotypes for gene: COG6 were changed from Congenital disorder of glycosylation, type Iil, MIM#614576 to Congenital disorder of glycosylation, type Iil, MIM#614576
Intellectual disability syndromic and non-syndromic v0.1579 COG6 Zornitza Stark Marked gene: COG6 as ready
Intellectual disability syndromic and non-syndromic v0.1579 COG6 Zornitza Stark Gene: cog6 has been classified as Green List (High Evidence).
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 v0.1579 COASY Zornitza Stark Publications for gene: COASY were set to 24360804; 30089828
Intellectual disability syndromic and non-syndromic v0.1579 COG6 Zornitza Stark Phenotypes for gene: COG6 were changed from to Congenital disorder of glycosylation, type Iil, MIM#614576
Intellectual disability syndromic and non-syndromic v0.1578 COASY Zornitza Stark Publications for gene: COASY were set to
Intellectual disability syndromic and non-syndromic v0.1578 COASY Zornitza Stark Mode of inheritance for gene: COASY was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1577 COG6 Zornitza Stark Mode of inheritance for gene: COG6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1576 COQ9 Zornitza Stark Marked gene: COQ9 as ready
Intellectual disability syndromic and non-syndromic v0.1576 COQ9 Zornitza Stark Gene: coq9 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1576 COQ9 Zornitza Stark Phenotypes for gene: COQ9 were changed from to Coenzyme Q10 deficiency, primary, 5, MIM#614654
Intellectual disability syndromic and non-syndromic v0.1575 COQ9 Zornitza Stark Mode of inheritance for gene: COQ9 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1574 ETFA Zornitza Stark Marked gene: ETFA as ready
Intellectual disability syndromic and non-syndromic v0.1574 ETFA Zornitza Stark Gene: etfa has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1574 ETFDH Zornitza Stark Marked gene: ETFDH as ready
Intellectual disability syndromic and non-syndromic v0.1574 ETFDH Zornitza Stark Gene: etfdh has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1574 FARS2 Zornitza Stark Marked gene: FARS2 as ready
Intellectual disability syndromic and non-syndromic v0.1574 FARS2 Zornitza Stark Gene: fars2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1574 MAP1B Zornitza Stark Marked gene: MAP1B as ready
Intellectual disability syndromic and non-syndromic v0.1574 MAP1B Zornitza Stark Gene: map1b has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1574 KLF7 Zornitza Stark Marked gene: KLF7 as ready
Intellectual disability syndromic and non-syndromic v0.1574 KLF7 Zornitza Stark Gene: klf7 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1574 MAP1B Zornitza Stark Phenotypes for gene: MAP1B were changed from to Intellectual disability; seizures; PVNH; dysmorphic features
Intellectual disability syndromic and non-syndromic v0.1573 MAP1B Zornitza Stark Publications for gene: MAP1B were set to
Intellectual disability syndromic and non-syndromic v0.1572 MAP1B Zornitza Stark Mode of inheritance for gene: MAP1B was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1571 MED17 Zornitza Stark Marked gene: MED17 as ready
Intellectual disability syndromic and non-syndromic v0.1571 MED17 Zornitza Stark Gene: med17 has been classified as Green List (High Evidence).
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 v0.1570 MED17 Zornitza Stark Publications for gene: MED17 were set to
Intellectual disability syndromic and non-syndromic v0.1569 MED17 Zornitza Stark Mode of inheritance for gene: MED17 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1568 METTL5 Zornitza Stark Marked gene: METTL5 as ready
Intellectual disability syndromic and non-syndromic v0.1568 METTL5 Zornitza Stark Gene: mettl5 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1568 MPDZ Zornitza Stark Marked gene: MPDZ as ready
Intellectual disability syndromic and non-syndromic v0.1568 MPDZ Zornitza Stark Gene: mpdz has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1568 NDUFA2 Zornitza Stark Marked gene: NDUFA2 as ready
Intellectual disability syndromic and non-syndromic v0.1568 NDUFA2 Zornitza Stark Gene: ndufa2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1568 MPV17 Zornitza Stark Marked gene: MPV17 as ready
Intellectual disability syndromic and non-syndromic v0.1568 MPV17 Zornitza Stark Gene: mpv17 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1568 NDUFA2 Zornitza Stark Phenotypes for gene: NDUFA2 were changed from to Mitochondrial complex I deficiency, nuclear type 13, MIM#618235
Intellectual disability syndromic and non-syndromic v0.1567 MTO1 Zornitza Stark Marked gene: MTO1 as ready
Intellectual disability syndromic and non-syndromic v0.1567 MTO1 Zornitza Stark Gene: mto1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1567 NDUFA2 Zornitza Stark Publications for gene: NDUFA2 were set to 18513682; 28857146
Intellectual disability syndromic and non-syndromic v0.1567 NDUFA2 Zornitza Stark Publications for gene: NDUFA2 were set to
Intellectual disability syndromic and non-syndromic v0.1566 NDUFAF1 Zornitza Stark Marked gene: NDUFAF1 as ready
Intellectual disability syndromic and non-syndromic v0.1566 NDUFAF1 Zornitza Stark Gene: ndufaf1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1566 NDUFA2 Zornitza Stark Mode of inheritance for gene: NDUFA2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1566 NDUFAF1 Zornitza Stark Phenotypes for gene: NDUFAF1 were changed from to Mitochondrial complex I deficiency, nuclear type 11, MIM#618234
Intellectual disability syndromic and non-syndromic v0.1565 NDUFAF1 Zornitza Stark Publications for gene: NDUFAF1 were set to
Intellectual disability syndromic and non-syndromic v0.1564 NDUFAF1 Zornitza Stark Mode of inheritance for gene: NDUFAF1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1563 PIGG Zornitza Stark Marked gene: PIGG as ready
Intellectual disability syndromic and non-syndromic v0.1563 PIGG Zornitza Stark Gene: pigg has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1563 PIGG Zornitza Stark Phenotypes for gene: PIGG were changed from Mental retardation, autosomal recessive 53, MIM#616917 to Mental retardation, autosomal recessive 53, MIM#616917
Intellectual disability syndromic and non-syndromic v0.1562 PIGG Zornitza Stark Phenotypes for gene: PIGG were changed from to Mental retardation, autosomal recessive 53, MIM#616917
Intellectual disability syndromic and non-syndromic v0.1561 PIGG Zornitza Stark Publications for gene: PIGG were set to 26996948
Intellectual disability syndromic and non-syndromic v0.1560 PIGG Zornitza Stark Mode of inheritance for gene: PIGG was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1559 PIGG Zornitza Stark Publications for gene: PIGG were set to
Intellectual disability syndromic and non-syndromic v0.1559 PIGG Zornitza Stark Mode of inheritance for gene: PIGG was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1558 PPP2CA Zornitza Stark Marked gene: PPP2CA as ready
Intellectual disability syndromic and non-syndromic v0.1558 PPP2CA Zornitza Stark Gene: ppp2ca has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1558 PRKAR1A Zornitza Stark Marked gene: PRKAR1A as ready
Intellectual disability syndromic and non-syndromic v0.1558 PRKAR1A Zornitza Stark Gene: prkar1a has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1558 RTN4IP1 Zornitza Stark Marked gene: RTN4IP1 as ready
Intellectual disability syndromic and non-syndromic v0.1558 RTN4IP1 Zornitza Stark Gene: rtn4ip1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1558 SCAPER Zornitza Stark Marked gene: SCAPER as ready
Intellectual disability syndromic and non-syndromic v0.1558 SCAPER Zornitza Stark Gene: scaper has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1558 SCN9A Zornitza Stark Marked gene: SCN9A as ready
Intellectual disability syndromic and non-syndromic v0.1558 SCN9A Zornitza Stark Gene: scn9a has been classified as Red List (Low Evidence).
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 v0.1556 SCN9A Zornitza Stark Classified gene: SCN9A as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.1556 SCN9A Zornitza Stark Gene: scn9a has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1555 SEMA3E Zornitza Stark Marked gene: SEMA3E as ready
Intellectual disability syndromic and non-syndromic v0.1555 SEMA3E Zornitza Stark Gene: sema3e has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1555 SEMA3E Zornitza Stark Phenotypes for gene: SEMA3E were changed from CHARGE syndrome, MIM#214800 to CHARGE syndrome, MIM#214800
Intellectual disability syndromic and non-syndromic v0.1554 SEMA3E Zornitza Stark Phenotypes for gene: SEMA3E were changed from to CHARGE syndrome, MIM#214800
Intellectual disability syndromic and non-syndromic v0.1554 SEMA3E Zornitza Stark Publications for gene: SEMA3E were set to 15235037; 31691538; 31464029
Intellectual disability syndromic and non-syndromic v0.1553 SEMA3E Zornitza Stark Publications for gene: SEMA3E were set to
Intellectual disability syndromic and non-syndromic v0.1553 SEMA3E Zornitza Stark Mode of inheritance for gene: SEMA3E was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1552 SMPD4 Zornitza Stark Marked gene: SMPD4 as ready
Intellectual disability syndromic and non-syndromic v0.1552 SMPD4 Zornitza Stark Gene: smpd4 has been classified as Green List (High Evidence).
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 v0.1550 SMPD4 Zornitza Stark Publications for gene: SMPD4 were set to
Intellectual disability syndromic and non-syndromic v0.1549 SMPD4 Zornitza Stark Mode of inheritance for gene: SMPD4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1548 SNAP25 Zornitza Stark Marked gene: SNAP25 as ready
Intellectual disability syndromic and non-syndromic v0.1548 SNAP25 Zornitza Stark Gene: snap25 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1548 SOX4 Zornitza Stark Marked gene: SOX4 as ready
Intellectual disability syndromic and non-syndromic v0.1548 SOX4 Zornitza Stark Gene: sox4 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1548 SPART Zornitza Stark Marked gene: SPART as ready
Intellectual disability syndromic and non-syndromic v0.1548 SPART Zornitza Stark Gene: spart has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1548 SPG7 Zornitza Stark Marked gene: SPG7 as ready
Intellectual disability syndromic and non-syndromic v0.1548 SPG7 Zornitza Stark Gene: spg7 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1548 ST3GAL5 Zornitza Stark Marked gene: ST3GAL5 as ready
Intellectual disability syndromic and non-syndromic v0.1548 ST3GAL5 Zornitza Stark Gene: st3gal5 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1548 SUCLA2 Zornitza Stark Marked gene: SUCLA2 as ready
Intellectual disability syndromic and non-syndromic v0.1548 SUCLA2 Zornitza Stark Gene: sucla2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1548 SUMF1 Zornitza Stark Marked gene: SUMF1 as ready
Intellectual disability syndromic and non-syndromic v0.1548 SUMF1 Zornitza Stark Gene: sumf1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1548 SUZ12 Zornitza Stark Marked gene: SUZ12 as ready
Intellectual disability syndromic and non-syndromic v0.1548 SUZ12 Zornitza Stark Gene: suz12 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1548 SVBP Zornitza Stark Marked gene: SVBP as ready
Intellectual disability syndromic and non-syndromic v0.1548 SVBP Zornitza Stark Gene: svbp has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1548 SYT1 Zornitza Stark Marked gene: SYT1 as ready
Intellectual disability syndromic and non-syndromic v0.1548 SYT1 Zornitza Stark Gene: syt1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1548 TBC1D20 Zornitza Stark Marked gene: TBC1D20 as ready
Intellectual disability syndromic and non-syndromic v0.1548 TBC1D20 Zornitza Stark Gene: tbc1d20 has been classified as Green List (High Evidence).
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 Marked gene: TBCD as ready
Intellectual disability syndromic and non-syndromic v0.1548 TBCD Zornitza Stark Gene: tbcd has been classified as Green List (High Evidence).
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 v0.1547 TBCD Zornitza Stark Publications for gene: TBCD were set to
Intellectual disability syndromic and non-syndromic v0.1546 TBCD Zornitza Stark Mode of inheritance for gene: TBCD was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1545 TDP2 Zornitza Stark Marked gene: TDP2 as ready
Intellectual disability syndromic and non-syndromic v0.1545 TDP2 Zornitza Stark Gene: tdp2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1545 TERT Zornitza Stark Marked gene: TERT as ready
Intellectual disability syndromic and non-syndromic v0.1545 TERT Zornitza Stark Gene: tert has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1545 TKT Zornitza Stark Marked gene: TKT as ready
Intellectual disability syndromic and non-syndromic v0.1545 TKT Zornitza Stark Gene: tkt has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1545 TPP1 Zornitza Stark Marked gene: TPP1 as ready
Intellectual disability syndromic and non-syndromic v0.1545 TPP1 Zornitza Stark Gene: tpp1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1545 TRAF7 Zornitza Stark Marked gene: TRAF7 as ready
Intellectual disability syndromic and non-syndromic v0.1545 TRAF7 Zornitza Stark Gene: traf7 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1545 TRAPPC11 Zornitza Stark Marked gene: TRAPPC11 as ready
Intellectual disability syndromic and non-syndromic v0.1545 TRAPPC11 Zornitza Stark Gene: trappc11 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1545 TRMT1 Zornitza Stark Marked gene: TRMT1 as ready
Intellectual disability syndromic and non-syndromic v0.1545 TRMT1 Zornitza Stark Gene: trmt1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1545 TRNT1 Zornitza Stark Marked gene: TRNT1 as ready
Intellectual disability syndromic and non-syndromic v0.1545 TRNT1 Zornitza Stark Gene: trnt1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1545 TRRAP Zornitza Stark Marked gene: TRRAP as ready
Intellectual disability syndromic and non-syndromic v0.1545 TRRAP Zornitza Stark Gene: trrap has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1545 UFM1 Zornitza Stark Marked gene: UFM1 as ready
Intellectual disability syndromic and non-syndromic v0.1545 UFM1 Zornitza Stark Gene: ufm1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1545 VARS2 Zornitza Stark Marked gene: VARS2 as ready
Intellectual disability syndromic and non-syndromic v0.1545 VARS2 Zornitza Stark Gene: vars2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1545 VIPAS39 Zornitza Stark Marked gene: VIPAS39 as ready
Intellectual disability syndromic and non-syndromic v0.1545 VIPAS39 Zornitza Stark Gene: vipas39 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1545 VPS33B Zornitza Stark Marked gene: VPS33B as ready
Intellectual disability syndromic and non-syndromic v0.1545 VPS33B Zornitza Stark Gene: vps33b has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1545 VPS37A Zornitza Stark Marked gene: VPS37A as ready
Intellectual disability syndromic and non-syndromic v0.1545 VPS37A Zornitza Stark Gene: vps37a has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1545 WDR37 Zornitza Stark Marked gene: WDR37 as ready
Intellectual disability syndromic and non-syndromic v0.1545 WDR37 Zornitza Stark Gene: wdr37 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1545 WNT1 Zornitza Stark Marked gene: WNT1 as ready
Intellectual disability syndromic and non-syndromic v0.1545 WNT1 Zornitza Stark Gene: wnt1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1545 WNT5A Zornitza Stark Marked gene: WNT5A as ready
Intellectual disability syndromic and non-syndromic v0.1545 WNT5A Zornitza Stark Gene: wnt5a has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1545 XPA Zornitza Stark Marked gene: XPA as ready
Intellectual disability syndromic and non-syndromic v0.1545 XPA Zornitza Stark Gene: xpa has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1545 XYLT1 Zornitza Stark Marked gene: XYLT1 as ready
Intellectual disability syndromic and non-syndromic v0.1545 XYLT1 Zornitza Stark Gene: xylt1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1545 ZNF335 Zornitza Stark Marked gene: ZNF335 as ready
Intellectual disability syndromic and non-syndromic v0.1545 ZNF335 Zornitza Stark Gene: znf335 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1545 ZSWIM6 Zornitza Stark Marked gene: ZSWIM6 as ready
Intellectual disability syndromic and non-syndromic v0.1545 ZSWIM6 Zornitza Stark Gene: zswim6 has been classified as Green List (High Evidence).
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 v0.1544 ZSWIM6 Zornitza Stark Publications for gene: ZSWIM6 were set to
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 v0.1542 ZSWIM6 Zornitza Stark Mode of inheritance for gene: ZSWIM6 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1541 MAGT1 Zornitza Stark Marked gene: MAGT1 as ready
Intellectual disability syndromic and non-syndromic v0.1541 MAGT1 Zornitza Stark Gene: magt1 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1541 MRPL3 Zornitza Stark Marked gene: MRPL3 as ready
Intellectual disability syndromic and non-syndromic v0.1541 MRPL3 Zornitza Stark Gene: mrpl3 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1541 NDUFB9 Zornitza Stark Marked gene: NDUFB9 as ready
Intellectual disability syndromic and non-syndromic v0.1541 NDUFB9 Zornitza Stark Gene: ndufb9 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1541 NDUFB9 Zornitza Stark Mode of inheritance for gene: NDUFB9 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1540 SLC35A3 Zornitza Stark Marked gene: SLC35A3 as ready
Intellectual disability syndromic and non-syndromic v0.1540 SLC35A3 Zornitza Stark Gene: slc35a3 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1540 SLC9A7 Zornitza Stark Marked gene: SLC9A7 as ready
Intellectual disability syndromic and non-syndromic v0.1540 SLC9A7 Zornitza Stark Gene: slc9a7 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1540 SNRPN Zornitza Stark Marked gene: SNRPN as ready
Intellectual disability syndromic and non-syndromic v0.1540 SNRPN Zornitza Stark Gene: snrpn has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1540 SNRPN Zornitza Stark Tag SV/CNV tag was added to gene: SNRPN.
Intellectual disability syndromic and non-syndromic v0.1540 TACO1 Zornitza Stark Marked gene: TACO1 as ready
Intellectual disability syndromic and non-syndromic v0.1540 TACO1 Zornitza Stark Gene: taco1 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1540 TCTN3 Zornitza Stark Marked gene: TCTN3 as ready
Intellectual disability syndromic and non-syndromic v0.1540 TCTN3 Zornitza Stark Gene: tctn3 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1540 TCTN3 Zornitza Stark Classified gene: TCTN3 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1540 TCTN3 Zornitza Stark Gene: tctn3 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1539 TMEM231 Zornitza Stark Marked gene: TMEM231 as ready
Intellectual disability syndromic and non-syndromic v0.1539 TMEM231 Zornitza Stark Gene: tmem231 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1539 TUFM Zornitza Stark Marked gene: TUFM as ready
Intellectual disability syndromic and non-syndromic v0.1539 TUFM Zornitza Stark Gene: tufm has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1539 UQCC2 Zornitza Stark Marked gene: UQCC2 as ready
Intellectual disability syndromic and non-syndromic v0.1539 UQCC2 Zornitza Stark Gene: uqcc2 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1539 ZC3H14 Zornitza Stark Marked gene: ZC3H14 as ready
Intellectual disability syndromic and non-syndromic v0.1539 ZC3H14 Zornitza Stark Gene: zc3h14 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1539 ATP6AP1 Zornitza Stark Marked gene: ATP6AP1 as ready
Intellectual disability syndromic and non-syndromic v0.1539 ATP6AP1 Zornitza Stark Gene: atp6ap1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1539 ATP6AP1 Zornitza Stark Classified gene: ATP6AP1 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1539 ATP6AP1 Zornitza Stark Gene: atp6ap1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1538 EIF2B5 Zornitza Stark Marked gene: EIF2B5 as ready
Intellectual disability syndromic and non-syndromic v0.1538 EIF2B5 Zornitza Stark Gene: eif2b5 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1538 IGF2 Zornitza Stark Marked gene: IGF2 as ready
Intellectual disability syndromic and non-syndromic v0.1538 IGF2 Zornitza Stark Gene: igf2 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1538 KLLN Zornitza Stark Marked gene: KLLN as ready
Intellectual disability syndromic and non-syndromic v0.1538 KLLN Zornitza Stark Gene: klln has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1538 LSM1 Zornitza Stark Marked gene: LSM1 as ready
Intellectual disability syndromic and non-syndromic v0.1538 LSM1 Zornitza Stark Gene: lsm1 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1538 MACROD2 Zornitza Stark Marked gene: MACROD2 as ready
Intellectual disability syndromic and non-syndromic v0.1538 MACROD2 Zornitza Stark Gene: macrod2 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1538 MCM4 Zornitza Stark Marked gene: MCM4 as ready
Intellectual disability syndromic and non-syndromic v0.1538 MCM4 Zornitza Stark Gene: mcm4 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1538 MET Zornitza Stark Marked gene: MET as ready
Intellectual disability syndromic and non-syndromic v0.1538 MET Zornitza Stark Gene: met has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1538 MFN2 Zornitza Stark Marked gene: MFN2 as ready
Intellectual disability syndromic and non-syndromic v0.1538 MFN2 Zornitza Stark Gene: mfn2 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1538 MGME1 Zornitza Stark Marked gene: MGME1 as ready
Intellectual disability syndromic and non-syndromic v0.1538 MGME1 Zornitza Stark Gene: mgme1 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1538 MGP Zornitza Stark Marked gene: MGP as ready
Intellectual disability syndromic and non-syndromic v0.1538 MGP Zornitza Stark Gene: mgp has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1538 MID2 Zornitza Stark Marked gene: MID2 as ready
Intellectual disability syndromic and non-syndromic v0.1538 MID2 Zornitza Stark Gene: mid2 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1538 MLH1 Zornitza Stark Marked gene: MLH1 as ready
Intellectual disability syndromic and non-syndromic v0.1538 MLH1 Zornitza Stark Gene: mlh1 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1538 MNX1 Zornitza Stark Marked gene: MNX1 as ready
Intellectual disability syndromic and non-syndromic v0.1538 MNX1 Zornitza Stark Gene: mnx1 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1538 MPZ Zornitza Stark Marked gene: MPZ as ready
Intellectual disability syndromic and non-syndromic v0.1538 MPZ Zornitza Stark Gene: mpz has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1538 MRAP Zornitza Stark Marked gene: MRAP as ready
Intellectual disability syndromic and non-syndromic v0.1538 MRAP Zornitza Stark Gene: mrap has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1538 AGMO Zornitza Stark Marked gene: AGMO as ready
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 v0.1538 AGMO Zornitza Stark Gene: agmo has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1538 AGMO Zornitza Stark Publications for gene: AGMO were set to 31555905
Intellectual disability syndromic and non-syndromic v0.1537 AGMO Sue White Marked gene: AGMO as ready
Intellectual disability syndromic and non-syndromic v0.1537 AGMO Sue White Gene: agmo has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1537 AGMO Sue White Classified gene: AGMO as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1537 AGMO Sue White Gene: agmo has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1536 AGMO Sue White gene: AGMO was added
gene: AGMO was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
Mode of inheritance for gene: AGMO was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AGMO were set to 31555905
Phenotypes for gene: AGMO were set to microcephaly; intellectual disability; epilepsy
Penetrance for gene: AGMO were set to Complete
Review for gene: AGMO was set to GREEN
Added comment: biallelic missense and LOF variants reported
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1535 STAG2 Zornitza Stark Marked gene: STAG2 as ready
Intellectual disability syndromic and non-syndromic v0.1535 STAG2 Zornitza Stark Gene: stag2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1535 STAG2 Zornitza Stark Phenotypes for gene: STAG2 were changed from to Mullegama-Klein-Martinez syndrome, MIM#301022
Intellectual disability syndromic and non-syndromic v0.1534 STAG2 Zornitza Stark Classified gene: STAG2 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1534 STAG2 Zornitza Stark Gene: stag2 has been classified as Green List (High Evidence).
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 Marked gene: FOXP1 as ready
Intellectual disability syndromic and non-syndromic v0.1533 FOXP1 Zornitza Stark Gene: foxp1 has been classified as Green List (High Evidence).
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 v0.1532 FOXP1 Zornitza Stark Publications for gene: FOXP1 were set to
Intellectual disability syndromic and non-syndromic v0.1531 FOXP1 Zornitza Stark Mode of inheritance for gene: FOXP1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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 Marked gene: NUP214 as ready
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 v0.1530 NUP214 Zornitza Stark Gene: nup214 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1530 NUP214 Zornitza Stark Publications for gene: NUP214 were set to 31178128
Intellectual disability syndromic and non-syndromic v0.1529 EXTL3 Zornitza Stark Marked gene: EXTL3 as ready
Intellectual disability syndromic and non-syndromic v0.1529 EXTL3 Zornitza Stark Gene: extl3 has been classified as Green List (High Evidence).
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 v0.1528 EXTL3 Zornitza Stark Publications for gene: EXTL3 were set to
Intellectual disability syndromic and non-syndromic v0.1527 EXTL3 Zornitza Stark Mode of inheritance for gene: EXTL3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
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 v0.1525 NUP214 Sue White Marked gene: NUP214 as ready
Intellectual disability syndromic and non-syndromic v0.1525 NUP214 Sue White Gene: nup214 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1525 NUP214 Sue White Classified gene: NUP214 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1525 NUP214 Sue White Gene: nup214 has been classified as Green List (High Evidence).
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 v0.1523 AP2M1 Zornitza Stark Marked gene: AP2M1 as ready
Intellectual disability syndromic and non-syndromic v0.1523 AP2M1 Zornitza Stark Gene: ap2m1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1523 AP2M1 Zornitza Stark Classified gene: AP2M1 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1523 AP2M1 Zornitza Stark Gene: ap2m1 has been classified as Green List (High Evidence).
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 v0.1521 ALKBH8 Zornitza Stark Classified gene: ALKBH8 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.1521 ALKBH8 Zornitza Stark Gene: alkbh8 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1520 ASXL3 Zornitza Stark Marked gene: ASXL3 as ready
Intellectual disability syndromic and non-syndromic v0.1520 ASXL3 Zornitza Stark Gene: asxl3 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1520 ASXL3 Zornitza Stark Phenotypes for gene: ASXL3 were changed from to Bainbridge-Ropers syndrome (OMIM # 615485)
Intellectual disability syndromic and non-syndromic v0.1519 ASXL3 Zornitza Stark Publications for gene: ASXL3 were set to
Intellectual disability syndromic and non-syndromic v0.1518 ASXL3 Zornitza Stark Mode of inheritance for gene: ASXL3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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 v0.1517 WDFY3 Zornitza Stark Marked gene: WDFY3 as ready
Intellectual disability syndromic and non-syndromic v0.1517 WDFY3 Zornitza Stark Gene: wdfy3 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1517 WDFY3 Zornitza Stark Phenotypes for gene: WDFY3 were changed from to Microcephaly 18, primary, autosomal dominant, MIM#617520
Intellectual disability syndromic and non-syndromic v0.1516 WDFY3 Zornitza Stark Publications for gene: WDFY3 were set to
Intellectual disability syndromic and non-syndromic v0.1515 WDFY3 Zornitza Stark Mode of inheritance for gene: WDFY3 was changed from Unknown to 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 Marked gene: DNMT3A as ready
Intellectual disability syndromic and non-syndromic v0.1513 DNMT3A Zornitza Stark Gene: dnmt3a has been classified as Green List (High Evidence).
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 v0.1512 DNMT3A Zornitza Stark Publications for gene: DNMT3A were set to
Intellectual disability syndromic and non-syndromic v0.1511 DNMT3A Zornitza Stark Mode of inheritance for gene: DNMT3A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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 v0.1510 SETD5 Zornitza Stark Marked gene: SETD5 as ready
Intellectual disability syndromic and non-syndromic v0.1510 SETD5 Zornitza Stark Gene: setd5 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1510 SETD5 Zornitza Stark Phenotypes for gene: SETD5 were changed from to Intellectual disability, autosomal dominant 23 (MIM # 615761)
Intellectual disability syndromic and non-syndromic v0.1509 SETD5 Zornitza Stark Publications for gene: SETD5 were set to
Intellectual disability syndromic and non-syndromic v0.1508 SETD5 Zornitza Stark Mode of inheritance for gene: SETD5 was changed from Unknown to 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 v0.1507 FZD3 Zornitza Stark Marked gene: FZD3 as ready
Intellectual disability syndromic and non-syndromic v0.1507 FZD3 Zornitza Stark Gene: fzd3 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1507 FZD3 Zornitza Stark Classified gene: FZD3 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.1507 FZD3 Zornitza Stark Gene: fzd3 has been classified as Red List (Low Evidence).
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 v0.1506 H3F3A Zornitza Stark Marked gene: H3F3A as ready
Intellectual disability syndromic and non-syndromic v0.1506 H3F3A Zornitza Stark Gene: h3f3a has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1506 H3F3A Zornitza Stark Classified gene: H3F3A as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.1506 H3F3A Zornitza Stark Gene: h3f3a has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1505 H3F3B Zornitza Stark Classified gene: H3F3B as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.1505 H3F3B Zornitza Stark Gene: h3f3b has been classified as Amber List (Moderate Evidence).
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 v0.1504 H3F3A Zornitza Stark commented on gene: H3F3A
Intellectual disability syndromic and non-syndromic v0.1504 KAT5 Zornitza Stark Marked gene: KAT5 as ready
Intellectual disability syndromic and non-syndromic v0.1504 KAT5 Zornitza Stark Added comment: Comment when marking as ready: Cannot find evidence for Mendelian gene-disease association.
Intellectual disability syndromic and non-syndromic v0.1504 KAT5 Zornitza Stark Gene: kat5 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1504 KAT5 Zornitza Stark Classified gene: KAT5 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.1504 KAT5 Zornitza Stark Gene: kat5 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1503 MRPS16 Zornitza Stark Marked gene: MRPS16 as ready
Intellectual disability syndromic and non-syndromic v0.1503 MRPS16 Zornitza Stark Gene: mrps16 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1503 MSH6 Zornitza Stark Marked gene: MSH6 as ready
Intellectual disability syndromic and non-syndromic v0.1503 MSH6 Zornitza Stark Gene: msh6 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1503 MTM1 Zornitza Stark Marked gene: MTM1 as ready
Intellectual disability syndromic and non-syndromic v0.1503 MTM1 Zornitza Stark Gene: mtm1 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1503 MTMR2 Zornitza Stark Marked gene: MTMR2 as ready
Intellectual disability syndromic and non-syndromic v0.1503 MTMR2 Zornitza Stark Gene: mtmr2 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1503 MTPAP Zornitza Stark Marked gene: MTPAP as ready
Intellectual disability syndromic and non-syndromic v0.1503 MTPAP Zornitza Stark Gene: mtpap has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1503 MYH3 Zornitza Stark Marked gene: MYH3 as ready
Intellectual disability syndromic and non-syndromic v0.1503 MYH3 Zornitza Stark Gene: myh3 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1503 MYMK Zornitza Stark Marked gene: MYMK as ready
Intellectual disability syndromic and non-syndromic v0.1503 MYMK Zornitza Stark Gene: mymk has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1503 MYO7A Zornitza Stark Marked gene: MYO7A as ready
Intellectual disability syndromic and non-syndromic v0.1503 MYO7A Zornitza Stark Gene: myo7a has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1503 ORC4 Zornitza Stark Marked gene: ORC4 as ready
Intellectual disability syndromic and non-syndromic v0.1503 ORC4 Zornitza Stark Gene: orc4 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1503 ORC6 Zornitza Stark Marked gene: ORC6 as ready
Intellectual disability syndromic and non-syndromic v0.1503 ORC6 Zornitza Stark Gene: orc6 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1503 PCBD1 Zornitza Stark Marked gene: PCBD1 as ready
Intellectual disability syndromic and non-syndromic v0.1503 PCBD1 Zornitza Stark Gene: pcbd1 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1503 SLC29A3 Zornitza Stark Marked gene: SLC29A3 as ready
Intellectual disability syndromic and non-syndromic v0.1503 SLC29A3 Zornitza Stark Gene: slc29a3 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1503 SLC2A10 Zornitza Stark Marked gene: SLC2A10 as ready
Intellectual disability syndromic and non-syndromic v0.1503 SLC2A10 Zornitza Stark Gene: slc2a10 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1503 SLC39A4 Zornitza Stark Marked gene: SLC39A4 as ready
Intellectual disability syndromic and non-syndromic v0.1503 SLC39A4 Zornitza Stark Gene: slc39a4 has been classified as Red List (Low Evidence).