PanelApp

Activity

Filter

Cancel
Date Panel Item Activity
3000 actions
Intellectual disability syndromic and non-syndromic v0.1411 USP7 Natasha Brown Marked gene: USP7 as ready
Intellectual disability syndromic and non-syndromic v0.1411 USP7 Natasha Brown Gene: usp7 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1411 USP7 Natasha Brown Classified gene: USP7 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1411 USP7 Natasha Brown Gene: usp7 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1410 USP7 Natasha Brown gene: USP7 was added
gene: USP7 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
Mode of inheritance for gene: USP7 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: USP7 were set to 30679821
Phenotypes for gene: USP7 were set to ID; Autism
Review for gene: USP7 was set to GREEN
Added comment: at least 16 individuals identified and 7 previous cases
Sources: Literature
Mendeliome v0.351 KLHL24 Tiong Tan Marked gene: KLHL24 as ready
Mendeliome v0.351 KLHL24 Tiong Tan Gene: klhl24 has been classified as Green List (High Evidence).
Mendeliome v0.351 KLHL24 Tiong Tan Phenotypes for gene: KLHL24 were changed from Epidermolysis bullosa simplex, generalized, with scarring and hair loss OMIM#617294; dilated cardiomyopathy to Epidermolysis bullosa simplex, generalized, with scarring and hair loss OMIM#617294; dilated cardiomyopathy
Mendeliome v0.350 KLHL24 Tiong Tan Phenotypes for gene: KLHL24 were changed from to Epidermolysis bullosa simplex, generalized, with scarring and hair loss OMIM#617294; dilated cardiomyopathy
Mendeliome v0.349 KLHL24 Tiong Tan Publications for gene: KLHL24 were set to
Mendeliome v0.348 KLHL24 Tiong Tan Mode of inheritance for gene: KLHL24 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.347 KLHL24 Tiong Tan reviewed gene: KLHL24: Rating: GREEN; Mode of pathogenicity: None; Publications: 29779254, 30120936; Phenotypes: Epidermolysis bullosa simplex, generalized, with scarring and hair loss OMIM#617294, dilated cardiomyopathy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Microcephaly v0.44 SEC31A Tiong Tan Marked gene: SEC31A as ready
Microcephaly v0.44 SEC31A Tiong Tan Gene: sec31a has been classified as Amber List (Moderate Evidence).
Microcephaly v0.44 SEC31A Tiong Tan Classified gene: SEC31A as Amber List (moderate evidence)
Microcephaly v0.44 SEC31A Tiong Tan Gene: sec31a has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1409 SEC31A Tiong Tan Marked gene: SEC31A as ready
Intellectual disability syndromic and non-syndromic v0.1409 SEC31A Tiong Tan Gene: sec31a has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1409 SEC31A Tiong Tan Classified gene: SEC31A as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.1409 SEC31A Tiong Tan Gene: sec31a has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1408 SEC31A Tiong Tan gene: SEC31A was added
gene: SEC31A was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
Mode of inheritance for gene: SEC31A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SEC31A were set to 30464055
Phenotypes for gene: SEC31A were set to ?Neurodevelopmental disorder with spastic quadriplegia, optic atrophy, seizures, and structural brain anomalies, OMIM #618651
Review for gene: SEC31A was set to AMBER
Added comment: Single family with two affected sibs with functional data (drosophila)
Sources: Literature
Microcephaly v0.43 SEC31A Tiong Tan gene: SEC31A was added
gene: SEC31A was added to Microcephaly_VCGS. Sources: Literature
Mode of inheritance for gene: SEC31A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SEC31A were set to 30464055
Phenotypes for gene: SEC31A were set to ?Neurodevelopmental disorder with spastic quadriplegia, optic atrophy, seizures, and structural brain anomalies, OMIM #618651
Review for gene: SEC31A was set to AMBER
Added comment: Single family with two affected sibs with functional data (drosophila)
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1407 SLC12A2 Zornitza Stark Marked gene: SLC12A2 as ready
Intellectual disability syndromic and non-syndromic v0.1407 SLC12A2 Zornitza Stark Gene: slc12a2 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1407 SLC12A2 Zornitza Stark Classified gene: SLC12A2 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.1407 SLC12A2 Zornitza Stark Gene: slc12a2 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1406 SLC12A2 Zornitza Stark gene: SLC12A2 was added
gene: SLC12A2 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
Mode of inheritance for gene: SLC12A2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC12A2 were set to 30740830
Phenotypes for gene: SLC12A2 were set to Kilquist syndrome; deafness; intellectual disability; dysmorphic features; absent salivation
Review for gene: SLC12A2 was set to AMBER
Added comment: Single individual with bi-alllelic deletion described; mouse model recapitulated the phenotype.
Sources: Literature
Mendeliome v0.347 SLC12A2 Zornitza Stark Marked gene: SLC12A2 as ready
Mendeliome v0.347 SLC12A2 Zornitza Stark Gene: slc12a2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.347 SLC12A2 Zornitza Stark Classified gene: SLC12A2 as Amber List (moderate evidence)
Mendeliome v0.347 SLC12A2 Zornitza Stark Gene: slc12a2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.346 SLC12A2 Zornitza Stark gene: SLC12A2 was added
gene: SLC12A2 was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: SLC12A2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC12A2 were set to 30740830
Phenotypes for gene: SLC12A2 were set to Kilquist syndrome; deafness; intellectual disability; dysmorphic features; absent salivation
Review for gene: SLC12A2 was set to AMBER
Added comment: Single individual with bi-alllelic deletion described; mouse model recapitulated the phenotype.
Sources: Literature
Deafness_IsolatedAndComplex v0.4 SLC12A2 Zornitza Stark Marked gene: SLC12A2 as ready
Deafness_IsolatedAndComplex v0.4 SLC12A2 Zornitza Stark Gene: slc12a2 has been classified as Amber List (Moderate Evidence).
Deafness_IsolatedAndComplex v0.4 SLC12A2 Zornitza Stark Classified gene: SLC12A2 as Amber List (moderate evidence)
Deafness_IsolatedAndComplex v0.4 SLC12A2 Zornitza Stark Gene: slc12a2 has been classified as Amber List (Moderate Evidence).
Deafness_IsolatedAndComplex v0.3 SLC12A2 Zornitza Stark gene: SLC12A2 was added
gene: SLC12A2 was added to Deafness_MelbourneGenomics_VCGS. Sources: Literature
Mode of inheritance for gene: SLC12A2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC12A2 were set to 30740830
Phenotypes for gene: SLC12A2 were set to Kilquist syndrome; deafness; intellectual disability; dysmorphic features; absent salivation
Review for gene: SLC12A2 was set to AMBER
Added comment: Single individual with bi-alllelic deletion described; mouse model recapitulated the phenotype.
Sources: Literature
Mendeliome v0.345 PANK4 Zornitza Stark Marked gene: PANK4 as ready
Mendeliome v0.345 PANK4 Zornitza Stark Gene: pank4 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.345 PANK4 Zornitza Stark Classified gene: PANK4 as Amber List (moderate evidence)
Mendeliome v0.345 PANK4 Zornitza Stark Gene: pank4 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.344 PANK4 Zornitza Stark gene: PANK4 was added
gene: PANK4 was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: PANK4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PANK4 were set to 30585370
Phenotypes for gene: PANK4 were set to Congenital posterior cataract
Review for gene: PANK4 was set to AMBER
Added comment: Variant segregated with cataract in single 4-generation family, functional data including mouse model.
Sources: Literature
Cataract v0.4 PANK4 Zornitza Stark Marked gene: PANK4 as ready
Cataract v0.4 PANK4 Zornitza Stark Gene: pank4 has been classified as Amber List (Moderate Evidence).
Cataract v0.4 PANK4 Zornitza Stark Classified gene: PANK4 as Amber List (moderate evidence)
Cataract v0.4 PANK4 Zornitza Stark Gene: pank4 has been classified as Amber List (Moderate Evidence).
Cataract v0.3 PANK4 Zornitza Stark gene: PANK4 was added
gene: PANK4 was added to Cataract_VCGS. Sources: Literature
Mode of inheritance for gene: PANK4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PANK4 were set to 30585370
Phenotypes for gene: PANK4 were set to Congenital posterior cataract
Review for gene: PANK4 was set to AMBER
Added comment: Variant segregated with cataract in single 4-generation family, functional data including mouse model.
Sources: Literature
Mendeliome v0.343 CSNK1E Zornitza Stark Marked gene: CSNK1E as ready
Mendeliome v0.343 CSNK1E Zornitza Stark Gene: csnk1e has been classified as Red List (Low Evidence).
Mendeliome v0.343 CSNK1E Zornitza Stark gene: CSNK1E was added
gene: CSNK1E was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: CSNK1E was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CSNK1E were set to 30488659
Phenotypes for gene: CSNK1E were set to Epileptic encephalopathy
Review for gene: CSNK1E was set to RED
Added comment: De novo splicing variant reported but in conjunction with STXBP1 variants; authors postulate it may contribute to susceptibility. Also reports linking variants in this gene to psychiatric disorders.
Sources: Literature
Genetic Epilepsy v0.41 CSNK1E Zornitza Stark Marked gene: CSNK1E as ready
Genetic Epilepsy v0.41 CSNK1E Zornitza Stark Gene: csnk1e has been classified as Red List (Low Evidence).
Genetic Epilepsy v0.41 CSNK1E Zornitza Stark gene: CSNK1E was added
gene: CSNK1E was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Literature
Mode of inheritance for gene: CSNK1E was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CSNK1E were set to 30488659
Phenotypes for gene: CSNK1E were set to Epileptic encephalopathy
Review for gene: CSNK1E was set to RED
Added comment: De novo splicing variant reported but in conjunction with STXBP1 variants; authors postulate it may contribute to susceptibility. Also reports linking variants in this gene to psychiatric disorders.
Sources: Literature
Mendeliome v0.342 DST Zornitza Stark Marked gene: DST as ready
Mendeliome v0.342 DST Zornitza Stark Gene: dst has been classified as Green List (High Evidence).
Mendeliome v0.342 DST Zornitza Stark Phenotypes for gene: DST were changed from to Neuropathy, hereditary sensory and autonomic, type VI, MIM#614653; Epidermolysis bullosa simplex, autosomal recessive 2, MIM#615425
Mendeliome v0.341 DST Zornitza Stark Publications for gene: DST were set to
Mendeliome v0.340 DST Zornitza Stark Mode of inheritance for gene: DST was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.339 DST Zornitza Stark reviewed gene: DST: Rating: GREEN; Mode of pathogenicity: None; Publications: 22522446, 30371979, 28468842; Phenotypes: Neuropathy, hereditary sensory and autonomic, type VI, MIM#614653, Epidermolysis bullosa simplex, autosomal recessive 2, MIM#615425; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.339 DEGS1 Zornitza Stark Marked gene: DEGS1 as ready
Mendeliome v0.339 DEGS1 Zornitza Stark Gene: degs1 has been classified as Green List (High Evidence).
Mendeliome v0.339 DEGS1 Zornitza Stark Classified gene: DEGS1 as Green List (high evidence)
Mendeliome v0.339 DEGS1 Zornitza Stark Gene: degs1 has been classified as Green List (High Evidence).
Mendeliome v0.338 DEGS1 Zornitza Stark gene: DEGS1 was added
gene: DEGS1 was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: DEGS1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DEGS1 were set to 30620338; 30620337
Phenotypes for gene: DEGS1 were set to Leukodystrophy, hypomyelinating, 18, MIM#618404
Review for gene: DEGS1 was set to GREEN
Added comment: 20 individuals from 14 unrelated families.
Sources: Literature
Predominantly Antibody Deficiency v0.3 ARHGEF1 Zornitza Stark Marked gene: ARHGEF1 as ready
Predominantly Antibody Deficiency v0.3 ARHGEF1 Zornitza Stark Gene: arhgef1 has been classified as Red List (Low Evidence).
Predominantly Antibody Deficiency v0.3 ARHGEF1 Zornitza Stark gene: ARHGEF1 was added
gene: ARHGEF1 was added to Predominantly antibody deficiency_MelbourneGenomics_VCGS. Sources: Literature
Mode of inheritance for gene: ARHGEF1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ARHGEF1 were set to 30521495
Phenotypes for gene: ARHGEF1 were set to Immunodeficiency 62, MIM#618459
Review for gene: ARHGEF1 was set to RED
Added comment: Single family, functional data.
Sources: Literature
Mendeliome v0.337 POLD2 Zornitza Stark Marked gene: POLD2 as ready
Mendeliome v0.337 POLD2 Zornitza Stark Gene: pold2 has been classified as Red List (Low Evidence).
Mendeliome v0.337 POLD2 Zornitza Stark gene: POLD2 was added
gene: POLD2 was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: POLD2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: POLD2 were set to 31449058
Phenotypes for gene: POLD2 were set to Intellectual disability; immunodeficiency
Review for gene: POLD2 was set to RED
Added comment: Single family, functional data.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1405 POLD2 Zornitza Stark Marked gene: POLD2 as ready
Intellectual disability syndromic and non-syndromic v0.1405 POLD2 Zornitza Stark Gene: pold2 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1405 POLD2 Zornitza Stark gene: POLD2 was added
gene: POLD2 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
Mode of inheritance for gene: POLD2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: POLD2 were set to 31449058
Phenotypes for gene: POLD2 were set to Intellectual disability; immunodeficiency
Review for gene: POLD2 was set to RED
Added comment: Single family, functional data.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1404 POLD1 Zornitza Stark Marked gene: POLD1 as ready
Intellectual disability syndromic and non-syndromic v0.1404 POLD1 Zornitza Stark Gene: pold1 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1404 POLD1 Zornitza Stark gene: POLD1 was added
gene: POLD1 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
Mode of inheritance for gene: POLD1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: POLD1 were set to 31449058
Phenotypes for gene: POLD1 were set to Intellectual disability; immunodeficiency
Review for gene: POLD1 was set to RED
Added comment: Single family reported with biallelic variants in this gene. Note heterozygous variants cause a different condition: Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome, MIM#615381
Sources: Literature
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.25 MYOCD Zornitza Stark Marked gene: MYOCD as ready
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.25 MYOCD Zornitza Stark Gene: myocd has been classified as Green List (High Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.25 MYOCD Zornitza Stark Classified gene: MYOCD as Green List (high evidence)
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.25 MYOCD Zornitza Stark Gene: myocd has been classified as Green List (High Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.24 MYOCD Zornitza Stark gene: MYOCD was added
gene: MYOCD was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic_VCGS. Sources: Literature
Mode of inheritance for gene: MYOCD was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: MYOCD were set to 31513549
Phenotypes for gene: MYOCD were set to Megabladder; congenital heart disease; cardiomyopathy
Review for gene: MYOCD was set to GREEN
Added comment: Four unrelated families. Mono allelic disease in males (megabladder), bi-allelic disease in males and females (megabladder and congenital heart disease).
Sources: Literature
Mendeliome v0.336 ZNF292 Zornitza Stark Marked gene: ZNF292 as ready
Mendeliome v0.336 ZNF292 Zornitza Stark Gene: znf292 has been classified as Green List (High Evidence).
Mendeliome v0.336 ZNF292 Zornitza Stark Classified gene: ZNF292 as Green List (high evidence)
Mendeliome v0.336 ZNF292 Zornitza Stark Gene: znf292 has been classified as Green List (High Evidence).
Mendeliome v0.335 ZNF292 Zornitza Stark gene: ZNF292 was added
gene: ZNF292 was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: ZNF292 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ZNF292 were set to 31723249
Phenotypes for gene: ZNF292 were set to Intellectual disability; Autism; ADHD
Review for gene: ZNF292 was set to GREEN
Added comment: 28 families with spectrum of neurodevelopmental features (including ID, ASD, and ADHD) due to de novo ZNF292 variants (1 family inherited). No functional evidence of specific variants, but ZNF292 is highly expressed in the developing human brain.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1403 ZNF292 Zornitza Stark Marked gene: ZNF292 as ready
Intellectual disability syndromic and non-syndromic v0.1403 ZNF292 Zornitza Stark Gene: znf292 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1403 ZNF292 Zornitza Stark Added comment: Comment on phenotypes: no OMIM number yet
Intellectual disability syndromic and non-syndromic v0.1403 ZNF292 Zornitza Stark Phenotypes for gene: ZNF292 were changed from no OMIM number yet to Intellectual disability; autism; ADHD
Intellectual disability syndromic and non-syndromic v0.1402 ZMIZ1 Zornitza Stark Marked gene: ZMIZ1 as ready
Intellectual disability syndromic and non-syndromic v0.1402 ZMIZ1 Zornitza Stark Added comment: Comment when marking as ready: Please note transcription error in review relating to another gene, ZNF292. 19 families reported with heterozygous variants in this gene and a neurodevelopmental phenotype.
Intellectual disability syndromic and non-syndromic v0.1402 ZMIZ1 Zornitza Stark Gene: zmiz1 has been classified as Green List (High Evidence).
Mendeliome v0.334 ZMIZ1 Zornitza Stark Marked gene: ZMIZ1 as ready
Mendeliome v0.334 ZMIZ1 Zornitza Stark Gene: zmiz1 has been classified as Green List (High Evidence).
Mendeliome v0.334 ZMIZ1 Zornitza Stark Classified gene: ZMIZ1 as Green List (high evidence)
Mendeliome v0.334 ZMIZ1 Zornitza Stark Gene: zmiz1 has been classified as Green List (High Evidence).
Mendeliome v0.333 ZMIZ1 Zornitza Stark gene: ZMIZ1 was added
gene: ZMIZ1 was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: ZMIZ1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ZMIZ1 were set to 30639322
Phenotypes for gene: ZMIZ1 were set to Neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies; OMIM #618659
Review for gene: ZMIZ1 was set to GREEN
Added comment: 19 unrelated individuals with heterozygous variants in this gene reported.
Sources: Literature
Mendeliome v0.332 VAMP2 Zornitza Stark Marked gene: VAMP2 as ready
Mendeliome v0.332 VAMP2 Zornitza Stark Gene: vamp2 has been classified as Green List (High Evidence).
Mendeliome v0.332 VAMP2 Zornitza Stark Classified gene: VAMP2 as Green List (high evidence)
Mendeliome v0.332 VAMP2 Zornitza Stark Gene: vamp2 has been classified as Green List (High Evidence).
Mendeliome v0.331 VAMP2 Zornitza Stark gene: VAMP2 was added
gene: VAMP2 was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: VAMP2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: VAMP2 were set to 30929742
Phenotypes for gene: VAMP2 were set to Intellectual disability; Autism
Review for gene: VAMP2 was set to GREEN
Added comment: 5 unrelated patients with heterozygous de novo mutations in VAMP2, presenting with a neurodevelopmental disorder characterized by axial hypotonia, intellectual disability, and autistic features. Affected individuals carrying de novo non-synonymous variants involving the C-terminal region presented a more severe phenotype with additional neurological features, including central visual impairment, hyperkinetic movement disorder, and epilepsy or electroencephalography abnormalities. Reconstituted fusion involving a lipid-mixing assay indicated impairment in vesicle fusion as one of the possible associated disease mechanisms.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1402 VAMP2 Zornitza Stark Marked gene: VAMP2 as ready
Intellectual disability syndromic and non-syndromic v0.1402 VAMP2 Zornitza Stark Gene: vamp2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1402 VAMP2 Zornitza Stark Phenotypes for gene: VAMP2 were changed from no OMIM number yet to Intellectual disability; autism; no OMIM number yet
Intellectual disability syndromic and non-syndromic v0.1401 TUBB Zornitza Stark Marked gene: TUBB as ready
Intellectual disability syndromic and non-syndromic v0.1401 TUBB Zornitza Stark Gene: tubb has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1401 TUBB Zornitza Stark Phenotypes for gene: TUBB were changed from to Cortical dysplasia, complex, with other brain malformations 6, MIM#615771
Intellectual disability syndromic and non-syndromic v0.1400 TUBB Zornitza Stark Publications for gene: TUBB were set to
Intellectual disability syndromic and non-syndromic v0.1399 TUBB Zornitza Stark Mode of inheritance for gene: TUBB was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1398 TUBB Zornitza Stark reviewed gene: TUBB: Rating: GREEN; Mode of pathogenicity: None; Publications: 23246003; Phenotypes: Cortical dysplasia, complex, with other brain malformations 6, MIM#615771; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1398 TENM3 Zornitza Stark Marked gene: TENM3 as ready
Intellectual disability syndromic and non-syndromic v0.1398 TENM3 Zornitza Stark Added comment: Comment when marking as ready: Intellectual disability is part of the phenotype.
Intellectual disability syndromic and non-syndromic v0.1398 TENM3 Zornitza Stark Gene: tenm3 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1398 TENM3 Zornitza Stark Classified gene: TENM3 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1398 TENM3 Zornitza Stark Gene: tenm3 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1397 TENM3 Zornitza Stark gene: TENM3 was added
gene: TENM3 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
Mode of inheritance for gene: TENM3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TENM3 were set to 30513139; 22766609; 27103084; 29753094
Phenotypes for gene: TENM3 were set to Microphthalmia, syndromic 15, MIM#615145; coloboma
Review for gene: TENM3 was set to GREEN
Added comment: At least four unrelated families described with syndromic microphthalmia and bi-allelic variants in this gene.
Sources: Literature
Mendeliome v0.330 TENM3 Zornitza Stark Marked gene: TENM3 as ready
Mendeliome v0.330 TENM3 Zornitza Stark Gene: tenm3 has been classified as Green List (High Evidence).
Mendeliome v0.330 TENM3 Zornitza Stark Phenotypes for gene: TENM3 were changed from to Microphthalmia, syndromic 15, MIM#615145; coloboma
Mendeliome v0.329 TENM3 Zornitza Stark Publications for gene: TENM3 were set to
Mendeliome v0.328 TENM3 Zornitza Stark Mode of inheritance for gene: TENM3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.327 TENM3 Zornitza Stark reviewed gene: TENM3: Rating: GREEN; Mode of pathogenicity: None; Publications: 30513139, 22766609, 27103084, 29753094; Phenotypes: Microphthalmia, syndromic 15, MIM#615145, coloboma; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Anophthalmia_Microphthalmia_Coloboma v0.3 TENM3 Zornitza Stark Marked gene: TENM3 as ready
Anophthalmia_Microphthalmia_Coloboma v0.3 TENM3 Zornitza Stark Gene: tenm3 has been classified as Green List (High Evidence).
Anophthalmia_Microphthalmia_Coloboma v0.3 TENM3 Zornitza Stark Classified gene: TENM3 as Green List (high evidence)
Anophthalmia_Microphthalmia_Coloboma v0.3 TENM3 Zornitza Stark Gene: tenm3 has been classified as Green List (High Evidence).
Anophthalmia_Microphthalmia_Coloboma v0.2 TENM3 Zornitza Stark gene: TENM3 was added
gene: TENM3 was added to Anophthalmia, microphthalmia, coloboma_VCGS. Sources: Literature
Mode of inheritance for gene: TENM3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TENM3 were set to 30513139; 22766609; 27103084; 29753094
Phenotypes for gene: TENM3 were set to Microphthalmia, syndromic 15, MIM#615145; coloboma
Review for gene: TENM3 was set to GREEN
Added comment: At least four unrelated families described with syndromic microphthalmia and bi-allelic variants in this gene.
Sources: Literature
Mendeliome v0.327 TARS Zornitza Stark Marked gene: TARS as ready
Mendeliome v0.327 TARS Zornitza Stark Gene: tars has been classified as Amber List (Moderate Evidence).
Mendeliome v0.327 TARS Zornitza Stark Classified gene: TARS as Amber List (moderate evidence)
Mendeliome v0.327 TARS Zornitza Stark Gene: tars has been classified as Amber List (Moderate Evidence).
Mendeliome v0.326 TARS Zornitza Stark gene: TARS was added
gene: TARS was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: TARS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TARS were set to 31374204
Phenotypes for gene: TARS were set to Trichothiodystrophy 7, nonphotosensitive; OMIM #618546
Review for gene: TARS was set to AMBER
Added comment: Clinical features of trichothiodystrophy (TTD) include ichthyosis, intellectual disability, decreased fertility, short stature.

2 unrelated patients with non-photosensitive-TTD, in whom limited clinical information was available (one with DD): one compound heterozygous TARS variants, second homozygous for TARS variant. They showed that the variants had a profound effect on TARS protein stability and enzymatic function.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1396 TARS Zornitza Stark Marked gene: TARS as ready
Intellectual disability syndromic and non-syndromic v0.1396 TARS Zornitza Stark Gene: tars has been classified as Amber List (Moderate Evidence).
Mendeliome v0.325 TANC2 Zornitza Stark Marked gene: TANC2 as ready
Mendeliome v0.325 TANC2 Zornitza Stark Gene: tanc2 has been classified as Green List (High Evidence).
Mendeliome v0.325 TANC2 Zornitza Stark Classified gene: TANC2 as Green List (high evidence)
Mendeliome v0.325 TANC2 Zornitza Stark Gene: tanc2 has been classified as Green List (High Evidence).
Mendeliome v0.324 TANC2 Zornitza Stark gene: TANC2 was added
gene: TANC2 was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: TANC2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TANC2 were set to 31616000
Phenotypes for gene: TANC2 were set to Intellectual disability; autism; epilepsy; dysmorphism
Review for gene: TANC2 was set to GREEN
Added comment: 19 families with potentially disruptive heterozygous TANC2 variants, including 16 likely gene-disrupting mutations and three intragenic microdeletions. Patients presented with autism, intellectual disability, delayed language and motor development, epilepsy, facial dysmorphism, with complex psychiatric dysfunction or behavioral problems in adult probands or carrier parents. No functional evidence of specific variants, but they show TANC2 is expressed broadly in the human developing brain, especially in excitatory neurons and glial cells, and shows a more restricted pattern in Drosophila glial cells where its disruption affects behavioral outcomes.
Sources: Literature
Microcephaly v0.42 SVBP Zornitza Stark Marked gene: SVBP as ready
Microcephaly v0.42 SVBP Zornitza Stark Gene: svbp has been classified as Green List (High Evidence).
Microcephaly v0.42 SVBP Zornitza Stark Classified gene: SVBP as Green List (high evidence)
Microcephaly v0.42 SVBP Zornitza Stark Gene: svbp has been classified as Green List (High Evidence).
Microcephaly v0.41 SVBP Zornitza Stark gene: SVBP was added
gene: SVBP was added to Microcephaly_VCGS. Sources: Literature
Mode of inheritance for gene: SVBP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SVBP were set to 31363758; 30607023
Phenotypes for gene: SVBP were set to Neurodevelopmental disorder with ataxia, hypotonia, and microcephaly; OMIM #618569
Review for gene: SVBP was set to GREEN
Added comment: 5 unrelated families with homozygous mutations in SVBP. The mutations segregated with the disorder in all families. In vitro functional cellular expression studies showed that protein levels of the SVBP mutants were barely detectable, suggesting instability, and that the mutant proteins had lost VASH/SVBP catalytic detyrosination activity toward tubulin. Knockdown of about 50% Svbp expression using shRNA in rat hippocampal neurons impaired the formation of excitatory synapses compared to controls.
Sources: Literature
Mendeliome v0.323 SVBP Zornitza Stark Marked gene: SVBP as ready
Mendeliome v0.323 SVBP Zornitza Stark Gene: svbp has been classified as Green List (High Evidence).
Mendeliome v0.323 SVBP Zornitza Stark Classified gene: SVBP as Green List (high evidence)
Mendeliome v0.323 SVBP Zornitza Stark Gene: svbp has been classified as Green List (High Evidence).
Mendeliome v0.322 SVBP Zornitza Stark gene: SVBP was added
gene: SVBP was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: SVBP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SVBP were set to 31363758; 30607023
Phenotypes for gene: SVBP were set to Neurodevelopmental disorder with ataxia, hypotonia, and microcephaly; OMIM #618569
Review for gene: SVBP was set to GREEN
Added comment: 5 unrelated families with homozygous mutations in SVBP. The mutations segregated with the disorder in all families. In vitro functional cellular expression studies showed that protein levels of the SVBP mutants were barely detectable, suggesting instability, and that the mutant proteins had lost VASH/SVBP catalytic detyrosination activity toward tubulin. Knockdown of about 50% Svbp expression using shRNA in rat hippocampal neurons impaired the formation of excitatory synapses compared to controls.
Sources: Literature
Mendeliome v0.321 SOX4 Zornitza Stark Marked gene: SOX4 as ready
Mendeliome v0.321 SOX4 Zornitza Stark Gene: sox4 has been classified as Green List (High Evidence).
Mendeliome v0.321 SOX4 Zornitza Stark Classified gene: SOX4 as Green List (high evidence)
Mendeliome v0.321 SOX4 Zornitza Stark Gene: sox4 has been classified as Green List (High Evidence).
Mendeliome v0.320 SOX4 Zornitza Stark gene: SOX4 was added
gene: SOX4 was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: SOX4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SOX4 were set to 30661772
Phenotypes for gene: SOX4 were set to Coffin-Siris syndrome 10; OMIM #618506
Review for gene: SOX4 was set to GREEN
Added comment: 4 patients with syndromic DD/ID and de novo mutations in SOX4 gene. Functional assays demonstrated that the SOX4 proteins carrying these variants were unable to bind DNA in vitro and transactivate SOX reporter genes in cultured cells.
Sources: Literature
Mendeliome v0.319 SNRPE Zornitza Stark Marked gene: SNRPE as ready
Mendeliome v0.319 SNRPE Zornitza Stark Gene: snrpe has been classified as Green List (High Evidence).
Mendeliome v0.319 SNRPE Zornitza Stark Phenotypes for gene: SNRPE were changed from to Hypotrichosis 11; OMIM #615059
Mendeliome v0.318 SNRPE Zornitza Stark Publications for gene: SNRPE were set to
Mendeliome v0.317 SNRPE Zornitza Stark Mode of inheritance for gene: SNRPE was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Mendeliome v0.316 SNRPE Zornitza Stark reviewed gene: SNRPE: Rating: GREEN; Mode of pathogenicity: None; Publications: 31671093, 23246290; Phenotypes: Hypotrichosis 11, OMIM #615059; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1396 SNRPE Zornitza Stark Marked gene: SNRPE as ready
Intellectual disability syndromic and non-syndromic v0.1396 SNRPE Zornitza Stark Added comment: Comment when marking as ready: Three unrelated families reported with hypotrichosis simplex; only one family reported with ID.
Intellectual disability syndromic and non-syndromic v0.1396 SNRPE Zornitza Stark Gene: snrpe has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1396 SNRPE Zornitza Stark Publications for gene: SNRPE were set to
Mendeliome v0.316 SCAPER Zornitza Stark Marked gene: SCAPER as ready
Mendeliome v0.316 SCAPER Zornitza Stark Gene: scaper has been classified as Green List (High Evidence).
Mendeliome v0.316 SCAPER Zornitza Stark Classified gene: SCAPER as Green List (high evidence)
Mendeliome v0.316 SCAPER Zornitza Stark Gene: scaper has been classified as Green List (High Evidence).
Mendeliome v0.315 SCAPER Zornitza Stark gene: SCAPER was added
gene: SCAPER was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: SCAPER was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SCAPER were set to 28794130; 31069901; 31192531; 30723319
Phenotypes for gene: SCAPER were set to Intellectual disability; retinitis pigmentosa
Review for gene: SCAPER was set to GREEN
Added comment: 28 patients from 14 unrelated families with ID and retinitis pigmentosa (some with BBS phenotype), and homozygous or compound heterozygous mutations in SCAPER gene.
Sources: Literature
Genetic Epilepsy v0.40 SCAMP5 Zornitza Stark Marked gene: SCAMP5 as ready
Genetic Epilepsy v0.40 SCAMP5 Zornitza Stark Gene: scamp5 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.40 SCAMP5 Zornitza Stark Classified gene: SCAMP5 as Green List (high evidence)
Genetic Epilepsy v0.40 SCAMP5 Zornitza Stark Gene: scamp5 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.39 SCAMP5 Zornitza Stark gene: SCAMP5 was added
gene: SCAMP5 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Literature
Mode of inheritance for gene: SCAMP5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SCAMP5 were set to 31439720
Phenotypes for gene: SCAMP5 were set to Intellectual disability; seizures; autism
Added comment: 2 unrelated individuals with ASD, ID and seizures, with the same heterozygous de novo variant in SCAMP5 (p.Gly302Trp). Western blot analysis of proteins overexpressed in the Drosophila fat body showed strongly reduced levels of the SCAMP p.Gly302Trp protein compared with the wild-type protein, indicating that the mutant either reduced expression or increased turnover of the protein. The expression of the fly homologue of the human SCAMP5 p.Gly180Trp mutation caused similar eye and neuronal phenotypes as the expression of SCAMP RNAi, suggesting a dominant-negative effect.
Sources: Literature
Mendeliome v0.314 SCAMP5 Zornitza Stark Marked gene: SCAMP5 as ready
Mendeliome v0.314 SCAMP5 Zornitza Stark Gene: scamp5 has been classified as Green List (High Evidence).
Mendeliome v0.314 SCAMP5 Zornitza Stark Classified gene: SCAMP5 as Green List (high evidence)
Mendeliome v0.314 SCAMP5 Zornitza Stark Gene: scamp5 has been classified as Green List (High Evidence).
Mendeliome v0.313 SCAMP5 Zornitza Stark gene: SCAMP5 was added
gene: SCAMP5 was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: SCAMP5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SCAMP5 were set to 31439720
Phenotypes for gene: SCAMP5 were set to Intellectual disability; seizures; autism
Mode of pathogenicity for gene: SCAMP5 was set to Other
Review for gene: SCAMP5 was set to GREEN
Added comment: 2 unrelated individuals with ASD, ID and seizures, with the same heterozygous de novo variant in SCAMP5 (p.Gly302Trp). Western blot analysis of proteins overexpressed in the Drosophila fat body showed strongly reduced levels of the SCAMP p.Gly302Trp protein compared with the wild-type protein, indicating that the mutant either reduced expression or increased turnover of the protein. The expression of the fly homologue of the human SCAMP5 p.Gly180Trp mutation caused similar eye and neuronal phenotypes as the expression of SCAMP RNAi, suggesting a dominant-negative effect.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1395 SCAMP5 Zornitza Stark Marked gene: SCAMP5 as ready
Intellectual disability syndromic and non-syndromic v0.1395 SCAMP5 Zornitza Stark Added comment: Comment when marking as ready: Two unrelated individuals and functional data, upgraded to Green.
Intellectual disability syndromic and non-syndromic v0.1395 SCAMP5 Zornitza Stark Gene: scamp5 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1395 SCAMP5 Zornitza Stark Classified gene: SCAMP5 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1395 SCAMP5 Zornitza Stark Gene: scamp5 has been classified as Green List (High Evidence).
Microcephaly v0.40 RNF113A Zornitza Stark Mode of inheritance for gene: RNF113A was changed from BIALLELIC, autosomal or pseudoautosomal to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.312 PPP2CA Zornitza Stark Marked gene: PPP2CA as ready
Mendeliome v0.312 PPP2CA Zornitza Stark Gene: ppp2ca has been classified as Green List (High Evidence).
Mendeliome v0.312 PPP2CA Zornitza Stark Classified gene: PPP2CA as Green List (high evidence)
Mendeliome v0.312 PPP2CA Zornitza Stark Gene: ppp2ca has been classified as Green List (High Evidence).
Mendeliome v0.311 PPP2CA Zornitza Stark gene: PPP2CA was added
gene: PPP2CA was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: PPP2CA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PPP2CA were set to 30595372
Phenotypes for gene: PPP2CA were set to Neurodevelopmental disorder and language delay with or without structural brain abnormalities; OMIM #618354
Review for gene: PPP2CA was set to GREEN
Added comment: 15 unrelated patients with a neurodevelopmental disorder with de novo heterozygous PPP2CA mutations, and 1 with partial deletion of PPP2CA. Functional studies showed complete PP2A dysfunction in 4 individuals with seemingly milder ID, hinting at haploinsufficiency. Ten other individuals showed mutation-specific biochemical distortions, including poor expression, altered binding to the A subunit and specific B-type subunits, and impaired phosphatase activity and C-terminal methylation.
Sources: Literature
Mendeliome v0.310 POU3F3 Zornitza Stark Marked gene: POU3F3 as ready
Mendeliome v0.310 POU3F3 Zornitza Stark Gene: pou3f3 has been classified as Green List (High Evidence).
Mendeliome v0.310 POU3F3 Zornitza Stark Classified gene: POU3F3 as Green List (high evidence)
Mendeliome v0.310 POU3F3 Zornitza Stark Gene: pou3f3 has been classified as Green List (High Evidence).
Mendeliome v0.309 POU3F3 Zornitza Stark gene: POU3F3 was added
gene: POU3F3 was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: POU3F3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: POU3F3 were set to 24550763; 31303265
Phenotypes for gene: POU3F3 were set to Intellectual disability
Review for gene: POU3F3 was set to GREEN
Added comment: 19 individuals with DD/ID/speech issues and heterozygous POU3F3 disruptions, most of which were de novo variants. Positive functional cell-based analyses of pathogenic variants.

1 patient reported with whole gene deletion and ID.
Sources: Literature
Cataract v0.2 PISD Zornitza Stark Marked gene: PISD as ready
Cataract v0.2 PISD Zornitza Stark Gene: pisd has been classified as Green List (High Evidence).
Cataract v0.2 PISD Zornitza Stark Publications for gene: PISD were set to
Cataract v0.1 PISD Zornitza Stark Mode of inheritance for gene: PISD was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cataract v0.0 PISD Zornitza Stark reviewed gene: PISD: Rating: GREEN; Mode of pathogenicity: None; Publications: 31263216, 30858161; Phenotypes: Intellectual disability, cataracts, retinal degeneration, microcephaly, deafness, short stature, white matter abnormalities, no OMIM number yet.; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.308 PISD Zornitza Stark Marked gene: PISD as ready
Mendeliome v0.308 PISD Zornitza Stark Gene: pisd has been classified as Green List (High Evidence).
Mendeliome v0.308 PISD Zornitza Stark Deleted their comment
Mendeliome v0.308 PISD Zornitza Stark commented on gene: PISD: 4 individuals in 2 unrelated but consanguineous families from Portugal and Brazil affected by early-onset retinal degeneration, sensorineural hearing loss, microcephaly, intellectual disability, and skeletal dysplasia with scoliosis and short stature (Liberfarb syndrome). Affected individuals shared a homozygous 10-bp deletion immediately upstream of the last exon of the PISD gene. In HEK293T cells, this variant led to aberrant splicing of PISD transcripts. 1 family with 2 sisters with congenital cataracts, short stature, and white matter changes identified compound heterozygous variants in the PISD gene. Decreased conversion of phosphatidylserine to PE in patient fibroblasts is consistent with impaired phosphatidylserine decarboxylase (PISD) enzyme activity.
Intellectual disability syndromic and non-syndromic v0.1394 PISD Zornitza Stark Phenotypes for gene: PISD were changed from no OMIM number yet. to Intellectual disability; cataracts; retinal degeneration; microcephaly; deafness; short stature; white matter abnormalities; no OMIM number yet.
Mendeliome v0.308 PISD Zornitza Stark reviewed gene: PISD: Rating: GREEN; Mode of pathogenicity: None; Publications: 31263216, 30858161; Phenotypes: Intellectual disability, cataracts, retinal degeneration, microcephaly, deafness, short stature, white matter abnormalities; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.38 PIGU Zornitza Stark Marked gene: PIGU as ready
Genetic Epilepsy v0.38 PIGU Zornitza Stark Gene: pigu has been classified as Green List (High Evidence).
Genetic Epilepsy v0.38 PIGU Zornitza Stark Classified gene: PIGU as Green List (high evidence)
Genetic Epilepsy v0.38 PIGU Zornitza Stark Gene: pigu has been classified as Green List (High Evidence).
Genetic Epilepsy v0.37 PIGU Zornitza Stark gene: PIGU was added
gene: PIGU was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Literature
Mode of inheritance for gene: PIGU was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PIGU were set to 31353022
Phenotypes for gene: PIGU were set to Glycosylphosphatidylinositol biosynthesis defect 21; OMIM #618590
Review for gene: PIGU was set to GREEN
Added comment: 5 patients from 3 unrelated families, with homozygous missense mutations in the PIGU gene. All individuals presented with global DD, severe-to-profound ID, muscular hypotonia, seizures, brain anomalies, scoliosis, and mild facial dysmorphism. Flow cytometric analysis of patient granulocytes showed a characteristic pattern, with reduced cell surface expression of CD16 and CD24. In addition, patient B cells showed increased expression of free GPI anchors determined by a specific antibody, T5. The findings suggested that PIGU mutations reduce the function of the GPI transamidase complex, leading to accumulation of free GPI anchors on the cell surface.
Sources: Literature
Mendeliome v0.308 PIGU Zornitza Stark reviewed gene: PIGU: Rating: GREEN; Mode of pathogenicity: None; Publications: 31353022; Phenotypes: Glycosylphosphatidylinositol biosynthesis defect 21, OMIM #618590; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.36 PIGB Zornitza Stark Marked gene: PIGB as ready
Genetic Epilepsy v0.36 PIGB Zornitza Stark Gene: pigb has been classified as Green List (High Evidence).
Genetic Epilepsy v0.36 PIGB Zornitza Stark Classified gene: PIGB as Green List (high evidence)
Genetic Epilepsy v0.36 PIGB Zornitza Stark Gene: pigb has been classified as Green List (High Evidence).
Genetic Epilepsy v0.35 PIGB Zornitza Stark gene: PIGB was added
gene: PIGB was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Literature
Mode of inheritance for gene: PIGB was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PIGB were set to 31256876
Phenotypes for gene: PIGB were set to Epileptic encephalopathy, early infantile, 80; OMIM #618580
Review for gene: PIGB was set to GREEN
Added comment: 10 unrelated families with biallelic mutations in PIGB, with global DD and/or ID, and seizures. Two had polymicrogyria, 4 had a peripheral neuropathy, and 2 had a clinical diagnosis of DOORS syndrome. Patient lymphocytes and fibroblasts showed variably decreased levels of cell surface GPI-anchored proteins, including CD16 and CD59. In vitro functional expression studies performed with some of the mutations in PIGB-null CHO cells showed that the mutant proteins were unable to fully restore expression of GPI-anchored surface proteins, consistent with a loss of function, although the mutations had variable effects.
Sources: Literature
Mendeliome v0.308 PIGB Zornitza Stark Marked gene: PIGB as ready
Mendeliome v0.308 PIGB Zornitza Stark Gene: pigb has been classified as Green List (High Evidence).
Mendeliome v0.308 PIGB Zornitza Stark Classified gene: PIGB as Green List (high evidence)
Mendeliome v0.308 PIGB Zornitza Stark Gene: pigb has been classified as Green List (High Evidence).
Mendeliome v0.307 PIGB Zornitza Stark gene: PIGB was added
gene: PIGB was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: PIGB was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PIGB were set to 31256876
Phenotypes for gene: PIGB were set to Epileptic encephalopathy, early infantile, 80; OMIM #618580
Review for gene: PIGB was set to GREEN
Added comment: 10 unrelated families with biallelic mutations in PIGB, with global DD and/or ID, and seizures. Two had polymicrogyria, 4 had a peripheral neuropathy, and 2 had a clinical diagnosis of DOORS syndrome. Patient lymphocytes and fibroblasts showed variably decreased levels of cell surface GPI-anchored proteins, including CD16 and CD59. In vitro functional expression studies performed with some of the mutations in PIGB-null CHO cells showed that the mutant proteins were unable to fully restore expression of GPI-anchored surface proteins, consistent with a loss of function, although the mutations had variable effects.
Sources: Literature
Mendeliome v0.306 PIBF1 Zornitza Stark Marked gene: PIBF1 as ready
Mendeliome v0.306 PIBF1 Zornitza Stark Gene: pibf1 has been classified as Green List (High Evidence).
Mendeliome v0.306 PIBF1 Zornitza Stark Classified gene: PIBF1 as Green List (high evidence)
Mendeliome v0.306 PIBF1 Zornitza Stark Gene: pibf1 has been classified as Green List (High Evidence).
Mendeliome v0.305 PIBF1 Zornitza Stark gene: PIBF1 was added
gene: PIBF1 was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: PIBF1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PIBF1 were set to 26167768; 30858804; 29695797
Phenotypes for gene: PIBF1 were set to Joubert syndrome 33; OMIM #617767
Review for gene: PIBF1 was set to GREEN
Added comment: Three unrelated families plus three Hutterite families reported with bi-allelic variants in this gene.
Sources: Literature
Mendeliome v0.304 PHF21A Zornitza Stark Marked gene: PHF21A as ready
Mendeliome v0.304 PHF21A Zornitza Stark Gene: phf21a has been classified as Green List (High Evidence).
Mendeliome v0.304 PHF21A Zornitza Stark Classified gene: PHF21A as Green List (high evidence)
Mendeliome v0.304 PHF21A Zornitza Stark Gene: phf21a has been classified as Green List (High Evidence).
Mendeliome v0.303 PHF21A Zornitza Stark gene: PHF21A was added
gene: PHF21A was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: PHF21A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PHF21A were set to 31649809; 30487643; 22770980
Phenotypes for gene: PHF21A were set to Intellectual disability; dysmorphic features
Review for gene: PHF21A was set to GREEN
Added comment: 9 cases with intellectual disability and craniofacial anomalies (Potocki-Shaffer syndrome), with de novo truncating variants in PHF21A. No functional evidence of variants, but PHF21A is highly expressed in the human fetal brain, which is consistent with the neurodevelopmental phenotype.

2 other unrelated individuals with translocations disrupting PHF21A. Lymphoblastoid cell lines from translocation subjects showed derepression of the neuronal gene SCN3A and reduced LSD1 occupancy at the SCN3A promoter, supporting a direct functional consequence of PHF21A haploinsufficiency on transcriptional regulation.
Sources: Literature
Arrhythmia_SuperPanel v0.0 Zornitza Stark Added Panel Arrhythmia_SuperPanel_VCGS
Set child panels to: Brugada syndrome_VCGS; Ventricular fibrillation_VCGS; Atrial fibrilation_VCGS; Sick sinus syndrome_VCGS; Catecholaminergic polymorphic ventricular tachycardia (CPVT)_VCGS; Short QT syndrome_VCGS; Long QT syndrome_VCGS
Set panel types to: Superpanel
Hypertrophic cardiomyopathy v0.2 C1QBP Zornitza Stark Marked gene: C1QBP as ready
Hypertrophic cardiomyopathy v0.2 C1QBP Zornitza Stark Gene: c1qbp has been classified as Green List (High Evidence).
Hypertrophic cardiomyopathy v0.2 C1QBP Zornitza Stark Classified gene: C1QBP as Green List (high evidence)
Hypertrophic cardiomyopathy v0.2 C1QBP Zornitza Stark Gene: c1qbp has been classified as Green List (High Evidence).
Hypertrophic cardiomyopathy v0.1 C1QBP Zornitza Stark gene: C1QBP was added
gene: C1QBP was added to Hypertrophic cardiomyopathy_VCGS. Sources: Expert list
Mode of inheritance for gene: C1QBP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: C1QBP were set to 28942965
Phenotypes for gene: C1QBP were set to Combined oxidative phosphorylation deficiency 33, MIM#617713
Review for gene: C1QBP was set to GREEN
Added comment: Four unrelated families reported; hypertrophic cardiomyopathy is a feature of the condition.
Sources: Expert list
Cardiomyopathy_Adult_SuperPanel v0.0 Zornitza Stark Added Panel Cardiomyopathy_SuperPanel_VCGS
Set child panels to: Left ventricular non-compaction cardiomyopathy_VCGS; Dilated cardiomyopathy_VCGS; Hypertrophic cardiomyopathy_VCGS; Arrhythmogenic right ventricular cardiomyopathy_VCGS
Set panel types to: Superpanel
Proteinuria v0.3 LAMA5 Zornitza Stark Marked gene: LAMA5 as ready
Proteinuria v0.3 LAMA5 Zornitza Stark Gene: lama5 has been classified as Green List (High Evidence).
Proteinuria v0.3 LAMA5 Zornitza Stark Phenotypes for gene: LAMA5 were changed from to Nephrotic syndrome
Proteinuria v0.2 LAMA5 Zornitza Stark Publications for gene: LAMA5 were set to
Proteinuria v0.1 LAMA5 Zornitza Stark Mode of inheritance for gene: LAMA5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Proteinuria v0.0 LAMA5 Belinda Chong reviewed gene: LAMA5: Rating: GREEN; Mode of pathogenicity: None; Publications: 29534211; Phenotypes: Nephrotic syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.302 POLR2A Sue White Marked gene: POLR2A as ready
Mendeliome v0.302 POLR2A Sue White Gene: polr2a has been classified as Green List (High Evidence).
Mendeliome v0.302 POLR2A Sue White Classified gene: POLR2A as Green List (high evidence)
Mendeliome v0.302 POLR2A Sue White Gene: polr2a has been classified as Green List (High Evidence).
Mendeliome v0.301 POLR2A Sue White gene: POLR2A was added
gene: POLR2A was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: POLR2A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: POLR2A were set to 31353023
Phenotypes for gene: POLR2A were set to Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities, MIM# 618603
Mode of pathogenicity for gene: POLR2A was set to Other
Review for gene: POLR2A was set to GREEN
Added comment: 11 unrelated individuals reported with de novo variants in this gene. Missense variants postulated to exert a dominant-negative effect; LoF variants by contrast resulted in milder phenotype.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1393 POLR2A Sue White Marked gene: POLR2A as ready
Intellectual disability syndromic and non-syndromic v0.1393 POLR2A Sue White Gene: polr2a has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1393 POLR2A Sue White Classified gene: POLR2A as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1393 POLR2A Sue White Gene: polr2a has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1392 POLR2A Sue White gene: POLR2A was added
gene: POLR2A was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
Mode of inheritance for gene: POLR2A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: POLR2A were set to 31353023
Phenotypes for gene: POLR2A were set to Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities, MIM# 618603
Mode of pathogenicity for gene: POLR2A was set to Other
Review for gene: POLR2A was set to GREEN
Added comment: 11 unrelated individuals reported with de novo variants in this gene. Missense variants postulated to exert a dominant-negative effect; LoF variants by contrast resulted in milder phenotype.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1391 GNAI1 Zornitza Stark Marked gene: GNAI1 as ready
Intellectual disability syndromic and non-syndromic v0.1391 GNAI1 Zornitza Stark Gene: gnai1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1391 GNAI1 Zornitza Stark Publications for gene: GNAI1 were set to
Intellectual disability syndromic and non-syndromic v0.1390 GNAI1 Zornitza Stark Phenotypes for gene: GNAI1 were changed from to Intellectual disability
Intellectual disability syndromic and non-syndromic v0.1389 GNAI1 Zornitza Stark Mode of inheritance for gene: GNAI1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1388 GNAI1 Zornitza Stark reviewed gene: GNAI1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28135719; Phenotypes: Intellectual disability; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.300 PAK1 Zornitza Stark Marked gene: PAK1 as ready
Mendeliome v0.300 PAK1 Zornitza Stark Gene: pak1 has been classified as Green List (High Evidence).
Mendeliome v0.300 PAK1 Zornitza Stark Classified gene: PAK1 as Green List (high evidence)
Mendeliome v0.300 PAK1 Zornitza Stark Gene: pak1 has been classified as Green List (High Evidence).
Mendeliome v0.299 PAK1 Zornitza Stark gene: PAK1 was added
gene: PAK1 was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: PAK1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PAK1 were set to 31504246; 30290153
Phenotypes for gene: PAK1 were set to Intellectual developmental disorder with macrocephaly, seizures, and speech delay; OMIM #618158
Review for gene: PAK1 was set to GREEN
Added comment: 2 unrelated individuals with de novo PAK1 mutations, with developmental delay, secondary macrocephaly, seizures, and ataxic gait. Enhanced phosphorylation of the PAK1 targets JNK and AKT shown in fibroblasts of one subject and of c-JUN in those of both subjects compared with control subjects. In fibroblasts of the 2 affected individuals, they observed a trend toward enhanced PAK1 kinase activity. By using co-immunoprecipitation and size-exclusion chromatography, they observed a significantly reduced dimerization for both PAK1 mutants compared with wild-type PAK1.

4 unrelated individuals with intellectual disability, macrocephaly and seizures, with de novo heterozygous missense variants in PAK1.
Sources: Literature
Mendeliome v0.298 P4HTM Zornitza Stark Marked gene: P4HTM as ready
Mendeliome v0.298 P4HTM Zornitza Stark Gene: p4htm has been classified as Green List (High Evidence).
Mendeliome v0.298 P4HTM Zornitza Stark Classified gene: P4HTM as Green List (high evidence)
Mendeliome v0.298 P4HTM Zornitza Stark Gene: p4htm has been classified as Green List (High Evidence).
Mendeliome v0.297 P4HTM Zornitza Stark gene: P4HTM was added
gene: P4HTM was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: P4HTM was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: P4HTM were set to 25078763; 30940925
Phenotypes for gene: P4HTM were set to Hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities; OMIM #618493
Review for gene: P4HTM was set to GREEN
Added comment: 12 patients from 5 families with hypotonia, intellectual disability, and eye abnormalities, and homozygous or compound heterozygous pathogenic P4HTM gene variants. Segregated with the disorder in the families. In vitro functional expression studies of 3 of the P4HTM variants showed that they caused a significant decrease in the amount of soluble protein compared to wildtype.
Sources: Literature
Mendeliome v0.296 NLGN1 Zornitza Stark Marked gene: NLGN1 as ready
Mendeliome v0.296 NLGN1 Zornitza Stark Gene: nlgn1 has been classified as Red List (Low Evidence).
Mendeliome v0.296 NLGN1 Zornitza Stark gene: NLGN1 was added
gene: NLGN1 was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: NLGN1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NLGN1 were set to 30460678
Phenotypes for gene: NLGN1 were set to intellectual disability; autism
Review for gene: NLGN1 was set to RED
Added comment: homozygous variant in the NLGN1 gene found in a pair of monozygotic twin brothers with intellectual disability and autism. Segregated with disease. No functional studies.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1388 NLGN1 Zornitza Stark Marked gene: NLGN1 as ready
Intellectual disability syndromic and non-syndromic v0.1388 NLGN1 Zornitza Stark Gene: nlgn1 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1388 NLGN1 Zornitza Stark Phenotypes for gene: NLGN1 were changed from no OMIM number yet to Intellectual disability; autism; no OMIM number yet
Mendeliome v0.295 NFASC Zornitza Stark Marked gene: NFASC as ready
Mendeliome v0.295 NFASC Zornitza Stark Gene: nfasc has been classified as Green List (High Evidence).
Mendeliome v0.295 NFASC Zornitza Stark Classified gene: NFASC as Green List (high evidence)
Mendeliome v0.295 NFASC Zornitza Stark Gene: nfasc has been classified as Green List (High Evidence).
Mendeliome v0.294 NFASC Zornitza Stark gene: NFASC was added
gene: NFASC was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: NFASC was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NFASC were set to 31501903; 28940097; 30124836; 30850329; 31608123
Phenotypes for gene: NFASC were set to Neurodevelopmental disorder with central and peripheral motor dysfunction; OMIM #618356
Review for gene: NFASC was set to GREEN
Added comment: > 10 unrelated families reported, exhibiting a neurodevelopmental disorder (intellectual disability, developmental delay, motor impairment, speech difficulties, early onset demyelinating neuropathy), with homozygous variants in NFASC. Segregated with the disorder in the family. Some studies with functional evidence.
Sources: Literature
Microcephaly v0.39 NCAPD2 Zornitza Stark Phenotypes for gene: NCAPD2 were changed from Microcephaly 21, primary, autosomal recessive; OMIM #617983 to Microcephaly 21, primary, autosomal recessive; OMIM #617983
Microcephaly v0.39 NCAPD2 Zornitza Stark Marked gene: NCAPD2 as ready
Microcephaly v0.39 NCAPD2 Zornitza Stark Gene: ncapd2 has been classified as Green List (High Evidence).
Microcephaly v0.39 NCAPD2 Zornitza Stark Phenotypes for gene: NCAPD2 were changed from to Microcephaly 21, primary, autosomal recessive; OMIM #617983
Microcephaly v0.38 NCAPD2 Zornitza Stark Mode of inheritance for gene: NCAPD2 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Microcephaly v0.37 NCAPD2 Zornitza Stark Publications for gene: NCAPD2 were set to
Microcephaly v0.37 NCAPD2 Zornitza Stark Mode of inheritance for gene: NCAPD2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Microcephaly v0.36 NCAPD2 Zornitza Stark reviewed gene: NCAPD2: Rating: GREEN; Mode of pathogenicity: None; Publications: 31056748, 27737959, 28097321; Phenotypes: Microcephaly 21, primary, autosomal recessive, OMIM #617983; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.293 NCAPD2 Zornitza Stark Marked gene: NCAPD2 as ready
Mendeliome v0.293 NCAPD2 Zornitza Stark Gene: ncapd2 has been classified as Green List (High Evidence).
Mendeliome v0.293 NCAPD2 Zornitza Stark Phenotypes for gene: NCAPD2 were changed from to Microcephaly 21, primary, autosomal recessive; OMIM #617983
Mendeliome v0.292 NCAPD2 Zornitza Stark Publications for gene: NCAPD2 were set to
Mendeliome v0.291 NCAPD2 Zornitza Stark Mode of inheritance for gene: NCAPD2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.290 NCAPD2 Zornitza Stark reviewed gene: NCAPD2: Rating: GREEN; Mode of pathogenicity: None; Publications: 31056748, 27737959, 28097321; Phenotypes: Microcephaly 21, primary, autosomal recessive, OMIM #617983; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1387 NCAPD2 Zornitza Stark Marked gene: NCAPD2 as ready
Intellectual disability syndromic and non-syndromic v0.1387 NCAPD2 Zornitza Stark Added comment: Comment when marking as ready: Three families, upgraded to Green.
Intellectual disability syndromic and non-syndromic v0.1387 NCAPD2 Zornitza Stark Gene: ncapd2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1387 NCAPD2 Zornitza Stark Classified gene: NCAPD2 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1387 NCAPD2 Zornitza Stark Gene: ncapd2 has been classified as Green List (High Evidence).
Mendeliome v0.290 MEPCE Zornitza Stark Marked gene: MEPCE as ready
Mendeliome v0.290 MEPCE Zornitza Stark Gene: mepce has been classified as Red List (Low Evidence).
Mendeliome v0.290 MEPCE Zornitza Stark gene: MEPCE was added
gene: MEPCE was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: MEPCE was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MEPCE were set to 31467394
Phenotypes for gene: MEPCE were set to Intellectual disability; seizures
Review for gene: MEPCE was set to RED
Added comment: 1 patient with global DD and seizures with de novo MEPCE nonsense variant. mRNA and protein analyses identified nonsense-mediated mRNA decay to underlie the decreased amount of MEPCE in patient fibroblasts followed by LARP7 and 7SK snRNA downregulation and HEXIM1 upregulation. Flavopiridol treatment and ectopic MEPCE protein expression in patient fibroblasts rescued increased expression of six RNAP II-sensitive genes and suggested a possible repressive effect of MEPCE on P-TEFb-dependent transcription of specific genes.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1386 MEPCE Zornitza Stark Marked gene: MEPCE as ready
Intellectual disability syndromic and non-syndromic v0.1386 MEPCE Zornitza Stark Gene: mepce has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1386 MEPCE Zornitza Stark Phenotypes for gene: MEPCE were changed from no OMIM number yet to Intellectual disability; seizures; no OMIM number yet
Callosome v0.42 MAST1 Zornitza Stark Marked gene: MAST1 as ready
Callosome v0.42 MAST1 Zornitza Stark Gene: mast1 has been classified as Green List (High Evidence).
Callosome v0.42 MAST1 Zornitza Stark Classified gene: MAST1 as Green List (high evidence)
Callosome v0.42 MAST1 Zornitza Stark Gene: mast1 has been classified as Green List (High Evidence).
Callosome v0.41 MAST1 Zornitza Stark gene: MAST1 was added
gene: MAST1 was added to Callosome_VCGS. Sources: Literature
Mode of inheritance for gene: MAST1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MAST1 were set to 31721002; 30449657
Phenotypes for gene: MAST1 were set to Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations; OMIM #618273
Review for gene: MAST1 was set to GREEN
Added comment: 6 unrelated patients with mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations (MCCCHCM) with de novo heterozygous mutations in MAST1 gene. In vitro functional studies showed that 1 of the variants (lys276del) increased MAST1 binding to microtubules compared to controls. Mutant mice heterozygous for a Mast1 leu278del allele showed a thicker corpus callosum compared to wildtype, and an overall reduction in cortical volume and thickness and decreased cerebellar volume and number of granule and Purkinje cells due to increased apoptosis compared to controls.

1 Emirati patient with ID, microcephaly, and dysmorphic features, with missense variant in MAST1.
Sources: Literature
Mendeliome v0.289 MAST1 Zornitza Stark Marked gene: MAST1 as ready
Mendeliome v0.289 MAST1 Zornitza Stark Gene: mast1 has been classified as Green List (High Evidence).
Mendeliome v0.289 MAST1 Zornitza Stark Classified gene: MAST1 as Green List (high evidence)
Mendeliome v0.289 MAST1 Zornitza Stark Gene: mast1 has been classified as Green List (High Evidence).
Mendeliome v0.288 MAST1 Zornitza Stark gene: MAST1 was added
gene: MAST1 was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: MAST1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MAST1 were set to 31721002; 30449657
Phenotypes for gene: MAST1 were set to Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations; OMIM #618273
Review for gene: MAST1 was set to GREEN
Added comment: 6 unrelated patients with mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations (MCCCHCM) with de novo heterozygous mutations in MAST1 gene. In vitro functional studies showed that 1 of the variants (lys276del) increased MAST1 binding to microtubules compared to controls. Mutant mice heterozygous for a Mast1 leu278del allele showed a thicker corpus callosum compared to wildtype, and an overall reduction in cortical volume and thickness and decreased cerebellar volume and number of granule and Purkinje cells due to increased apoptosis compared to controls.

1 Emirati patient with ID, microcephaly, and dysmorphic features, with missense variant in MAST1.
Sources: Literature
Mendeliome v0.287 MACROD2 Zornitza Stark Marked gene: MACROD2 as ready
Mendeliome v0.287 MACROD2 Zornitza Stark Gene: macrod2 has been classified as Red List (Low Evidence).
Mendeliome v0.287 MACROD2 Zornitza Stark gene: MACROD2 was added
gene: MACROD2 was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: MACROD2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MACROD2 were set to 31055587
Phenotypes for gene: MACROD2 were set to intellectual disability; dysmorphic features; microcephaly
Review for gene: MACROD2 was set to RED
Added comment: 1 family with a few affected with microcephaly, ID, dysmorphic features, and polydactyly. Deletion of chromosome 20p12.1 involving the MACROD2 gene was found in several members of the family. qRT-PCR showed higher levels of a MACROD2 mRNA isoform in the individuals carrying the deletion.
Sources: Literature
Mendeliome v0.286 LSS Zornitza Stark Marked gene: LSS as ready
Mendeliome v0.286 LSS Zornitza Stark Gene: lss has been classified as Green List (High Evidence).
Mendeliome v0.286 LSS Zornitza Stark Classified gene: LSS as Green List (high evidence)
Mendeliome v0.286 LSS Zornitza Stark Gene: lss has been classified as Green List (High Evidence).
Mendeliome v0.285 LSS Zornitza Stark gene: LSS was added
gene: LSS was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: LSS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LSS were set to 30723320
Phenotypes for gene: LSS were set to Cataract 44, OMIM #616509; Hypotrichosis 14, OMIM #618275; Intellectual disability
Review for gene: LSS was set to GREEN
Added comment: Expanded the phenotypic spectrum of LSS to a recessive neuroectodermal syndrome formerly named alopecia with mental retardation (APMR) syndrome. Ten APMR individuals from 6 unrelated families with biallelic variants in LSS. Quantification of cholesterol and its precursors did not reveal noticeable imbalance.
Sources: Literature
Mendeliome v0.284 LSM1 Zornitza Stark Marked gene: LSM1 as ready
Mendeliome v0.284 LSM1 Zornitza Stark Gene: lsm1 has been classified as Red List (Low Evidence).
Mendeliome v0.284 LSM1 Zornitza Stark gene: LSM1 was added
gene: LSM1 was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: LSM1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LSM1 were set to 31010896
Phenotypes for gene: LSM1 were set to intellectual disability; congenital abnormalities
Review for gene: LSM1 was set to RED
Added comment: 1 family with 2 siblings with global DD, multiple congenital anomalies, and abnormal eye movements, with homozygous splice variant in LSM1. Segregated with the phenotype in the family. Expression studies revealed absence of expression of the canonical isoform in the affected individuals. The Lsm1 knockout mice have a partially overlapping phenotype that affects the brain, heart, and eye.
Sources: Literature
Mendeliome v0.283 LMAN2L Zornitza Stark Marked gene: LMAN2L as ready
Mendeliome v0.283 LMAN2L Zornitza Stark Gene: lman2l has been classified as Amber List (Moderate Evidence).
Mendeliome v0.283 LMAN2L Zornitza Stark Classified gene: LMAN2L as Amber List (moderate evidence)
Mendeliome v0.283 LMAN2L Zornitza Stark Gene: lman2l has been classified as Amber List (Moderate Evidence).
Mendeliome v0.282 LMAN2L Zornitza Stark gene: LMAN2L was added
gene: LMAN2L was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: LMAN2L was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: LMAN2L were set to 31020005; 26566883
Phenotypes for gene: LMAN2L were set to Mental retardation, autosomal recessive, 52; OMIM #616887
Review for gene: LMAN2L was set to AMBER
Added comment: 1 consanguineous family with 7 individuals with ID and epilepsy, with homozygous LMAN2L missense mutation. Segregated with disease in family, and unaffected family members were heterozygous variant carriers. No functional studies.

1 non-consanguineous family with 4 affected with heterozygous frameshift LMAN2L mutation. Segregates in family. Mutation eliminates LMAN2L's endoplasmic reticulum retention signal and mislocalizes the protein from that compartment to the plasma membrane.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1385 LMAN2L Zornitza Stark Marked gene: LMAN2L as ready
Intellectual disability syndromic and non-syndromic v0.1385 LMAN2L Zornitza Stark Gene: lman2l has been classified as Amber List (Moderate Evidence).
Mendeliome v0.281 KDM3B Zornitza Stark gene: KDM3B was added
gene: KDM3B was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: KDM3B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KDM3B were set to 30929739
Phenotypes for gene: KDM3B were set to Intellectual disability; dysmorphic features; short stature
Review for gene: KDM3B was set to GREEN
Added comment: 14 unrelated individuals and 3 affected parents with varying degrees of ID, DD, short stature, dysmorphism, and de novo or inherited pathogenic variants in KDM3B. No functional studies.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1385 KDM3B Zornitza Stark Phenotypes for gene: KDM3B were changed from no OMIM number yet to Intellectual disability; dysmorphic features; short stature; no OMIM number yet
Intellectual disability syndromic and non-syndromic v0.1384 GTF2E2 Zornitza Stark Marked gene: GTF2E2 as ready
Intellectual disability syndromic and non-syndromic v0.1384 GTF2E2 Zornitza Stark Added comment: Comment when marking as ready: Two unrelated families with functional data, upgrade to Green.
Intellectual disability syndromic and non-syndromic v0.1384 GTF2E2 Zornitza Stark Gene: gtf2e2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1384 GTF2E2 Zornitza Stark Classified gene: GTF2E2 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1384 GTF2E2 Zornitza Stark Gene: gtf2e2 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.34 GRIA2 Zornitza Stark Marked gene: GRIA2 as ready
Genetic Epilepsy v0.34 GRIA2 Zornitza Stark Gene: gria2 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.34 GRIA2 Zornitza Stark Classified gene: GRIA2 as Green List (high evidence)
Genetic Epilepsy v0.34 GRIA2 Zornitza Stark Gene: gria2 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.33 GRIA2 Zornitza Stark gene: GRIA2 was added
gene: GRIA2 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Literature
Mode of inheritance for gene: GRIA2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: GRIA2 were set to 31300657
Phenotypes for gene: GRIA2 were set to Intellectual disability; autism; Rett-like features; epileptic encephalopathy
Review for gene: GRIA2 was set to GREEN
Added comment: 28 unrelated patients with ID, ASD, Rett-like features, seizures/EE, and de novo heterozygous GRIA2 mutations. In functional expression studies, mutations led to a decrease in agonist-evoked current mediated by mutant subunits compared to wild-type channels. When GluA2 subunits are co-expressed with GluA1, most GRIA2 mutations cause a decreased current amplitude and some also affect voltage rectification.
Sources: Literature
Mendeliome v0.280 GRIA2 Zornitza Stark Marked gene: GRIA2 as ready
Mendeliome v0.280 GRIA2 Zornitza Stark Gene: gria2 has been classified as Green List (High Evidence).
Mendeliome v0.280 GRIA2 Zornitza Stark Classified gene: GRIA2 as Green List (high evidence)
Mendeliome v0.280 GRIA2 Zornitza Stark Gene: gria2 has been classified as Green List (High Evidence).
Mendeliome v0.279 GRIA2 Zornitza Stark gene: GRIA2 was added
gene: GRIA2 was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: GRIA2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: GRIA2 were set to 31300657
Phenotypes for gene: GRIA2 were set to Intellectual disability; autism; Rett-like features; epileptic encephalopathy
Review for gene: GRIA2 was set to GREEN
Added comment: 28 unrelated patients with ID, ASD, Rett-like features, seizures/EE, and de novo heterozygous GRIA2 mutations. In functional expression studies, mutations led to a decrease in agonist-evoked current mediated by mutant subunits compared to wild-type channels. When GluA2 subunits are co-expressed with GluA1, most GRIA2 mutations cause a decreased current amplitude and some also affect voltage rectification.
Sources: Literature
Mendeliome v0.278 ADGRG6 Zornitza Stark Marked gene: ADGRG6 as ready
Mendeliome v0.278 ADGRG6 Zornitza Stark Added comment: Comment when marking as ready: 1 family with 2 patients with profound ID, severe speech impairment, microcephaly, seizures, spasticity, and cerebellar hypoplasia, with homozygous missense variation in ADGRG6 (GPR126). No functional studies.
Mendeliome v0.278 ADGRG6 Zornitza Stark Gene: adgrg6 has been classified as Red List (Low Evidence).
Mendeliome v0.278 ADGRG6 Zornitza Stark Phenotypes for gene: ADGRG6 were changed from to Lethal congenital contracture syndrome 9; OMIM #616503
Mendeliome v0.277 ADGRG6 Zornitza Stark Publications for gene: ADGRG6 were set to
Mendeliome v0.276 ADGRG6 Zornitza Stark Mode of pathogenicity for gene: ADGRG6 was changed from to None
Mendeliome v0.276 ADGRG6 Zornitza Stark Mode of inheritance for gene: ADGRG6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.275 ADGRG6 Zornitza Stark Classified gene: ADGRG6 as Red List (low evidence)
Mendeliome v0.275 ADGRG6 Zornitza Stark Gene: adgrg6 has been classified as Red List (Low Evidence).
Arthrogryposis v0.11 ADGRG6 Zornitza Stark Marked gene: ADGRG6 as ready
Arthrogryposis v0.11 ADGRG6 Zornitza Stark Gene: adgrg6 has been classified as Red List (Low Evidence).
Arthrogryposis v0.11 ADGRG6 Zornitza Stark Phenotypes for gene: ADGRG6 were changed from to Lethal congenital contracture syndrome 9; OMIM #616503
Arthrogryposis v0.10 ADGRG6 Zornitza Stark Publications for gene: ADGRG6 were set to
Arthrogryposis v0.9 ADGRG6 Zornitza Stark Mode of inheritance for gene: ADGRG6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Arthrogryposis v0.8 ADGRG6 Zornitza Stark Classified gene: ADGRG6 as Red List (low evidence)
Arthrogryposis v0.8 ADGRG6 Zornitza Stark Gene: adgrg6 has been classified as Red List (Low Evidence).
Arthrogryposis v0.7 ADGRG6 Zornitza Stark reviewed gene: ADGRG6: Rating: RED; Mode of pathogenicity: None; Publications: 30549416; Phenotypes: Lethal congenital contracture syndrome 9, OMIM #616503; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1383 ADGRG6 Zornitza Stark Marked gene: ADGRG6 as ready
Intellectual disability syndromic and non-syndromic v0.1383 ADGRG6 Zornitza Stark Gene: adgrg6 has been classified as Red List (Low Evidence).
Genetic Epilepsy v0.32 GABRA5 Zornitza Stark Marked gene: GABRA5 as ready
Genetic Epilepsy v0.32 GABRA5 Zornitza Stark Gene: gabra5 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.32 GABRA5 Zornitza Stark Classified gene: GABRA5 as Green List (high evidence)
Genetic Epilepsy v0.32 GABRA5 Zornitza Stark Gene: gabra5 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.31 GABRA5 Zornitza Stark gene: GABRA5 was added
gene: GABRA5 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Literature
Mode of inheritance for gene: GABRA5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: GABRA5 were set to 31056671; 29961870
Phenotypes for gene: GABRA5 were set to Epileptic encephalopathy, early infantile, 79; OMIM #618559
Review for gene: GABRA5 was set to GREEN
Added comment: 3 unrelated patients with de novo heterozygous missense mutations in GABRA5 gene. In vitro functional expression studies in HEK293 cells showed that the mutant subunit was expressed at the surface and incorporated into the channel, but the mutant channel was 10 times more sensitive to GABA compared to wildtype. This increased sensitization resulted in increased receptor desensitization to GABA, with a reduced maximal GABA-evoked current and impaired capacity to pass GABAergic chloride current.
Sources: Literature
Mendeliome v0.274 GABRA5 Zornitza Stark Marked gene: GABRA5 as ready
Mendeliome v0.274 GABRA5 Zornitza Stark Gene: gabra5 has been classified as Green List (High Evidence).
Mendeliome v0.274 GABRA5 Zornitza Stark Classified gene: GABRA5 as Green List (high evidence)
Mendeliome v0.274 GABRA5 Zornitza Stark Gene: gabra5 has been classified as Green List (High Evidence).
Mendeliome v0.273 GABRA5 Zornitza Stark gene: GABRA5 was added
gene: GABRA5 was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: GABRA5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: GABRA5 were set to 31056671; 29961870
Phenotypes for gene: GABRA5 were set to Epileptic encephalopathy, early infantile, 79; OMIM #618559
Review for gene: GABRA5 was set to GREEN
Added comment: 3 unrelated patients with de novo heterozygous missense mutations in GABRA5 gene. In vitro functional expression studies in HEK293 cells showed that the mutant subunit was expressed at the surface and incorporated into the channel, but the mutant channel was 10 times more sensitive to GABA compared to wildtype. This increased sensitization resulted in increased receptor desensitization to GABA, with a reduced maximal GABA-evoked current and impaired capacity to pass GABAergic chloride current.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1383 FRY Zornitza Stark Marked gene: FRY as ready
Intellectual disability syndromic and non-syndromic v0.1383 FRY Zornitza Stark Gene: fry has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1383 FRY Zornitza Stark Phenotypes for gene: FRY were changed from no OMIM number yet to Intellectual disability; no OMIM number yet
Mendeliome v0.272 FRY Zornitza Stark Marked gene: FRY as ready
Mendeliome v0.272 FRY Zornitza Stark Gene: fry has been classified as Amber List (Moderate Evidence).
Mendeliome v0.272 FRY Zornitza Stark Classified gene: FRY as Amber List (moderate evidence)
Mendeliome v0.272 FRY Zornitza Stark Gene: fry has been classified as Amber List (Moderate Evidence).
Mendeliome v0.271 FRY Zornitza Stark gene: FRY was added
gene: FRY was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: FRY was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FRY were set to 31487712; 27457812; 21937992
Phenotypes for gene: FRY were set to Intellectual disability
Review for gene: FRY was set to AMBER
Added comment: 1 patient with ID/DD and a novel homozygous deletion involving FRY gene identified by genomic SNP microarray. No functional evidence.

2 consanguineous families with 6 affected individuals with ID, and homozygous mutations of FRY. No functional evidence.
Sources: Literature
Mendeliome v0.270 FBXL3 Zornitza Stark Marked gene: FBXL3 as ready
Mendeliome v0.270 FBXL3 Zornitza Stark Gene: fbxl3 has been classified as Green List (High Evidence).
Mendeliome v0.270 FBXL3 Zornitza Stark Classified gene: FBXL3 as Green List (high evidence)
Mendeliome v0.270 FBXL3 Zornitza Stark Gene: fbxl3 has been classified as Green List (High Evidence).
Mendeliome v0.269 FBXL3 Zornitza Stark gene: FBXL3 was added
gene: FBXL3 was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: FBXL3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FBXL3 were set to 30481285
Phenotypes for gene: FBXL3 were set to Intellectual developmental disorder with short stature, facial anomalies, and speech defects; OMIM #606220
Review for gene: FBXL3 was set to GREEN
Added comment: Three unrelated families, multiple affected individuals.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1382 FBXL3 Zornitza Stark Marked gene: FBXL3 as ready
Intellectual disability syndromic and non-syndromic v0.1382 FBXL3 Zornitza Stark Added comment: Comment when marking as ready: Three families, all different variants, promote to green.
Intellectual disability syndromic and non-syndromic v0.1382 FBXL3 Zornitza Stark Gene: fbxl3 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1382 FBXL3 Zornitza Stark Classified gene: FBXL3 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1382 FBXL3 Zornitza Stark Gene: fbxl3 has been classified as Green List (High Evidence).
Mendeliome v0.268 ETS1 Zornitza Stark Marked gene: ETS1 as ready
Mendeliome v0.268 ETS1 Zornitza Stark Gene: ets1 has been classified as Red List (Low Evidence).
Mendeliome v0.268 ETS1 Zornitza Stark gene: ETS1 was added
gene: ETS1 was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: ETS1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ETS1 were set to 31160359
Phenotypes for gene: ETS1 were set to Intellectual disability
Review for gene: ETS1 was set to RED
Added comment: Single individual with de novo truncating variant in this gene; gene is Jacobsen syndrome critical region.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1379 ETS1 Zornitza Stark Marked gene: ETS1 as ready
Intellectual disability syndromic and non-syndromic v0.1379 ETS1 Zornitza Stark Gene: ets1 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1379 ETS1 Zornitza Stark gene: ETS1 was added
gene: ETS1 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
Mode of inheritance for gene: ETS1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ETS1 were set to 31160359
Phenotypes for gene: ETS1 were set to Intellectual disability
Review for gene: ETS1 was set to RED
Added comment: Single individual with de novo truncating variant in this gene; gene is Jacobsen syndrome critical region.
Sources: Literature
Mendeliome v0.267 ELMOD1 Zornitza Stark Marked gene: ELMOD1 as ready
Mendeliome v0.267 ELMOD1 Zornitza Stark Gene: elmod1 has been classified as Red List (Low Evidence).
Mendeliome v0.267 ELMOD1 Zornitza Stark gene: ELMOD1 was added
gene: ELMOD1 was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: ELMOD1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ELMOD1 were set to 31327155
Phenotypes for gene: ELMOD1 were set to Intellectual disability
Review for gene: ELMOD1 was set to RED
Added comment: Single family reported.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1378 ELMOD1 Zornitza Stark Marked gene: ELMOD1 as ready
Intellectual disability syndromic and non-syndromic v0.1378 ELMOD1 Zornitza Stark Gene: elmod1 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1378 ELMOD1 Zornitza Stark gene: ELMOD1 was added
gene: ELMOD1 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
Mode of inheritance for gene: ELMOD1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ELMOD1 were set to 31327155
Phenotypes for gene: ELMOD1 were set to Intellectual disability
Review for gene: ELMOD1 was set to RED
Added comment: Single family reported.
Sources: Literature
Mendeliome v0.266 EEF1D Zornitza Stark Marked gene: EEF1D as ready
Mendeliome v0.266 EEF1D Zornitza Stark Gene: eef1d has been classified as Amber List (Moderate Evidence).
Mendeliome v0.266 EEF1D Zornitza Stark Classified gene: EEF1D as Amber List (moderate evidence)
Mendeliome v0.266 EEF1D Zornitza Stark Gene: eef1d has been classified as Amber List (Moderate Evidence).
Mendeliome v0.265 EEF1D Zornitza Stark gene: EEF1D was added
gene: EEF1D was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: EEF1D was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EEF1D were set to 30787422; 28097321
Phenotypes for gene: EEF1D were set to Intellectual disability
Review for gene: EEF1D was set to AMBER
Added comment: Two unrelated families reported; one as part of a very large cohort of consanguineous families reporting multiple new candidate genes. No functional data.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1377 EEF1D Zornitza Stark Marked gene: EEF1D as ready
Intellectual disability syndromic and non-syndromic v0.1377 EEF1D Zornitza Stark Gene: eef1d has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1377 EEF1D Zornitza Stark Classified gene: EEF1D as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.1377 EEF1D Zornitza Stark Gene: eef1d has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1376 EEF1D Zornitza Stark gene: EEF1D was added
gene: EEF1D was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
Mode of inheritance for gene: EEF1D was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EEF1D were set to 30787422; 28097321
Phenotypes for gene: EEF1D were set to Intellectual disability
Review for gene: EEF1D was set to AMBER
Added comment: Two unrelated families reported; one as part of a very large cohort of consanguineous families reporting multiple new candidate genes. No functional data.
Sources: Literature
Microcephaly v0.36 DYNC1I2 Zornitza Stark Marked gene: DYNC1I2 as ready
Microcephaly v0.36 DYNC1I2 Zornitza Stark Gene: dync1i2 has been classified as Green List (High Evidence).
Microcephaly v0.36 DYNC1I2 Zornitza Stark Classified gene: DYNC1I2 as Green List (high evidence)
Microcephaly v0.36 DYNC1I2 Zornitza Stark Gene: dync1i2 has been classified as Green List (High Evidence).
Microcephaly v0.35 DYNC1I2 Zornitza Stark gene: DYNC1I2 was added
gene: DYNC1I2 was added to Microcephaly_VCGS. Sources: Literature
Mode of inheritance for gene: DYNC1I2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DYNC1I2 were set to 31079899
Phenotypes for gene: DYNC1I2 were set to Neurodevelopmental disorder with microcephaly and structural brain anomalies , MIM#618492
Review for gene: DYNC1I2 was set to GREEN
Added comment: Five individuals from three unrelated families reported.
Sources: Literature
Mendeliome v0.264 DYNC1I2 Zornitza Stark Marked gene: DYNC1I2 as ready
Mendeliome v0.264 DYNC1I2 Zornitza Stark Gene: dync1i2 has been classified as Green List (High Evidence).
Mendeliome v0.264 DYNC1I2 Zornitza Stark Classified gene: DYNC1I2 as Green List (high evidence)
Mendeliome v0.264 DYNC1I2 Zornitza Stark Gene: dync1i2 has been classified as Green List (High Evidence).
Mendeliome v0.263 DYNC1I2 Zornitza Stark gene: DYNC1I2 was added
gene: DYNC1I2 was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: DYNC1I2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DYNC1I2 were set to 31079899
Phenotypes for gene: DYNC1I2 were set to Neurodevelopmental disorder with microcephaly and structural brain anomalies , MIM#618492
Review for gene: DYNC1I2 was set to GREEN
Added comment: Five individuals from three unrelated families reported.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1375 DYNC1I2 Zornitza Stark Marked gene: DYNC1I2 as ready
Intellectual disability syndromic and non-syndromic v0.1375 DYNC1I2 Zornitza Stark Gene: dync1i2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1375 DYNC1I2 Zornitza Stark Classified gene: DYNC1I2 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1375 DYNC1I2 Zornitza Stark Gene: dync1i2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1374 DYNC1I2 Zornitza Stark gene: DYNC1I2 was added
gene: DYNC1I2 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
Mode of inheritance for gene: DYNC1I2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DYNC1I2 were set to 31079899
Phenotypes for gene: DYNC1I2 were set to Neurodevelopmental disorder with microcephaly and structural brain anomalies , MIM#618492
Review for gene: DYNC1I2 was set to GREEN
Added comment: Five individuals from three unrelated families reported.
Sources: Literature
Mendeliome v0.262 DTYMK Zornitza Stark Marked gene: DTYMK as ready
Mendeliome v0.262 DTYMK Zornitza Stark Gene: dtymk has been classified as Red List (Low Evidence).
Mendeliome v0.262 DTYMK Zornitza Stark gene: DTYMK was added
gene: DTYMK was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: DTYMK was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DTYMK were set to 31271740
Phenotypes for gene: DTYMK were set to Intellectual disability; microcephaly
Review for gene: DTYMK was set to RED
Added comment: Single family, two affected sibs with compound het variants reported.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1373 DTYMK Zornitza Stark Marked gene: DTYMK as ready
Intellectual disability syndromic and non-syndromic v0.1373 DTYMK Zornitza Stark Gene: dtymk has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1373 DTYMK Zornitza Stark gene: DTYMK was added
gene: DTYMK was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
Mode of inheritance for gene: DTYMK was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DTYMK were set to 31271740
Phenotypes for gene: DTYMK were set to Intellectual disability; microcephaly
Review for gene: DTYMK was set to RED
Added comment: Single family, two affected sibs with compound het variants reported.
Sources: Literature
Mendeliome v0.261 DNAJA1 Zornitza Stark Marked gene: DNAJA1 as ready
Mendeliome v0.261 DNAJA1 Zornitza Stark Gene: dnaja1 has been classified as Red List (Low Evidence).
Mendeliome v0.261 DNAJA1 Zornitza Stark gene: DNAJA1 was added
gene: DNAJA1 was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: DNAJA1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DNAJA1 were set to 30972502
Phenotypes for gene: DNAJA1 were set to Intellectual disability; seizures
Review for gene: DNAJA1 was set to RED
Added comment: Single family with multiple affected individuals reported with bi-allelic truncating variant in this gene.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1372 DNAJA1 Zornitza Stark Marked gene: DNAJA1 as ready
Intellectual disability syndromic and non-syndromic v0.1372 DNAJA1 Zornitza Stark Gene: dnaja1 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1372 DNAJA1 Zornitza Stark gene: DNAJA1 was added
gene: DNAJA1 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
Mode of inheritance for gene: DNAJA1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DNAJA1 were set to 30972502
Phenotypes for gene: DNAJA1 were set to Intellectual disability; seizures
Review for gene: DNAJA1 was set to RED
Added comment: Single family with multiple affected individuals reported with bi-allelic truncating variant in this gene.
Sources: Literature
Mendeliome v0.260 DLL1 Zornitza Stark Marked gene: DLL1 as ready
Mendeliome v0.260 DLL1 Zornitza Stark Gene: dll1 has been classified as Green List (High Evidence).
Mendeliome v0.260 DLL1 Zornitza Stark Phenotypes for gene: DLL1 were changed from to Intellectual disability; autism; seizures; variable brain abnormalities; scoliosis
Mendeliome v0.259 DLL1 Zornitza Stark Publications for gene: DLL1 were set to
Mendeliome v0.258 DLL1 Zornitza Stark Mode of inheritance for gene: DLL1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.257 DLL1 Zornitza Stark reviewed gene: DLL1: Rating: GREEN; Mode of pathogenicity: None; Publications: 31353024; Phenotypes: Intellectual disability, autism, seizures, variable brain abnormalities, scoliosis; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1371 DLL1 Zornitza Stark Marked gene: DLL1 as ready
Intellectual disability syndromic and non-syndromic v0.1371 DLL1 Zornitza Stark Gene: dll1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1371 DLL1 Zornitza Stark Classified gene: DLL1 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1371 DLL1 Zornitza Stark Gene: dll1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1370 DLL1 Zornitza Stark gene: DLL1 was added
gene: DLL1 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
Mode of inheritance for gene: DLL1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: DLL1 were set to 31353024
Phenotypes for gene: DLL1 were set to Intellectual disability; autism; seizures; variable brain abnormalities; scoliosis
Review for gene: DLL1 was set to GREEN
Added comment: Fifteen individuals from 12 unrelated families reported.
Sources: Literature
Mendeliome v0.257 DDX6 Zornitza Stark Marked gene: DDX6 as ready
Mendeliome v0.257 DDX6 Zornitza Stark Gene: ddx6 has been classified as Green List (High Evidence).
Mendeliome v0.257 DDX6 Zornitza Stark Classified gene: DDX6 as Green List (high evidence)
Mendeliome v0.257 DDX6 Zornitza Stark Gene: ddx6 has been classified as Green List (High Evidence).
Mendeliome v0.256 DDX6 Zornitza Stark gene: DDX6 was added
gene: DDX6 was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: DDX6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: DDX6 were set to 31422817
Phenotypes for gene: DDX6 were set to Intellectual developmental disorder with impaired language and dysmorphic facies, MIM#618653
Review for gene: DDX6 was set to GREEN
Added comment: Five unrelated individuals reported with 5 different de novo heterozygous missense mutations in exon 11 of the DDX6 gene. All variants occurred at conserved residues in either the QxxR or V motifs within the second RecA-2 domain of the helicase core; this region is involved in RNA and/or ATP binding, suggesting functional consequences.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1369 DDX6 Zornitza Stark Marked gene: DDX6 as ready
Intellectual disability syndromic and non-syndromic v0.1369 DDX6 Zornitza Stark Gene: ddx6 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1369 DDX6 Zornitza Stark Classified gene: DDX6 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1369 DDX6 Zornitza Stark Gene: ddx6 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1368 DDX6 Zornitza Stark gene: DDX6 was added
gene: DDX6 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
Mode of inheritance for gene: DDX6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: DDX6 were set to 31422817,
Phenotypes for gene: DDX6 were set to Intellectual developmental disorder with impaired language and dysmorphic facies, MIM#618653
Review for gene: DDX6 was set to GREEN
Added comment: Five unrelated individuals reported with 5 different de novo heterozygous missense mutations in exon 11 of the DDX6 gene. All variants occurred at conserved residues in either the QxxR or V motifs within the second RecA-2 domain of the helicase core; this region is involved in RNA and/or ATP binding, suggesting functional consequences.
Sources: Literature
Genetic Epilepsy v0.30 CYFIP2 Zornitza Stark Marked gene: CYFIP2 as ready
Genetic Epilepsy v0.30 CYFIP2 Zornitza Stark Gene: cyfip2 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.30 CYFIP2 Zornitza Stark Phenotypes for gene: CYFIP2 were changed from to Epileptic encephalopathy, early infantile, 65, MIM#618008
Genetic Epilepsy v0.29 CYFIP2 Zornitza Stark Mode of inheritance for gene: CYFIP2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.28 CYFIP2 Zornitza Stark Publications for gene: CYFIP2 were set to
Genetic Epilepsy v0.28 CYFIP2 Zornitza Stark Mode of inheritance for gene: CYFIP2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.27 CYFIP2 Zornitza Stark reviewed gene: CYFIP2: Rating: GREEN; Mode of pathogenicity: None; Publications: 29534297; Phenotypes: Epileptic encephalopathy, early infantile, 65, MIM#618008; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.255 CYFIP2 Zornitza Stark Marked gene: CYFIP2 as ready
Mendeliome v0.255 CYFIP2 Zornitza Stark Gene: cyfip2 has been classified as Green List (High Evidence).
Mendeliome v0.255 CYFIP2 Zornitza Stark Phenotypes for gene: CYFIP2 were changed from to Epileptic encephalopathy, early infantile, 65, MIM#618008
Mendeliome v0.254 CYFIP2 Zornitza Stark Publications for gene: CYFIP2 were set to
Mendeliome v0.253 CYFIP2 Zornitza Stark Mode of inheritance for gene: CYFIP2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.252 CYFIP2 Zornitza Stark reviewed gene: CYFIP2: Rating: GREEN; Mode of pathogenicity: None; Publications: 29534297; Phenotypes: Epileptic encephalopathy, early infantile, 65, MIM#618008; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1367 CYFIP2 Zornitza Stark Marked gene: CYFIP2 as ready
Intellectual disability syndromic and non-syndromic v0.1367 CYFIP2 Zornitza Stark Gene: cyfip2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1367 CYFIP2 Zornitza Stark Classified gene: CYFIP2 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1367 CYFIP2 Zornitza Stark Gene: cyfip2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1366 CYFIP2 Zornitza Stark gene: CYFIP2 was added
gene: CYFIP2 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
Mode of inheritance for gene: CYFIP2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CYFIP2 were set to 29534297
Phenotypes for gene: CYFIP2 were set to Epileptic encephalopathy, early infantile, 65, MIM#618008
Review for gene: CYFIP2 was set to GREEN
Added comment: Four unrelated individuals with de novo variants in this gene. All variants affected the same highly conserved residue (arg87) in the DUF1394 domain.
Sources: Literature
Autism v0.11 CSDE1 Zornitza Stark Marked gene: CSDE1 as ready
Autism v0.11 CSDE1 Zornitza Stark Gene: csde1 has been classified as Green List (High Evidence).
Autism v0.11 CSDE1 Zornitza Stark Classified gene: CSDE1 as Green List (high evidence)
Autism v0.11 CSDE1 Zornitza Stark Gene: csde1 has been classified as Green List (High Evidence).
Autism v0.10 CSDE1 Zornitza Stark gene: CSDE1 was added
gene: CSDE1 was added to Autism_VCGS. Sources: Literature
Mode of inheritance for gene: CSDE1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CSDE1 were set to 31579823
Phenotypes for gene: CSDE1 were set to Autism; intellectual disability; seizures; macrocephaly
Review for gene: CSDE1 was set to GREEN
Added comment: 18 families reported with high impact (stoppage/frameshift) variants in this gene. Eight de novo, eight inherited, two with undetermined inheritance. Functional data. Parents who had the variants were also affected, though generally more mildly.
Sources: Literature
Mendeliome v0.252 CSDE1 Zornitza Stark Marked gene: CSDE1 as ready
Mendeliome v0.252 CSDE1 Zornitza Stark Gene: csde1 has been classified as Green List (High Evidence).
Mendeliome v0.252 CSDE1 Zornitza Stark Classified gene: CSDE1 as Green List (high evidence)
Mendeliome v0.252 CSDE1 Zornitza Stark Gene: csde1 has been classified as Green List (High Evidence).
Mendeliome v0.251 CSDE1 Zornitza Stark gene: CSDE1 was added
gene: CSDE1 was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: CSDE1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CSDE1 were set to 31579823
Phenotypes for gene: CSDE1 were set to Autism; intellectual disability; seizures; macrocephaly
Review for gene: CSDE1 was set to GREEN
Added comment: 18 families reported with high impact (stoppage/frameshift) variants in this gene. Eight de novo, eight inherited, two with undetermined inheritance. Functional data. Parents who had the variants were also affected, though generally more mildly.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1365 CSDE1 Zornitza Stark Marked gene: CSDE1 as ready
Intellectual disability syndromic and non-syndromic v0.1365 CSDE1 Zornitza Stark Gene: csde1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1365 CSDE1 Zornitza Stark Classified gene: CSDE1 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1365 CSDE1 Zornitza Stark Gene: csde1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1364 CSDE1 Zornitza Stark gene: CSDE1 was added
gene: CSDE1 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
Mode of inheritance for gene: CSDE1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CSDE1 were set to 31579823
Phenotypes for gene: CSDE1 were set to Autism; intellectual disability; seizures; macrocephaly
Review for gene: CSDE1 was set to GREEN
Added comment: 18 families reported with high impact (stoppage/frameshift) variants in this gene. Eight de novo, eight inherited, two with undetermined inheritance. Functional data. Parents who had the variants were also affected, though generally more mildly.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1363 FAM160B1 Chirag Patel gene: FAM160B1 was added
gene: FAM160B1 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
Mode of inheritance for gene: FAM160B1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FAM160B1 were set to PMID: 31353455; 27431290
Phenotypes for gene: FAM160B1 were set to no OMIM number yet
Review for gene: FAM160B1 was set to RED
Added comment: 1 patient with severe ID, microcephaly, behavioral abnormalities, speech problems, mild ataxia and mild facial dysmorphism, and homozygous truncating variant in FAM160B1. No functional studies.

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

1 family with 2 sibs with DD, ID, speech issues, and with homozygous missense variant in FAM160B1. No functional studies.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1362 FBXL3 Chirag Patel Classified gene: FBXL3 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.1362 FBXL3 Chirag Patel Gene: fbxl3 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1361 FBXL3 Chirag Patel gene: FBXL3 was added
gene: FBXL3 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
Mode of inheritance for gene: FBXL3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FBXL3 were set to PubMed: 30481285
Phenotypes for gene: FBXL3 were set to Intellectual developmental disorder with short stature, facial anomalies, and speech defects; OMIM #606220
Review for gene: FBXL3 was set to AMBER
Added comment: 3 unrelated families with 8 affected individuals with ID, DD, short stature and mild facial dysmorphism, and with homozygous mutations in FBXL3. Segregated with the disorder in all 3 families. Functional studies of the variants and studies of patient cells were not performed.
Sources: Literature
Mendeliome v0.250 CNTN6 Zornitza Stark Marked gene: CNTN6 as ready
Mendeliome v0.250 CNTN6 Zornitza Stark Gene: cntn6 has been classified as Red List (Low Evidence).
Mendeliome v0.250 CNTN6 Zornitza Stark gene: CNTN6 was added
gene: CNTN6 was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: CNTN6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CNTN6 were set to 30836150; 28641109; 29983269
Phenotypes for gene: CNTN6 were set to Intellectual disability; autism; Tourette syndrome; schizophrenia
Review for gene: CNTN6 was set to RED
Added comment: Conflicting evidence based on CNV data, no SNVs identified.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1360 CNTN6 Zornitza Stark Marked gene: CNTN6 as ready
Intellectual disability syndromic and non-syndromic v0.1360 CNTN6 Zornitza Stark Gene: cntn6 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1360 CNTN6 Zornitza Stark gene: CNTN6 was added
gene: CNTN6 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
Mode of inheritance for gene: CNTN6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CNTN6 were set to 30836150; 28641109; 29983269
Phenotypes for gene: CNTN6 were set to Intellectual disability; autism; Tourette syndrome; schizophrenia
Review for gene: CNTN6 was set to RED
Added comment: Conflicting evidence based on CNV data, no SNVs identified.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1359 FRY Chirag Patel Classified gene: FRY as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.1359 FRY Chirag Patel Gene: fry has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1358 FRY Chirag Patel gene: FRY was added
gene: FRY was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
Mode of inheritance for gene: FRY was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FRY were set to PMID: 31487712; 27457812; 21937992
Phenotypes for gene: FRY were set to no OMIM number yet
Review for gene: FRY was set to AMBER
Added comment: 1 patient with ID/DD and a novel homozygous deletion involving FRY gene identified by genomic SNP microarray. No functional evidence.

2 consanguineous families with 6 affected individuals with ID, and homozygous mutations of FRY. No functional evidence.
Sources: Literature
Mendeliome v0.249 CMAS Zornitza Stark Marked gene: CMAS as ready
Mendeliome v0.249 CMAS Zornitza Stark Gene: cmas has been classified as Red List (Low Evidence).
Mendeliome v0.249 CMAS Zornitza Stark gene: CMAS was added
gene: CMAS was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: CMAS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CMAS were set to 31495922
Phenotypes for gene: CMAS were set to Intellectual disability
Review for gene: CMAS was set to RED
Added comment: Single family, no functional data.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1357 CMAS Zornitza Stark Marked gene: CMAS as ready
Intellectual disability syndromic and non-syndromic v0.1357 CMAS Zornitza Stark Gene: cmas has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1357 CMAS Zornitza Stark gene: CMAS was added
gene: CMAS was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
Mode of inheritance for gene: CMAS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CMAS were set to 31495922
Phenotypes for gene: CMAS were set to Intellectual disability
Review for gene: CMAS was set to RED
Added comment: Single family, no functional data.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1356 GABRA5 Chirag Patel Marked gene: GABRA5 as ready
Intellectual disability syndromic and non-syndromic v0.1356 GABRA5 Chirag Patel Gene: gabra5 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1356 GABRA5 Chirag Patel Classified gene: GABRA5 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1356 GABRA5 Chirag Patel Gene: gabra5 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1355 GABRA5 Chirag Patel gene: GABRA5 was added
gene: GABRA5 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
Mode of inheritance for gene: GABRA5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: GABRA5 were set to PMID: 31056671; 29961870
Phenotypes for gene: GABRA5 were set to Epileptic encephalopathy, early infantile, 79; OMIM #618559
Review for gene: GABRA5 was set to GREEN
Added comment: 3 unrelated patients with de novo heterozygous missense mutations in GABRA5 gene. In vitro functional expression studies in HEK293 cells showed that the mutant subunit was expressed at the surface and incorporated into the channel, but the mutant channel was 10 times more sensitive to GABA compared to wildtype. This increased sensitization resulted in increased receptor desensitization to GABA, with a reduced maximal GABA-evoked current and impaired capacity to pass GABAergic chloride current.
Sources: Literature
Mendeliome v0.248 CDK8 Zornitza Stark Marked gene: CDK8 as ready
Mendeliome v0.248 CDK8 Zornitza Stark Gene: cdk8 has been classified as Green List (High Evidence).
Mendeliome v0.248 CDK8 Zornitza Stark Classified gene: CDK8 as Green List (high evidence)
Mendeliome v0.248 CDK8 Zornitza Stark Gene: cdk8 has been classified as Green List (High Evidence).
Mendeliome v0.247 CDK8 Zornitza Stark gene: CDK8 was added
gene: CDK8 was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: CDK8 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CDK8 were set to 30905399
Phenotypes for gene: CDK8 were set to Intellectual disability; dysmorphism; congenital abnormalities; seizures
Review for gene: CDK8 was set to GREEN
Added comment: 12 unrelated individuals, missense variants demonstrated as de novo in 10. All variants localize to the ATP-binding pocket of the kinase domain.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1354 ADGRG6 Chirag Patel gene: ADGRG6 was added
gene: ADGRG6 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
Mode of inheritance for gene: ADGRG6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ADGRG6 were set to PMID: 30549416
Phenotypes for gene: ADGRG6 were set to Lethal congenital contracture syndrome 9; OMIM #616503
Review for gene: ADGRG6 was set to RED
Added comment: 1 family with 2 patients with profound ID, severe speech impairment, microcephaly, seizures, spasticity, and cerebellar hypoplasia, with homozygous missense variation in ADGRG6 (GPR126). No functional studies.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1353 CDK8 Zornitza Stark Marked gene: CDK8 as ready
Intellectual disability syndromic and non-syndromic v0.1353 CDK8 Zornitza Stark Gene: cdk8 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1353 CDK8 Zornitza Stark Classified gene: CDK8 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1353 CDK8 Zornitza Stark Gene: cdk8 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1352 CDK8 Zornitza Stark gene: CDK8 was added
gene: CDK8 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
Mode of inheritance for gene: CDK8 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CDK8 were set to 30905399
Phenotypes for gene: CDK8 were set to Intellectual disability; dysmorphism; congenital abnormalities; seizures
Review for gene: CDK8 was set to GREEN
Added comment: 12 unrelated individuals, missense variants demonstrated as de novo in 10. All variants localize to the ATP-binding pocket of the kinase domain.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1351 GRIA2 Chirag Patel Marked gene: GRIA2 as ready
Intellectual disability syndromic and non-syndromic v0.1351 GRIA2 Chirag Patel Gene: gria2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1351 GRIA2 Chirag Patel Classified gene: GRIA2 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1351 GRIA2 Chirag Patel Gene: gria2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1350 GRIA2 Chirag Patel gene: GRIA2 was added
gene: GRIA2 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
Mode of inheritance for gene: GRIA2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: GRIA2 were set to PMID: 31300657
Phenotypes for gene: GRIA2 were set to no OMIM number yet
Review for gene: GRIA2 was set to GREEN
Added comment: 28 unrelated patients with ID, ASD, Rett-like features, seizures/EE, and de novo heterozygous GRIA2 mutations. In functional expression studies, mutations led to a decrease in agonist-evoked current mediated by mutant subunits compared to wild-type channels. When GluA2 subunits are co-expressed with GluA1, most GRIA2 mutations cause a decreased current amplitude and some also affect voltage rectification.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1349 GTF2E2 Chirag Patel changed review comment from: 2 unrelated non-photosensitive TTD families with homozygous missense mutation in GTF2E2. Functional evidence showing mutant TFIIEβ strongly reduces the total amount of the entire TFIIE complex, with a remarkable temperature-sensitive transcription defect, which strikingly correlates with the phenotypic aggravation of key clinical symptoms after episodes of high fever. Induced pluripotent stem cell reprogramming of patient fibroblasts followed by in vitro erythroid differentiation, showed a clear hematopoietic defect during late-stage differentiation associated with hemoglobin subunit imbalance.
Sources: Literature; to: 2 unrelated non-photosensitive TTD families (3 affected) with homozygous missense mutation in GTF2E2. Functional evidence showing mutant TFIIEβ strongly reduces the total amount of the entire TFIIE complex, with a remarkable temperature-sensitive transcription defect, which strikingly correlates with the phenotypic aggravation of key clinical symptoms after episodes of high fever. Induced pluripotent stem cell reprogramming of patient fibroblasts followed by in vitro erythroid differentiation, showed a clear hematopoietic defect during late-stage differentiation associated with hemoglobin subunit imbalance.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1349 GTF2E2 Chirag Patel Classified gene: GTF2E2 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.1349 GTF2E2 Chirag Patel Gene: gtf2e2 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1348 GTF2E2 Chirag Patel gene: GTF2E2 was added
gene: GTF2E2 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
Mode of inheritance for gene: GTF2E2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GTF2E2 were set to PMID: 28973399
Phenotypes for gene: GTF2E2 were set to Trichothiodystrophy 6, nonphotosensitive; OMIM #616943
Review for gene: GTF2E2 was set to AMBER
Added comment: 2 unrelated non-photosensitive TTD families with homozygous missense mutation in GTF2E2. Functional evidence showing mutant TFIIEβ strongly reduces the total amount of the entire TFIIE complex, with a remarkable temperature-sensitive transcription defect, which strikingly correlates with the phenotypic aggravation of key clinical symptoms after episodes of high fever. Induced pluripotent stem cell reprogramming of patient fibroblasts followed by in vitro erythroid differentiation, showed a clear hematopoietic defect during late-stage differentiation associated with hemoglobin subunit imbalance.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1347 KDM3B Chirag Patel Marked gene: KDM3B as ready
Intellectual disability syndromic and non-syndromic v0.1347 KDM3B Chirag Patel Gene: kdm3b has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1347 KDM3B Chirag Patel Classified gene: KDM3B as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1347 KDM3B Chirag Patel Gene: kdm3b has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1346 KDM3B Chirag Patel gene: KDM3B was added
gene: KDM3B was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
Mode of inheritance for gene: KDM3B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KDM3B were set to PMID: 30929739
Phenotypes for gene: KDM3B were set to no OMIM number yet
Review for gene: KDM3B was set to GREEN
Added comment: 14 unrelated individuals and 3 affected parents with varying degrees of ID, DD, short stature, dysmorphism, and de novo or inherited pathogenic variants in KDM3B. No functional studies.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1345 LMAN2L Chirag Patel Classified gene: LMAN2L as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.1345 LMAN2L Chirag Patel Gene: lman2l has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1344 LMAN2L Chirag Patel gene: LMAN2L was added
gene: LMAN2L was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
Mode of inheritance for gene: LMAN2L was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: LMAN2L were set to PMID: 31020005; 26566883
Phenotypes for gene: LMAN2L were set to ?Mental retardation, autosomal recessive, 52; OMIM #616887
Review for gene: LMAN2L was set to AMBER
Added comment: 1 consanguineous family with 7 individuals with ID and epilepsy, with homozygous LMAN2L missense mutation. Segregated with disease in family, and unaffected family members were heterozygous variant carriers. No functional studies.

1 non-consanguineous family with 4 affected with heterozygous frameshift LMAN2L mutation. Segregates in family. Mutation eliminates LMAN2L's endoplasmic reticulum retention signal and mislocalizes the protein from that compartment to the plasma membrane.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1343 LSM1 Chirag Patel gene: LSM1 was added
gene: LSM1 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
Mode of inheritance for gene: LSM1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LSM1 were set to PMID: 31010896
Phenotypes for gene: LSM1 were set to no OMIM number yet
Review for gene: LSM1 was set to RED
Added comment: 1 family with 2 siblings with global DD, multiple congenital anomalies, and abnormal eye movements, with homozygous splice variant in LSM1. Segregated with the phenotype in the family. Expression studies revealed absence of expression of the canonical isoform in the affected individuals. The Lsm1 knockout mice have a partially overlapping phenotype that affects the brain, heart, and eye.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1342 LSS Chirag Patel Marked gene: LSS as ready
Intellectual disability syndromic and non-syndromic v0.1342 LSS Chirag Patel Gene: lss has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1342 LSS Chirag Patel Classified gene: LSS as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1342 LSS Chirag Patel Gene: lss has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1341 LSS Chirag Patel gene: LSS was added
gene: LSS was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
Mode of inheritance for gene: LSS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LSS were set to PMID: 30723320
Phenotypes for gene: LSS were set to Cataract 44, OMIM #616509; Hypotrichosis 14, OMIM #618275
Review for gene: LSS was set to GREEN
Added comment: Expanded the phenotypic spectrum of LSS to a recessive neuroectodermal syndrome formerly named alopecia with mental retardation (APMR) syndrome. Ten APMR individuals from 6 unrelated families with biallelic variants in LSS. Quantification of cholesterol and its precursors did not reveal noticeable imbalance.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1340 MACROD2 Chirag Patel gene: MACROD2 was added
gene: MACROD2 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
Mode of inheritance for gene: MACROD2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MACROD2 were set to PMID: 31055587
Phenotypes for gene: MACROD2 were set to no OMIM number yet
Review for gene: MACROD2 was set to RED
Added comment: 1 family with a few affected with microcephaly, ID, dysmorphic features, and polydactyly. Deletion of chromosome 20p12.1 involving the MACROD2 gene was found in several members of the family. qRT-PCR showed higher levels of a MACROD2 mRNA isoform in the individuals carrying the deletion.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1339 MAST1 Chirag Patel Marked gene: MAST1 as ready
Intellectual disability syndromic and non-syndromic v0.1339 MAST1 Chirag Patel Gene: mast1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1339 MAST1 Chirag Patel Classified gene: MAST1 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1339 MAST1 Chirag Patel Gene: mast1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1338 MAST1 Chirag Patel gene: MAST1 was added
gene: MAST1 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
Mode of inheritance for gene: MAST1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MAST1 were set to PMID: 31721002; 30449657
Phenotypes for gene: MAST1 were set to Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations; OMIM #618273
Review for gene: MAST1 was set to GREEN
Added comment: 6 unrelated patients with mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations (MCCCHCM) with de novo heterozygous mutations in MAST1 gene. In vitro functional studies showed that 1 of the variants (lys276del) increased MAST1 binding to microtubules compared to controls. Mutant mice heterozygous for a Mast1 leu278del allele showed a thicker corpus callosum compared to wildtype, and an overall reduction in cortical volume and thickness and decreased cerebellar volume and number of granule and Purkinje cells due to increased apoptosis compared to controls.

1 Emirati patient with ID, microcephaly, and dysmorphic features, with missense variant in MAST1.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1337 MEPCE Chirag Patel gene: MEPCE was added
gene: MEPCE was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
Mode of inheritance for gene: MEPCE was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MEPCE were set to PMID: 31467394
Phenotypes for gene: MEPCE were set to no OMIM number yet
Review for gene: MEPCE was set to RED
Added comment: 1 patient with global DD and seizures with de novo MEPCE nonsense variant. mRNA and protein analyses identified nonsense-mediated mRNA decay to underlie the decreased amount of MEPCE in patient fibroblasts followed by LARP7 and 7SK snRNA downregulation and HEXIM1 upregulation. Flavopiridol treatment and ectopic MEPCE protein expression in patient fibroblasts rescued increased expression of six RNAP II-sensitive genes and suggested a possible repressive effect of MEPCE on P-TEFb-dependent transcription of specific genes.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1336 NCAPD2 Chirag Patel Classified gene: NCAPD2 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.1336 NCAPD2 Chirag Patel Gene: ncapd2 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1335 NCAPD2 Chirag Patel gene: NCAPD2 was added
gene: NCAPD2 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
Mode of inheritance for gene: NCAPD2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NCAPD2 were set to PMID: 31056748; 27737959; 28097321
Phenotypes for gene: NCAPD2 were set to ?Microcephaly 21, primary, autosomal recessive; OMIM #617983
Review for gene: NCAPD2 was set to AMBER
Added comment: 1 family with 2 sibs with microcephaly and ID, and homozygous NCAPD2 mutation, which segregated with disease. No functional evidence.

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

1 family with 2 sibs with microcephaly, growth retardation, and ID, and homozygous NCAPD2 mutation, which segregated with disease. Functional studies of the variants and studies of patient cells were not performed.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1334 NFASC Chirag Patel Marked gene: NFASC as ready
Intellectual disability syndromic and non-syndromic v0.1334 NFASC Chirag Patel Gene: nfasc has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1334 NFASC Chirag Patel Classified gene: NFASC as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1334 NFASC Chirag Patel Gene: nfasc has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1333 NFASC Chirag Patel gene: NFASC was added
gene: NFASC was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
Mode of inheritance for gene: NFASC was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NFASC were set to PMID: 31501903; 28940097; 30124836; 30850329; 31608123
Phenotypes for gene: NFASC were set to Neurodevelopmental disorder with central and peripheral motor dysfunction; OMIM #618356
Review for gene: NFASC was set to GREEN
Added comment: > 10 unrelated families reported, exhibiting a neurodevelopmental disorder (intellectual disability, developmental delay, motor impairment, speech difficulties, early onset demyelinating neuropathy), with homozygous variants in NFASC. Segregated with the disorder in the family. Some studies with functional evidence.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1332 NLGN1 Chirag Patel gene: NLGN1 was added
gene: NLGN1 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
Mode of inheritance for gene: NLGN1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NLGN1 were set to PMID: 30460678
Phenotypes for gene: NLGN1 were set to no OMIM number yet
Review for gene: NLGN1 was set to RED
Added comment: homozygous variant in the NLGN1 gene found in a pair of monozygotic twin brothers with intellectual disability and autism. Segregated with disease. No functional studies.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1331 P4HTM Chirag Patel Marked gene: P4HTM as ready
Intellectual disability syndromic and non-syndromic v0.1331 P4HTM Chirag Patel Gene: p4htm has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1331 P4HTM Chirag Patel Classified gene: P4HTM as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1331 P4HTM Chirag Patel Gene: p4htm has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1330 P4HTM Chirag Patel gene: P4HTM was added
gene: P4HTM was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
Mode of inheritance for gene: P4HTM was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: P4HTM were set to PMID: 25078763; 30940925
Phenotypes for gene: P4HTM were set to Hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities; OMIM #618493
Review for gene: P4HTM was set to GREEN
Added comment: 12 patients from 5 families with hypotonia, intellectual disability, and eye abnormalities, and homozygous or compound heterozygous pathogenic P4HTM gene variants. Segregated with the disorder in the families. In vitro functional expression studies of 3 of the P4HTM variants showed that they caused a significant decrease in the amount of soluble protein compared to wildtype.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1329 PAK1 Chirag Patel Marked gene: PAK1 as ready
Intellectual disability syndromic and non-syndromic v0.1329 PAK1 Chirag Patel Gene: pak1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1329 PAK1 Chirag Patel Classified gene: PAK1 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1329 PAK1 Chirag Patel Gene: pak1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1328 PAK1 Chirag Patel gene: PAK1 was added
gene: PAK1 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
Mode of inheritance for gene: PAK1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PAK1 were set to PMID: 31504246; 30290153
Phenotypes for gene: PAK1 were set to Intellectual developmental disorder with macrocephaly, seizures, and speech delay; OMIM #618158
Review for gene: PAK1 was set to GREEN
Added comment: 2 unrelated individuals with de novo PAK1 mutations, with developmental delay, secondary macrocephaly, seizures, and ataxic gait. Enhanced phosphorylation of the PAK1 targets JNK and AKT shown in fibroblasts of one subject and of c-JUN in those of both subjects compared with control subjects. In fibroblasts of the 2 affected individuals, they observed a trend toward enhanced PAK1 kinase activity. By using co-immunoprecipitation and size-exclusion chromatography, they observed a significantly reduced dimerization for both PAK1 mutants compared with wild-type PAK1.

4 unrelated individuals with intellectual disability, macrocephaly and seizures, with de novo heterozygous missense variants in PAK1.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1327 PHF21A Chirag Patel Marked gene: PHF21A as ready
Intellectual disability syndromic and non-syndromic v0.1327 PHF21A Chirag Patel Gene: phf21a has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1327 PHF21A Chirag Patel Classified gene: PHF21A as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1327 PHF21A Chirag Patel Gene: phf21a has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1326 PHF21A Chirag Patel gene: PHF21A was added
gene: PHF21A was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
Mode of inheritance for gene: PHF21A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PHF21A were set to PMID: 31649809; 30487643; 22770980
Phenotypes for gene: PHF21A were set to no OMIM number yet.
Review for gene: PHF21A was set to GREEN
Added comment: 9 cases with intellectual disability and craniofacial anomalies (Potocki-Shaffer syndrome), with de novo truncating variants in PHF21A. No functional evidence of variants, but PHF21A is highly expressed in the human fetal brain, which is consistent with the neurodevelopmental phenotype.

2 other unrelated individuals with translocations disrupting PHF21A. Lymphoblastoid cell lines from translocation subjects showed derepression of the neuronal gene SCN3A and reduced LSD1 occupancy at the SCN3A promoter, supporting a direct functional consequence of PHF21A haploinsufficiency on transcriptional regulation.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1325 PIBF1 Chirag Patel Marked gene: PIBF1 as ready
Intellectual disability syndromic and non-syndromic v0.1325 PIBF1 Chirag Patel Gene: pibf1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1325 PIBF1 Chirag Patel Classified gene: PIBF1 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1325 PIBF1 Chirag Patel Gene: pibf1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1324 PIBF1 Chirag Patel gene: PIBF1 was added
gene: PIBF1 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
Mode of inheritance for gene: PIBF1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PIBF1 were set to PubMed: 26167768; 30858804; 29695797
Phenotypes for gene: PIBF1 were set to Joubert syndrome 33; OMIM #617767
Review for gene: PIBF1 was set to GREEN
Added comment: 1 family of Schmiedeleut Hutterite descent with 2 affected brothers with Joubert syndrome had homozygous missense mutation in PIBF1 gene. Parents were heterozygous.

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

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

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

1 unrelated individual with another homozygous missense mutation in PIBF1 gene, but no and functional evidence.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1323 PIGB Chirag Patel Marked gene: PIGB as ready
Intellectual disability syndromic and non-syndromic v0.1323 PIGB Chirag Patel Gene: pigb has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1323 PIGB Chirag Patel Classified gene: PIGB as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1323 PIGB Chirag Patel Gene: pigb has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1322 PIGB Chirag Patel gene: PIGB was added
gene: PIGB was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
Mode of inheritance for gene: PIGB was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PIGB were set to PubMed: 31256876
Phenotypes for gene: PIGB were set to Epileptic encephalopathy, early infantile, 80; OMIM #618580
Review for gene: PIGB was set to GREEN
Added comment: 10 unrelated families with biallelic mutations in PIGB, with global DD and/or ID, and seizures. Two had polymicrogyria, 4 had a peripheral neuropathy, and 2 had a clinical diagnosis of DOORS syndrome. Patient lymphocytes and fibroblasts showed variably decreased levels of cell surface GPI-anchored proteins, including CD16 and CD59. In vitro functional expression studies performed with some of the mutations in PIGB-null CHO cells showed that the mutant proteins were unable to fully restore expression of GPI-anchored surface proteins, consistent with a loss of function, although the mutations had variable effects.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1321 PIGU Chirag Patel Marked gene: PIGU as ready
Intellectual disability syndromic and non-syndromic v0.1321 PIGU Chirag Patel Gene: pigu has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1321 PIGU Chirag Patel Classified gene: PIGU as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1321 PIGU Chirag Patel Gene: pigu has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1320 PIGU Chirag Patel gene: PIGU was added
gene: PIGU was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
Mode of inheritance for gene: PIGU was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PIGU were set to PMID: 31353022
Phenotypes for gene: PIGU were set to Glycosylphosphatidylinositol biosynthesis defect 21; OMIM #618590
Review for gene: PIGU was set to GREEN
Added comment: 5 patients from 3 unrelated families, with homozygous missense mutations in the PIGU gene. All individuals presented with global DD, severe-to-profound ID, muscular hypotonia, seizures, brain anomalies, scoliosis, and mild facial dysmorphism. Flow cytometric analysis of patient granulocytes showed a characteristic pattern, with reduced cell surface expression of CD16 and CD24. In addition, patient B cells showed increased expression of free GPI anchors determined by a specific antibody, T5. The findings suggested that PIGU mutations reduce the function of the GPI transamidase complex, leading to accumulation of free GPI anchors on the cell surface.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1319 PISD Chirag Patel Marked gene: PISD as ready
Intellectual disability syndromic and non-syndromic v0.1319 PISD Chirag Patel Gene: pisd has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1319 PISD Chirag Patel edited their review of gene: PISD: Changed publications: PMID: 31263216, 30858161
Intellectual disability syndromic and non-syndromic v0.1319 PISD Chirag Patel edited their review of gene: PISD: Changed rating: GREEN
Intellectual disability syndromic and non-syndromic v0.1319 PISD Chirag Patel Publications for gene PISD were changed from PMID: 31263216; 30858161 to PMID: 31263216; 30858161
Intellectual disability syndromic and non-syndromic v0.1318 PISD Chirag Patel Classified gene: PISD as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1318 PISD Chirag Patel Gene: pisd has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1317 PISD Chirag Patel changed review comment from: 4 individuals in 2 unrelated but consanguineous families from Portugal and Brazil affected by early-onset retinal degeneration, sensorineural hearing loss, microcephaly, intellectual disability, and skeletal dysplasia with scoliosis and short stature (Liberfarb syndrome). Affected individuals shared a homozygous 10-bp deletion immediately upstream of the last exon of the PISD gene. In HEK293T cells, this variant led to aberrant splicing of PISD transcripts.
Sources: Literature; to: 4 individuals in 2 unrelated but consanguineous families from Portugal and Brazil affected by early-onset retinal degeneration, sensorineural hearing loss, microcephaly, intellectual disability, and skeletal dysplasia with scoliosis and short stature (Liberfarb syndrome). Affected individuals shared a homozygous 10-bp deletion immediately upstream of the last exon of the PISD gene. In HEK293T cells, this variant led to aberrant splicing of PISD transcripts.

1 family with 2 sisters with congenital cataracts, short stature, and white matter changes identified compound heterozygous variants in the PISD gene. Decreased conversion of phosphatidylserine to PE in patient fibroblasts is consistent with impaired phosphatidylserine decarboxylase (PISD) enzyme activity.
Intellectual disability syndromic and non-syndromic v0.1317 PISD Chirag Patel gene: PISD was added
gene: PISD was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
Mode of inheritance for gene: PISD was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PISD were set to PMID: 31263216
Phenotypes for gene: PISD were set to no OMIM number yet.
Review for gene: PISD was set to AMBER
Added comment: 4 individuals in 2 unrelated but consanguineous families from Portugal and Brazil affected by early-onset retinal degeneration, sensorineural hearing loss, microcephaly, intellectual disability, and skeletal dysplasia with scoliosis and short stature (Liberfarb syndrome). Affected individuals shared a homozygous 10-bp deletion immediately upstream of the last exon of the PISD gene. In HEK293T cells, this variant led to aberrant splicing of PISD transcripts.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1316 POU3F3 Chirag Patel Marked gene: POU3F3 as ready
Intellectual disability syndromic and non-syndromic v0.1316 POU3F3 Chirag Patel Gene: pou3f3 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1316 POU3F3 Chirag Patel Classified gene: POU3F3 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1316 POU3F3 Chirag Patel Gene: pou3f3 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1315 POU3F3 Chirag Patel gene: POU3F3 was added
gene: POU3F3 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
Mode of inheritance for gene: POU3F3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: POU3F3 were set to PMID: 24550763; 31303265
Phenotypes for gene: POU3F3 were set to no OMIM number yet.
Review for gene: POU3F3 was set to GREEN
Added comment: 19 individuals with DD/ID/speech issues and heterozygous POU3F3 disruptions, most of which were de novo variants. Positive functional cell-based analyses of pathogenic variants.

1 patient reported with whole gene deletion and ID.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1314 PPP2CA Chirag Patel Classified gene: PPP2CA as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1314 PPP2CA Chirag Patel Gene: ppp2ca has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1313 PPP2CA Chirag Patel gene: PPP2CA was added
gene: PPP2CA was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
Mode of inheritance for gene: PPP2CA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PPP2CA were set to PMID: 30595372
Phenotypes for gene: PPP2CA were set to Neurodevelopmental disorder and language delay with or without structural brain abnormalities; OMIM #618354
Review for gene: PPP2CA was set to GREEN
Added comment: 15 unrelated patients with a neurodevelopmental disorder with de novo heterozygous PPP2CA mutations, and 1 with partial deletion of PPP2CA. Functional studies showed complete PP2A dysfunction in 4 individuals with seemingly milder ID, hinting at haploinsufficiency. Ten other individuals showed mutation-specific biochemical distortions, including poor expression, altered binding to the A subunit and specific B-type subunits, and impaired phosphatase activity and C-terminal methylation.
Sources: Literature
Microcephaly v0.34 RNF113A Zornitza Stark Marked gene: RNF113A as ready
Microcephaly v0.34 RNF113A Zornitza Stark Gene: rnf113a has been classified as Amber List (Moderate Evidence).
Microcephaly v0.34 RNF113A Zornitza Stark Classified gene: RNF113A as Amber List (moderate evidence)
Microcephaly v0.34 RNF113A Zornitza Stark Gene: rnf113a has been classified as Amber List (Moderate Evidence).
Microcephaly v0.33 RNF113A Zornitza Stark gene: RNF113A was added
gene: RNF113A was added to Microcephaly_VCGS. Sources: Literature
Mode of inheritance for gene: RNF113A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RNF113A were set to 25612912; 31793730
Phenotypes for gene: RNF113A were set to Trichothiodystrophy 5, nonphotosensitive; OMIM #300953
Review for gene: RNF113A was set to AMBER
Added comment: 1 family of 2 male cousins with IUGR, progressive microcephaly, profound ID, genital anomalies, and severe linear growth failure, and nonsense Q301X mutation in RNF113A gene. Segregated with disease in the family. The mutation markedly reduced RNF113A protein expression in extracts from lymphoblastoid cell lines derived from the affected individuals.

2 fetuses affected with abnormalities similar to previous report, with the same nonsense Q301X mutation in RNF113A gene. ?Founder effect.
Sources: Literature
Mendeliome v0.246 RNF113A Zornitza Stark Marked gene: RNF113A as ready
Mendeliome v0.246 RNF113A Zornitza Stark Gene: rnf113a has been classified as Amber List (Moderate Evidence).
Mendeliome v0.246 RNF113A Zornitza Stark Phenotypes for gene: RNF113A were changed from to Trichothiodystrophy 5, nonphotosensitive; OMIM #300953
Mendeliome v0.245 RNF113A Zornitza Stark Publications for gene: RNF113A were set to
Mendeliome v0.244 RNF113A Zornitza Stark Mode of inheritance for gene: RNF113A was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.243 RNF113A Zornitza Stark Classified gene: RNF113A as Amber List (moderate evidence)
Mendeliome v0.243 RNF113A Zornitza Stark Gene: rnf113a has been classified as Amber List (Moderate Evidence).
Mendeliome v0.242 RNF113A Zornitza Stark reviewed gene: RNF113A: Rating: AMBER; Mode of pathogenicity: None; Publications: 25612912, 31793730; Phenotypes: Trichothiodystrophy 5, nonphotosensitive, OMIM #300953; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Intellectual disability syndromic and non-syndromic v0.1312 RNF113A Zornitza Stark Marked gene: RNF113A as ready
Intellectual disability syndromic and non-syndromic v0.1312 RNF113A Zornitza Stark Gene: rnf113a has been classified as Amber List (Moderate Evidence).
Microcephaly v0.32 PUS7 Zornitza Stark Marked gene: PUS7 as ready
Microcephaly v0.32 PUS7 Zornitza Stark Gene: pus7 has been classified as Green List (High Evidence).
Microcephaly v0.32 PUS7 Zornitza Stark Classified gene: PUS7 as Green List (high evidence)
Microcephaly v0.32 PUS7 Zornitza Stark Gene: pus7 has been classified as Green List (High Evidence).
Microcephaly v0.31 PUS7 Zornitza Stark gene: PUS7 was added
gene: PUS7 was added to Microcephaly_VCGS. Sources: Literature
Mode of inheritance for gene: PUS7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PUS7 were set to 30526862; 30778726; 31583274
Phenotypes for gene: PUS7 were set to Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature; OMIM #618342
Added comment: 11 patients from 6 families with ID, speech delay, short stature, microcephaly, and aggressive behavior, with homozygous PUS7 mutations, which segregated with disease.
Sources: Literature
Mendeliome v0.242 PUS7 Zornitza Stark Marked gene: PUS7 as ready
Mendeliome v0.242 PUS7 Zornitza Stark Gene: pus7 has been classified as Green List (High Evidence).
Mendeliome v0.242 PUS7 Zornitza Stark Classified gene: PUS7 as Green List (high evidence)
Mendeliome v0.242 PUS7 Zornitza Stark Gene: pus7 has been classified as Green List (High Evidence).
Mendeliome v0.241 PUS7 Zornitza Stark gene: PUS7 was added
gene: PUS7 was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: PUS7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PUS7 were set to 30526862; 30778726; 31583274
Phenotypes for gene: PUS7 were set to Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature; OMIM #618342
Review for gene: PUS7 was set to GREEN
Added comment: 11 patients from 6 families with ID, speech delay, short stature, microcephaly, and aggressive behavior, with homozygous PUS7 mutations, which segregated with disease.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1312 PUS7 Zornitza Stark Marked gene: PUS7 as ready
Intellectual disability syndromic and non-syndromic v0.1312 PUS7 Zornitza Stark Gene: pus7 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1312 PUS7 Chirag Patel Classified gene: PUS7 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1312 PUS7 Chirag Patel Gene: pus7 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1311 PUS7 Chirag Patel gene: PUS7 was added
gene: PUS7 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
Mode of inheritance for gene: PUS7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PUS7 were set to PMID: 30526862; 30778726; 31583274
Phenotypes for gene: PUS7 were set to Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature; OMIM #618342
Review for gene: PUS7 was set to GREEN
Added comment: 11 patients from 6 families with ID, speech delay, short stature, microcephaly, and aggressive behavior, with homozygous PUS7 mutations, which segregated with disease.

One study showed disease-related variants lead to abolishment of PUS7 activity on both tRNA and mRNA substrates. pus7 knockout in Drosophila melanogaster results in a number of behavioral defects, including increased activity, disorientation, and aggressiveness supporting that neurological defects are caused by PUS7 variants.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1310 RNF113A Chirag Patel Classified gene: RNF113A as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.1310 RNF113A Chirag Patel Gene: rnf113a has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1309 RNF113A Chirag Patel gene: RNF113A was added
gene: RNF113A was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
Mode of inheritance for gene: RNF113A was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for gene: RNF113A were set to PMID: 25612912; 31793730
Phenotypes for gene: RNF113A were set to ?Trichothiodystrophy 5, nonphotosensitive; OMIM #300953
Review for gene: RNF113A was set to AMBER
Added comment: 1 family of 2 male cousins with IUGR, progressive microcephaly, profound ID, genital anomalies, and severe linear growth failure, and nonsense Q301X mutation in RNF113A gene. Segregated with disease in the family. The mutation markedly reduced RNF113A protein expression in extracts from lymphoblastoid cell lines derived from the affected individuals.

2 fetuses affected with abnormalities similar to previous report, with the same nonsense Q301X mutation in RNF113A gene (can not access paper to see if from same family or functional evidence).
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1308 SCAMP5 Chirag Patel Classified gene: SCAMP5 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.1308 SCAMP5 Chirag Patel Gene: scamp5 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1307 SCAMP5 Chirag Patel gene: SCAMP5 was added
gene: SCAMP5 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
Mode of inheritance for gene: SCAMP5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SCAMP5 were set to PMID: 31439720
Phenotypes for gene: SCAMP5 were set to no OMIM number yet
Review for gene: SCAMP5 was set to AMBER
Added comment: 2 unrelated individuals with ASD, ID and seizures, with the same heterozygous de novo variant in SCAMP5 (p.Gly302Trp). Western blot analysis of proteins overexpressed in the Drosophila fat body showed strongly reduced levels of the SCAMP p.Gly302Trp protein compared with the wild-type protein, indicating that the mutant either reduced expression or increased turnover of the protein. The expression of the fly homologue of the human SCAMP5 p.Gly180Trp mutation caused similar eye and neuronal phenotypes as the expression of SCAMP RNAi, suggesting a dominant-negative effect.
Sources: Literature
Mendeliome v0.240 SEMA5A Zornitza Stark Marked gene: SEMA5A as ready
Mendeliome v0.240 SEMA5A Zornitza Stark Gene: sema5a has been classified as Amber List (Moderate Evidence).
Mendeliome v0.240 SEMA5A Zornitza Stark Classified gene: SEMA5A as Amber List (moderate evidence)
Mendeliome v0.240 SEMA5A Zornitza Stark Gene: sema5a has been classified as Amber List (Moderate Evidence).
Mendeliome v0.239 SEMA5A Zornitza Stark gene: SEMA5A was added
gene: SEMA5A was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: SEMA5A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SEMA5A were set to 26395558
Phenotypes for gene: SEMA5A were set to Intellectual disability; autism
Review for gene: SEMA5A was set to AMBER
Added comment: 1 patient with de novo translocation t(5;22)(p15.3;q11.21) and ASD and ID. At the translocation breakpoint on chromosome 5, they observed a 861-kb deletion encompassing the end of the SEMA5A gene. No functional studies.

2 patients with ASD and predicted deleterious heterozygous variants (maternally inherited). No functional studies
Sources: Literature
Mendeliome v0.238 SMARCC2 Zornitza Stark Marked gene: SMARCC2 as ready
Mendeliome v0.238 SMARCC2 Zornitza Stark Gene: smarcc2 has been classified as Green List (High Evidence).
Mendeliome v0.238 SMARCC2 Zornitza Stark Classified gene: SMARCC2 as Green List (high evidence)
Mendeliome v0.238 SMARCC2 Zornitza Stark Gene: smarcc2 has been classified as Green List (High Evidence).
Mendeliome v0.237 SMARCC2 Zornitza Stark gene: SMARCC2 was added
gene: SMARCC2 was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: SMARCC2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SMARCC2 were set to 30580808
Phenotypes for gene: SMARCC2 were set to Coffin-Siris syndrome 8; OMIM #618362
Review for gene: SMARCC2 was set to GREEN
Added comment: 15 individuals with variable degrees of neurodevelopmental delay, growth retardation, prominent speech impairment, hypotonia, feeding difficulties, behavioral abnormalities, and dysmorphic features.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1306 SCAPER Chirag Patel Classified gene: SCAPER as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1306 SCAPER Chirag Patel Gene: scaper has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1305 SCAPER Chirag Patel gene: SCAPER was added
gene: SCAPER was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
Mode of inheritance for gene: SCAPER was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SCAPER were set to PMID: 28794130; 31069901; 31192531; 30723319
Phenotypes for gene: SCAPER were set to Intellectual developmental disorder and retinitis pigmentosa; OMIM #618195
Review for gene: SCAPER was set to GREEN
Added comment: 28 patients from 14 unrelated families with ID and retinitis pigmentosa (some with BBS phenotype), and homozygous or compound heterozygous mutations in SCAPER gene. No functional evidence of specific variants.

Analyses of SCAPER expression in human and mouse brain revealed an upregulation of SCAPER expression during cortical development and a higher expression of SCAPER in neurons compared to neural progenitors.
Sources: Literature
Mendeliome v0.236 SMARCD1 Zornitza Stark Marked gene: SMARCD1 as ready
Mendeliome v0.236 SMARCD1 Zornitza Stark Gene: smarcd1 has been classified as Green List (High Evidence).
Mendeliome v0.236 SMARCD1 Zornitza Stark Classified gene: SMARCD1 as Green List (high evidence)
Mendeliome v0.236 SMARCD1 Zornitza Stark Gene: smarcd1 has been classified as Green List (High Evidence).
Mendeliome v0.235 SMARCD1 Zornitza Stark gene: SMARCD1 was added
gene: SMARCD1 was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: SMARCD1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SMARCD1 were set to 30879640
Phenotypes for gene: SMARCD1 were set to Intellectual disability; dysmorphic features
Review for gene: SMARCD1 was set to GREEN
Added comment: 5 individuals with heterozygous SMARCD1 variants (4 de novo, 1 unk), and developmental delay, intellectual disability, hypotonia, feeding difficulties, dysmorphisms, and small hands and feet.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1304 SMARCD1 Zornitza Stark Marked gene: SMARCD1 as ready
Intellectual disability syndromic and non-syndromic v0.1304 SMARCD1 Zornitza Stark Gene: smarcd1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1304 SMARCC2 Zornitza Stark Marked gene: SMARCC2 as ready
Intellectual disability syndromic and non-syndromic v0.1304 SMARCC2 Zornitza Stark Gene: smarcc2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1304 SEMA5A Zornitza Stark Marked gene: SEMA5A as ready
Intellectual disability syndromic and non-syndromic v0.1304 SEMA5A Zornitza Stark Gene: sema5a has been classified as Amber List (Moderate Evidence).
Mendeliome v0.234 BRSK2 Zornitza Stark Marked gene: BRSK2 as ready
Mendeliome v0.234 BRSK2 Zornitza Stark Gene: brsk2 has been classified as Green List (High Evidence).
Mendeliome v0.234 BRSK2 Zornitza Stark Classified gene: BRSK2 as Green List (high evidence)
Mendeliome v0.234 BRSK2 Zornitza Stark Gene: brsk2 has been classified as Green List (High Evidence).
Mendeliome v0.233 BRSK2 Zornitza Stark gene: BRSK2 was added
gene: BRSK2 was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: BRSK2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: BRSK2 were set to 30879638
Phenotypes for gene: BRSK2 were set to Intellectual disability; autism
Review for gene: BRSK2 was set to GREEN
Added comment: Nine unrelated individuals with heterozygous variants in this gene; six confirmed de novo (parents available).
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1304 BRSK2 Zornitza Stark Marked gene: BRSK2 as ready
Intellectual disability syndromic and non-syndromic v0.1304 BRSK2 Zornitza Stark Gene: brsk2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1304 BRSK2 Zornitza Stark Classified gene: BRSK2 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1304 BRSK2 Zornitza Stark Gene: brsk2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1303 BRSK2 Zornitza Stark gene: BRSK2 was added
gene: BRSK2 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
Mode of inheritance for gene: BRSK2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: BRSK2 were set to 30879638
Phenotypes for gene: BRSK2 were set to Intellectual disability; autism
Review for gene: BRSK2 was set to GREEN
Added comment: Nine unrelated individuals with heterozygous variants in this gene; six confirmed de novo (parents available).
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1302 SEMA5A Chirag Patel Classified gene: SEMA5A as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.1302 SEMA5A Chirag Patel Gene: sema5a has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1301 SEMA5A Chirag Patel gene: SEMA5A was added
gene: SEMA5A was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
Mode of inheritance for gene: SEMA5A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SEMA5A were set to PMID: 26395558
Phenotypes for gene: SEMA5A were set to no OMIM number yet
Review for gene: SEMA5A was set to AMBER
Added comment: 1 patient with de novo translocation t(5;22)(p15.3;q11.21) and ASD and ID. At the translocation breakpoint on chromosome 5, they observed a 861-kb deletion encompassing the end of the SEMA5A gene. No functional studies.

2 patients with ASD and predicted deleterious heterozygous variants (maternally inherited). No functional studies.
Sources: Literature
Mendeliome v0.232 BCORL1 Zornitza Stark Marked gene: BCORL1 as ready
Mendeliome v0.232 BCORL1 Zornitza Stark Gene: bcorl1 has been classified as Green List (High Evidence).
Mendeliome v0.232 BCORL1 Zornitza Stark Classified gene: BCORL1 as Green List (high evidence)
Mendeliome v0.232 BCORL1 Zornitza Stark Gene: bcorl1 has been classified as Green List (High Evidence).
Mendeliome v0.231 BCORL1 Zornitza Stark gene: BCORL1 was added
gene: BCORL1 was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: BCORL1 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for gene: BCORL1 were set to 24123876; 30941876
Phenotypes for gene: BCORL1 were set to Shukla-Vernon syndrome, MIM#301029
Review for gene: BCORL1 was set to GREEN
Added comment: Four unrelated families reported altogether; some mothers mildly affected.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1300 BCORL1 Zornitza Stark Marked gene: BCORL1 as ready
Intellectual disability syndromic and non-syndromic v0.1300 BCORL1 Zornitza Stark Gene: bcorl1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1300 BCORL1 Zornitza Stark Classified gene: BCORL1 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1300 BCORL1 Zornitza Stark Gene: bcorl1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1299 SMARCC2 Chirag Patel Classified gene: SMARCC2 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1299 BCORL1 Zornitza Stark gene: BCORL1 was added
gene: BCORL1 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
Mode of inheritance for gene: BCORL1 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for gene: BCORL1 were set to 24123876; 30941876
Phenotypes for gene: BCORL1 were set to Shukla-Vernon syndrome, MIM#301029
Review for gene: BCORL1 was set to GREEN
Added comment: Four unrelated families reported altogether; some mothers mildly affected.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1299 SMARCC2 Chirag Patel Gene: smarcc2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1298 SMARCC2 Chirag Patel gene: SMARCC2 was added
gene: SMARCC2 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
Mode of inheritance for gene: SMARCC2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SMARCC2 were set to PMID: 30580808
Phenotypes for gene: SMARCC2 were set to Coffin-Siris syndrome 8; OMIM #618362
Review for gene: SMARCC2 was set to GREEN
Added comment: 15 individuals with variable degrees of neurodevelopmental delay, growth retardation, prominent speech impairment, hypotonia, feeding difficulties, behavioral abnormalities, and dysmorphic features. They found heterozygous de novo SMARCC2 variants, but no functional evidence of specific variants. Transcriptomic analysis of fibroblasts from affected individuals highlighted a group of differentially expressed genes with possible roles in regulation of neuronal development and function, namely H19, SCRG1, RELN, and CACNB4.
Sources: Literature
Mendeliome v0.230 BCL11B Zornitza Stark Marked gene: BCL11B as ready
Mendeliome v0.230 BCL11B Zornitza Stark Gene: bcl11b has been classified as Green List (High Evidence).
Mendeliome v0.230 BCL11B Zornitza Stark Classified gene: BCL11B as Green List (high evidence)
Mendeliome v0.230 BCL11B Zornitza Stark Gene: bcl11b has been classified as Green List (High Evidence).
Mendeliome v0.229 BCL11B Zornitza Stark gene: BCL11B was added
gene: BCL11B was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: BCL11B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: BCL11B were set to 29985992
Phenotypes for gene: BCL11B were set to Intellectual developmental disorder with dysmorphic facies, speech delay, and T-cell abnormalities, MIM# 618092
Review for gene: BCL11B was set to GREEN
Added comment: Nine unrelated individuals, all but one with de novo variants in this gene and syndromic ID/immunodeficiency. Most variants located in the last exon (exon 4) and are predicted to escape nonsense-mediated mRNA decay.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1297 SMARCD1 Chirag Patel Classified gene: SMARCD1 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1297 SMARCD1 Chirag Patel Gene: smarcd1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1296 SMARCD1 Chirag Patel gene: SMARCD1 was added
gene: SMARCD1 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
Mode of inheritance for gene: SMARCD1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SMARCD1 were set to PMID: 30879640
Phenotypes for gene: SMARCD1 were set to no OMIM number yet
Review for gene: SMARCD1 was set to GREEN
Added comment: 5 individuals with heterozygous SMARCD1 variants (4 de novo, 1 unk), and developmental delay, intellectual disability, hypotonia, feeding difficulties, dysmorphisms, and small hands and feet. No functional evidence of some variants was not conclusive with immunoblot or co-immunoprecipitation studies. Targeted knockdown of Drosophila ortholog Bap60 in the mushroom body of adult flies causes defects in long-term memory. Mushroom-body-specific transcriptome analysis revealed that Bap60 is required for context-dependent expression of genes involved in neuron function and development in juvenile flies when synaptic connections are actively being formed in response to experience. T
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1295 BCL11B Zornitza Stark Marked gene: BCL11B as ready
Intellectual disability syndromic and non-syndromic v0.1295 BCL11B Zornitza Stark Gene: bcl11b has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1295 BCL11B Zornitza Stark Classified gene: BCL11B as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1295 BCL11B Zornitza Stark Gene: bcl11b has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1294 BCL11B Zornitza Stark gene: BCL11B was added
gene: BCL11B was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
Mode of inheritance for gene: BCL11B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: BCL11B were set to 29985992
Phenotypes for gene: BCL11B were set to Intellectual developmental disorder with dysmorphic facies, speech delay, and T-cell abnormalities, MIM# 618092
Review for gene: BCL11B was set to GREEN
Added comment: Nine unrelated individuals, all but one with de novo variants in this gene and syndromic ID/immunodeficiency. Most variants located in the last exon (exon 4) and are predicted to escape nonsense-mediated mRNA decay.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1293 SNRPE Chirag Patel edited their review of gene: SNRPE: Changed rating: RED
Intellectual disability syndromic and non-syndromic v0.1293 SNRPE Chirag Patel gene: SNRPE was added
gene: SNRPE was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
Mode of inheritance for gene: SNRPE was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SNRPE were set to Hypotrichosis 11; OMIM #615059
Review for gene: SNRPE was set to AMBER
Added comment: 1 patient with de novo heterozygous missense SNRPE mutation, with non-syndromic primary microcephaly and intellectual disability. SNRPE encodes SmE and they showed that the microcephaly-linked SmE variant is unable to interact with the SMN complex and as a consequence fails to assemble into U snRNPs. This results in widespread mRNA splicing alterations in fibroblast cells derived from this patient. Similar alterations were observed in HEK293 cells upon SmE depletion that could be rescued by the expression of wild type but not mutant SmE. Depletion of SmE in zebrafish causes aberrant mRNA splicing alterations and reduced brain size, reminiscent of the patient microcephaly phenotype.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1292 SOX4 Chirag Patel Classified gene: SOX4 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1292 SOX4 Chirag Patel Gene: sox4 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1291 SOX4 Chirag Patel gene: SOX4 was added
gene: SOX4 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
Mode of inheritance for gene: SOX4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SOX4 were set to PMID: 30661772
Phenotypes for gene: SOX4 were set to Coffin-Siris syndrome 10; OMIM #618506
Review for gene: SOX4 was set to GREEN
Added comment: 4 patients with syndromic DD/ID and de novo mutations in SOX4 gene. Functional assays demonstrated that the SOX4 proteins carrying these variants were unable to bind DNA in vitro and transactivate SOX reporter genes in cultured cells.
Sources: Literature
Mendeliome v0.228 ATN1 Zornitza Stark Marked gene: ATN1 as ready
Mendeliome v0.228 ATN1 Zornitza Stark Gene: atn1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1290 SVBP Chirag Patel Classified gene: SVBP as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1290 SVBP Chirag Patel Gene: svbp has been classified as Green List (High Evidence).
Mendeliome v0.228 ATN1 Zornitza Stark Phenotypes for gene: ATN1 were changed from to Congenital hypotonia, epilepsy, developmental delay, and digital anomalies, MIM#618494
Mendeliome v0.227 ATN1 Zornitza Stark Publications for gene: ATN1 were set to
Intellectual disability syndromic and non-syndromic v0.1289 SVBP Chirag Patel gene: SVBP was added
gene: SVBP was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
Mode of inheritance for gene: SVBP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SVBP were set to PMID: 31363758; 30607023
Phenotypes for gene: SVBP were set to Neurodevelopmental disorder with ataxia, hypotonia, and microcephaly; OMIM #618569
Review for gene: SVBP was set to GREEN
Added comment: 5 unrelated families with homozygous mutations in SVBP. The mutations segregated with the disorder in all families. In vitro functional cellular expression studies showed that protein levels of the SVBP mutants were barely detectable, suggesting instability, and that the mutant proteins had lost VASH/SVBP catalytic detyrosination activity toward tubulin. Knockdown of about 50% Svbp expression using shRNA in rat hippocampal neurons impaired the formation of excitatory synapses compared to controls.
Sources: Literature
Mendeliome v0.226 ATN1 Zornitza Stark Mode of inheritance for gene: ATN1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.225 ATN1 Zornitza Stark reviewed gene: ATN1: Rating: GREEN; Mode of pathogenicity: None; Publications: 30827498; Phenotypes: Congenital hypotonia, epilepsy, developmental delay, and digital anomalies, MIM#618494; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1288 TANC2 Chirag Patel Classified gene: TANC2 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1288 TANC2 Chirag Patel Gene: tanc2 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.27 ATN1 Zornitza Stark Marked gene: ATN1 as ready
Genetic Epilepsy v0.27 ATN1 Zornitza Stark Gene: atn1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.27 ATN1 Zornitza Stark Classified gene: ATN1 as Green List (high evidence)
Genetic Epilepsy v0.27 ATN1 Zornitza Stark Gene: atn1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1287 TANC2 Chirag Patel gene: TANC2 was added
gene: TANC2 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
Mode of inheritance for gene: TANC2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TANC2 were set to PMID: 31616000
Phenotypes for gene: TANC2 were set to no OMIM number yet
Review for gene: TANC2 was set to GREEN
Added comment: 19 families with potentially disruptive heterozygous TANC2 variants, including 16 likely gene-disrupting mutations and three intragenic microdeletions. Patients presented with autism, intellectual disability, delayed language and motor development, epilepsy, facial dysmorphism, with complex psychiatric dysfunction or behavioral problems in adult probands or carrier parents. No functional evidence of specific variants, but they show TANC2 is expressed broadly in the human developing brain, especially in excitatory neurons and glial cells, and shows a more restricted pattern in Drosophila glial cells where its disruption affects behavioral outcomes.
Sources: Literature
Genetic Epilepsy v0.26 ATN1 Zornitza Stark gene: ATN1 was added
gene: ATN1 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Literature
Mode of inheritance for gene: ATN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ATN1 were set to 30827498
Phenotypes for gene: ATN1 were set to Congenital hypotonia, epilepsy, developmental delay, and digital anomalies, MIM#618494
Review for gene: ATN1 was set to GREEN
Added comment: Eight unrelated individuals with de novo heterozygous variants in this gene and syndromic ID; all variants result in substitutions within the highly conserved 16-amino acid histidine-rich 'HX repeat' motif near the C terminus.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1286 ATN1 Zornitza Stark Marked gene: ATN1 as ready
Intellectual disability syndromic and non-syndromic v0.1286 ATN1 Zornitza Stark Gene: atn1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1286 ATN1 Zornitza Stark Classified gene: ATN1 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1286 ATN1 Zornitza Stark Gene: atn1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1285 ATN1 Zornitza Stark gene: ATN1 was added
gene: ATN1 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
Mode of inheritance for gene: ATN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ATN1 were set to 30827498
Phenotypes for gene: ATN1 were set to Congenital hypotonia, epilepsy, developmental delay, and digital anomalies, MIM#618494
Review for gene: ATN1 was set to GREEN
Added comment: Eight unrelated individuals with de novo heterozygous variants in this gene and syndromic ID; all variants result in substitutions within the highly conserved 16-amino acid histidine-rich 'HX repeat' motif near the C terminus.
Sources: Literature
Genetic Epilepsy v0.25 APC2 Zornitza Stark Marked gene: APC2 as ready
Genetic Epilepsy v0.25 APC2 Zornitza Stark Gene: apc2 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.25 APC2 Zornitza Stark Classified gene: APC2 as Green List (high evidence)
Genetic Epilepsy v0.25 APC2 Zornitza Stark Gene: apc2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1284 TARS Chirag Patel Classified gene: TARS as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.1284 TARS Chirag Patel Gene: tars has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.24 APC2 Zornitza Stark gene: APC2 was added
gene: APC2 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Literature
Mode of inheritance for gene: APC2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: APC2 were set to 31585108
Phenotypes for gene: APC2 were set to Cortical dysplasia, complex, with other brain malformations 10, MIM#618677
Review for gene: APC2 was set to GREEN
Added comment: 12 individuals from 8 unrelated families; intellectual disability, seizures, cortical dysplasia including posterior to anterior predominant pattern of lissencephaly, heterotopias, paucity of white matter, thin corpus callosum.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1283 TARS Chirag Patel gene: TARS was added
gene: TARS was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
Mode of inheritance for gene: TARS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TARS were set to PMID: 31374204
Phenotypes for gene: TARS were set to Trichothiodystrophy 7, nonphotosensitive; OMIM #618546
Review for gene: TARS was set to AMBER
Added comment: Clinical features of trichothiodystrophy (TTD) include ichthyosis, intellectual disability, decreased fertility, short stature.

2 unrelated patients with non-photosensitive-TTD, in whom limited clinical information was available (one with DD): one compound heterozygous TARS variants, second homozygous for TARS variant. They showed that the variants had a profound effect on TARS protein stability and enzymatic function.
Sources: Literature
Lissencephaly and Band Heterotopia v0.7 APC2 Zornitza Stark Marked gene: APC2 as ready
Lissencephaly and Band Heterotopia v0.7 APC2 Zornitza Stark Gene: apc2 has been classified as Green List (High Evidence).
Lissencephaly and Band Heterotopia v0.7 APC2 Zornitza Stark Classified gene: APC2 as Green List (high evidence)
Lissencephaly and Band Heterotopia v0.7 APC2 Zornitza Stark Gene: apc2 has been classified as Green List (High Evidence).
Lissencephaly and Band Heterotopia v0.6 APC2 Zornitza Stark gene: APC2 was added
gene: APC2 was added to Lissencephaly and band heterotopia_AustralianGenomics_VCGS. Sources: Literature
Mode of inheritance for gene: APC2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: APC2 were set to 31585108
Phenotypes for gene: APC2 were set to Cortical dysplasia, complex, with other brain malformations 10, MIM#618677
Added comment: 12 individuals from 8 unrelated families; intellectual disability, seizures, cortical dysplasia including posterior to anterior predominant pattern of lissencephaly, heterotopias, paucity of white matter, thin corpus callosum.
Sources: Literature
Mendeliome v0.225 APC2 Zornitza Stark Marked gene: APC2 as ready
Mendeliome v0.225 APC2 Zornitza Stark Gene: apc2 has been classified as Green List (High Evidence).
Mendeliome v0.225 APC2 Zornitza Stark Classified gene: APC2 as Green List (high evidence)
Mendeliome v0.225 APC2 Zornitza Stark Gene: apc2 has been classified as Green List (High Evidence).
Mendeliome v0.224 APC2 Zornitza Stark gene: APC2 was added
gene: APC2 was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: APC2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: APC2 were set to 31585108
Phenotypes for gene: APC2 were set to Cortical dysplasia, complex, with other brain malformations 10, MIM#618677
Review for gene: APC2 was set to GREEN
Added comment: 12 individuals from 8 unrelated families; intellectual disability, seizures, cortical dysplasia including posterior to anterior predominant pattern of lissencephaly, heterotopias, paucity of white matter, thin corpus callosum.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1282 TEMN3-AS1 Chirag Patel changed review comment from: 3 unrelated families, but no functional evidence.
Sources: Literature; to: 3 unrelated families with DD/ID as part of syndromic microphthalmia, but no functional evidence.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1282 TEMN3-AS1 Chirag Patel Classified gene: TEMN3-AS1 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.1282 TEMN3-AS1 Chirag Patel Gene: temn3-as1 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1281 TEMN3-AS1 Chirag Patel gene: TEMN3-AS1 was added
gene: TEMN3-AS1 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
Mode of inheritance for gene: TEMN3-AS1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TEMN3-AS1 were set to PubMed: 27103084; 30513139; 30513139
Phenotypes for gene: TEMN3-AS1 were set to ?Microphthalmia, isolated, with coloboma 9, OMIM #615145; Microphthalmia, syndromic 15, OMIM #615145
Review for gene: TEMN3-AS1 was set to AMBER
Added comment: 3 unrelated families, but no functional evidence.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1280 APC2 Zornitza Stark Marked gene: APC2 as ready
Intellectual disability syndromic and non-syndromic v0.1280 APC2 Zornitza Stark Gene: apc2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1280 APC2 Zornitza Stark Classified gene: APC2 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1280 APC2 Zornitza Stark Gene: apc2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1279 APC2 Zornitza Stark gene: APC2 was added
gene: APC2 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
Mode of inheritance for gene: APC2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: APC2 were set to 31585108
Phenotypes for gene: APC2 were set to Cortical dysplasia, complex, with other brain malformations 10, MIM#618677
Review for gene: APC2 was set to GREEN
Added comment: 12 individuals from 8 unrelated families; intellectual disability, seizures, cortical dysplasia including posterior to anterior predominant pattern of lissencephaly, heterotopias, paucity of white matter, thin corpus callosum.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1278 VAMP2 Chirag Patel Classified gene: VAMP2 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1278 VAMP2 Chirag Patel Gene: vamp2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1277 VAMP2 Chirag Patel gene: VAMP2 was added
gene: VAMP2 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
Mode of inheritance for gene: VAMP2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: VAMP2 were set to PMID: 30929742
Phenotypes for gene: VAMP2 were set to no OMIM number yet
Review for gene: VAMP2 was set to GREEN
Added comment: 5 unrelated patients with heterozygous de novo mutations in VAMP2, presenting with a neurodevelopmental disorder characterized by axial hypotonia, intellectual disability, and autistic features. Affected individuals carrying de novo non-synonymous variants involving the C-terminal region presented a more severe phenotype with additional neurological features, including central visual impairment, hyperkinetic movement disorder, and epilepsy or electroencephalography abnormalities. Reconstituted fusion involving a lipid-mixing assay indicated impairment in vesicle fusion as one of the possible associated disease mechanisms.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1276 ZMIZ1 Chirag Patel Classified gene: ZMIZ1 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1276 ZMIZ1 Chirag Patel Gene: zmiz1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1275 ZMIZ1 Chirag Patel gene: ZMIZ1 was added
gene: ZMIZ1 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
Mode of inheritance for gene: ZMIZ1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ZMIZ1 were set to PubMed: 30639322
Phenotypes for gene: ZMIZ1 were set to Neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies; OMIM #618659
Review for gene: ZMIZ1 was set to GREEN
Added comment: 28 families with spectrum of neurodevelopmental features (including ID, ASD, and ADHD) due to de novo ZNF292 variants (1 family inherited). No functional evidence of specific variants, but ZNF292 is highly expressed in the developing human brain.


14 unrelated patients with neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies, and de novo heterozygous mutations in the ZMIZ1 gene. Transfection of 3 variants (T300M, c.3112dupA, and K91R) into HEK293T cells resulted in decreased induction of luciferase activity compared to wildtype (although the change for K91R was not statistically significant), suggesting impaired coactivation activity of the mutant proteins. Electroporation of these 3 mutants into progenitor cells in the ventricular zone of embryonic mice cortices resulted in defective neuronal migration to the cortex, as well as morphologic abnormalities of the neurons manifest as rounded cells with aberrantly oriented processes. These findings suggested that the ZMIZ1 mutations disrupted proper neuronal polarization and neuronal migration in the developing cortex. Functional studies of the other variants and additional studies of patient cells were not performed.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1274 ZNF292 Chirag Patel Classified gene: ZNF292 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1274 ZNF292 Chirag Patel Gene: znf292 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1273 ZNF292 Chirag Patel gene: ZNF292 was added
gene: ZNF292 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
Mode of inheritance for gene: ZNF292 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ZNF292 were set to PMID: 31723249
Phenotypes for gene: ZNF292 were set to no OMIM number yet
Review for gene: ZNF292 was set to GREEN
Added comment: 28 families with spectrum of neurodevelopmental features (including ID, ASD, and ADHD) due to de novo ZNF292 variants (1 family inherited). No functional evidence of specific variants, but ZNF292 is highly expressed in the developing human brain.
Sources: Literature
Mendeliome v0.223 ALKBH8 Zornitza Stark Marked gene: ALKBH8 as ready
Mendeliome v0.223 ALKBH8 Zornitza Stark Gene: alkbh8 has been classified as Green List (High Evidence).
Mendeliome v0.223 ALKBH8 Zornitza Stark Classified gene: ALKBH8 as Green List (high evidence)
Mendeliome v0.223 ALKBH8 Zornitza Stark Gene: alkbh8 has been classified as Green List (High Evidence).
Mendeliome v0.222 ALKBH8 Zornitza Stark gene: ALKBH8 was added
gene: ALKBH8 was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: ALKBH8 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ALKBH8 were set to 31079898
Phenotypes for gene: ALKBH8 were set to Intellectual developmental disorder, autosomal recessive 71, MIM#618504
Review for gene: ALKBH8 was set to GREEN
Added comment: Two families and functional data.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1272 ALKBH8 Zornitza Stark Marked gene: ALKBH8 as ready
Intellectual disability syndromic and non-syndromic v0.1272 ALKBH8 Zornitza Stark Gene: alkbh8 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1272 ALKBH8 Zornitza Stark Classified gene: ALKBH8 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1272 ALKBH8 Zornitza Stark Gene: alkbh8 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1271 ALKBH8 Zornitza Stark gene: ALKBH8 was added
gene: ALKBH8 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
Mode of inheritance for gene: ALKBH8 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ALKBH8 were set to 31079898
Phenotypes for gene: ALKBH8 were set to Intellectual developmental disorder, autosomal recessive 71, MIM#618504
Review for gene: ALKBH8 was set to GREEN
Added comment: Two families and functional data.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1270 ADGRB3 Zornitza Stark Marked gene: ADGRB3 as ready
Intellectual disability syndromic and non-syndromic v0.1270 ADGRB3 Zornitza Stark Gene: adgrb3 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1270 ADGRB3 Zornitza Stark gene: ADGRB3 was added
gene: ADGRB3 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
Mode of inheritance for gene: ADGRB3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ADGRB3 were set to 30659260; 18628273
Phenotypes for gene: ADGRB3 were set to Intellectual disability
Review for gene: ADGRB3 was set to RED
Added comment: Single family with intragenic bi-allelic duplications and ID reported; association studies with schizophrenia.
Sources: Literature
Mendeliome v0.221 ACTL6B Zornitza Stark Marked gene: ACTL6B as ready
Mendeliome v0.221 ACTL6B Zornitza Stark Gene: actl6b has been classified as Green List (High Evidence).
Mendeliome v0.221 ACTL6B Zornitza Stark Classified gene: ACTL6B as Green List (high evidence)
Mendeliome v0.221 ACTL6B Zornitza Stark Gene: actl6b has been classified as Green List (High Evidence).
Mendeliome v0.220 ACTL6B Zornitza Stark gene: ACTL6B was added
gene: ACTL6B was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: ACTL6B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ACTL6B were set to 31134736; 31031012; 30656450; 30237576
Phenotypes for gene: ACTL6B were set to Epileptic encephalopathy, early infantile, 76, MIM# 618468; Intellectual developmental disorder with severe speech and ambulation defects, MIM# 618470
Review for gene: ACTL6B was set to GREEN
Added comment: Over 10 unrelated individuals reported in the literature.
Sources: Literature
Genetic Epilepsy v0.23 ACTL6B Zornitza Stark Marked gene: ACTL6B as ready
Genetic Epilepsy v0.23 ACTL6B Zornitza Stark Gene: actl6b has been classified as Green List (High Evidence).
Genetic Epilepsy v0.23 ACTL6B Zornitza Stark Classified gene: ACTL6B as Green List (high evidence)
Genetic Epilepsy v0.23 ACTL6B Zornitza Stark Gene: actl6b has been classified as Green List (High Evidence).
Genetic Epilepsy v0.22 ACTL6B Zornitza Stark gene: ACTL6B was added
gene: ACTL6B was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Literature
Mode of inheritance for gene: ACTL6B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ACTL6B were set to 31134736; 31031012; 30656450; 30237576
Phenotypes for gene: ACTL6B were set to Epileptic encephalopathy, early infantile, 76, MIM# 618468; Intellectual developmental disorder with severe speech and ambulation defects, MIM# 618470
Review for gene: ACTL6B was set to GREEN
Added comment: Multiple affected individuals reported, main phenotype is ID/EE.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1269 ACTL6B Zornitza Stark Marked gene: ACTL6B as ready
Intellectual disability syndromic and non-syndromic v0.1269 ACTL6B Zornitza Stark Gene: actl6b has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1269 ACTL6B Zornitza Stark Classified gene: ACTL6B as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1269 ACTL6B Zornitza Stark Gene: actl6b has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1268 ACTL6B Zornitza Stark gene: ACTL6B was added
gene: ACTL6B was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
Mode of inheritance for gene: ACTL6B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ACTL6B were set to 31134736; 31031012; 30656450; 30237576
Phenotypes for gene: ACTL6B were set to Epileptic encephalopathy, early infantile, 76, MIM# 618468; Intellectual developmental disorder with severe speech and ambulation defects, MIM# 618470
Review for gene: ACTL6B was set to GREEN
Added comment: Multiple affected individuals reported, main phenotype is ID/EE.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1267 SP7 Zornitza Stark Marked gene: SP7 as ready
Intellectual disability syndromic and non-syndromic v0.1267 SP7 Zornitza Stark Gene: sp7 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1267 SP7 Zornitza Stark Phenotypes for gene: SP7 were changed from to Osteogenesis imperfecta, type XII; OMIM # 613849
Intellectual disability syndromic and non-syndromic v0.1266 SP7 Zornitza Stark Mode of inheritance for gene: SP7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1265 SPEG Zornitza Stark Marked gene: SPEG as ready
Intellectual disability syndromic and non-syndromic v0.1265 SPEG Zornitza Stark Gene: speg has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1265 SPINK5 Zornitza Stark Marked gene: SPINK5 as ready
Intellectual disability syndromic and non-syndromic v0.1265 SPINK5 Zornitza Stark Gene: spink5 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1265 SPTLC1 Zornitza Stark Marked gene: SPTLC1 as ready
Intellectual disability syndromic and non-syndromic v0.1265 SPTLC1 Zornitza Stark Gene: sptlc1 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1265 SPTLC1 Zornitza Stark Mode of inheritance for gene: SPTLC1 was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1264 ST7 Zornitza Stark Marked gene: ST7 as ready
Intellectual disability syndromic and non-syndromic v0.1264 ST7 Zornitza Stark Gene: st7 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1264 STAC3 Zornitza Stark Marked gene: STAC3 as ready
Intellectual disability syndromic and non-syndromic v0.1264 STAC3 Zornitza Stark Gene: stac3 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1264 STAT5B Zornitza Stark Marked gene: STAT5B as ready
Intellectual disability syndromic and non-syndromic v0.1264 STAT5B Zornitza Stark Gene: stat5b has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1264 STK3 Zornitza Stark Marked gene: STK3 as ready
Intellectual disability syndromic and non-syndromic v0.1264 STK3 Zornitza Stark Gene: stk3 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1264 STT3A Zornitza Stark Phenotypes for gene: STT3A were changed from ?Congenital disorder of glycosylation, type Iw; OMIM #615596 to Congenital disorder of glycosylation, type Iw; OMIM #615596
Intellectual disability syndromic and non-syndromic v0.1263 STT3A Zornitza Stark Publications for gene: STT3A were set to PMID: 23842455
Intellectual disability syndromic and non-syndromic v0.1262 STT3A Zornitza Stark Classified gene: STT3A as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1262 STT3A Zornitza Stark Added comment: Comment on list classification: Two further recent publications identified, bringing the total number of reported families to three.
Intellectual disability syndromic and non-syndromic v0.1262 STT3A Zornitza Stark Gene: stt3a has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v0.3 STT3A Zornitza Stark Marked gene: STT3A as ready
Congenital Disorders of Glycosylation v0.3 STT3A Zornitza Stark Gene: stt3a has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v0.3 STT3A Zornitza Stark Phenotypes for gene: STT3A were changed from to Congenital disorder of glycosylation, type Iw; OMIM #615596
Congenital Disorders of Glycosylation v0.2 STT3A Zornitza Stark Publications for gene: STT3A were set to
Congenital Disorders of Glycosylation v0.1 STT3A Zornitza Stark Mode of inheritance for gene: STT3A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.0 STT3A Zornitza Stark reviewed gene: STT3A: Rating: GREEN; Mode of pathogenicity: None; Publications: 23842455, 30701557, 28424003; Phenotypes: Congenital disorder of glycosylation, type Iw, OMIM #615596; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1261 STT3A Zornitza Stark Marked gene: STT3A as ready
Intellectual disability syndromic and non-syndromic v0.1261 STT3A Zornitza Stark Gene: stt3a has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1261 STT3B Zornitza Stark Marked gene: STT3B as ready
Intellectual disability syndromic and non-syndromic v0.1261 STT3B Zornitza Stark Gene: stt3b has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1261 TAF8 Zornitza Stark Marked gene: TAF8 as ready
Intellectual disability syndromic and non-syndromic v0.1261 TAF8 Zornitza Stark Gene: taf8 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1261 TDGF1 Zornitza Stark Marked gene: TDGF1 as ready
Intellectual disability syndromic and non-syndromic v0.1261 TDGF1 Zornitza Stark Gene: tdgf1 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1261 TDGF1 Zornitza Stark Mode of inheritance for gene: TDGF1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1260 TFAP2A Zornitza Stark Marked gene: TFAP2A as ready
Intellectual disability syndromic and non-syndromic v0.1260 TFAP2A Zornitza Stark Gene: tfap2a has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1260 TFAP2B Zornitza Stark Marked gene: TFAP2B as ready
Intellectual disability syndromic and non-syndromic v0.1260 TFAP2B Zornitza Stark Gene: tfap2b has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1260 TFG Zornitza Stark Marked gene: TFG as ready
Intellectual disability syndromic and non-syndromic v0.1260 TFG Zornitza Stark Gene: tfg has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1260 TG Zornitza Stark Marked gene: TG as ready
Intellectual disability syndromic and non-syndromic v0.1260 TG Zornitza Stark Gene: tg has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1260 TGFBR1 Zornitza Stark Marked gene: TGFBR1 as ready
Intellectual disability syndromic and non-syndromic v0.1260 TGFBR1 Zornitza Stark Gene: tgfbr1 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1260 TGFBR2 Zornitza Stark Marked gene: TGFBR2 as ready
Intellectual disability syndromic and non-syndromic v0.1260 TGFBR2 Zornitza Stark Gene: tgfbr2 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1260 THAP1 Zornitza Stark Marked gene: THAP1 as ready
Intellectual disability syndromic and non-syndromic v0.1260 THAP1 Zornitza Stark Gene: thap1 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1260 TIMM8A Zornitza Stark Marked gene: TIMM8A as ready
Intellectual disability syndromic and non-syndromic v0.1260 TIMM8A Zornitza Stark Gene: timm8a has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1260 TNRC6B Zornitza Stark Marked gene: TNRC6B as ready
Intellectual disability syndromic and non-syndromic v0.1260 TNRC6B Zornitza Stark Gene: tnrc6b has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1260 TP63 Zornitza Stark Marked gene: TP63 as ready
Intellectual disability syndromic and non-syndromic v0.1260 TP63 Zornitza Stark Gene: tp63 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1260 ERLIN2 Zornitza Stark Marked gene: ERLIN2 as ready
Intellectual disability syndromic and non-syndromic v0.1260 ERLIN2 Zornitza Stark Gene: erlin2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1260 TRAPPC6A Zornitza Stark Marked gene: TRAPPC6A as ready
Intellectual disability syndromic and non-syndromic v0.1260 TRAPPC6A Zornitza Stark Gene: trappc6a has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1260 TREM2 Zornitza Stark Marked gene: TREM2 as ready
Intellectual disability syndromic and non-syndromic v0.1260 TREM2 Zornitza Stark Gene: trem2 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1260 TRHR Zornitza Stark Marked gene: TRHR as ready
Intellectual disability syndromic and non-syndromic v0.1260 TRHR Zornitza Stark Gene: trhr has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1260 TRIM37 Zornitza Stark Marked gene: TRIM37 as ready
Intellectual disability syndromic and non-syndromic v0.1260 TRIM37 Zornitza Stark Gene: trim37 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1260 TTC21B Zornitza Stark Marked gene: TTC21B as ready
Intellectual disability syndromic and non-syndromic v0.1260 TTC21B Zornitza Stark Gene: ttc21b has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1260 TTR Zornitza Stark Marked gene: TTR as ready
Intellectual disability syndromic and non-syndromic v0.1260 TTR Zornitza Stark Gene: ttr has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1260 TWNK Zornitza Stark Marked gene: TWNK as ready
Intellectual disability syndromic and non-syndromic v0.1260 TWNK Zornitza Stark Gene: twnk has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1260 UCHL1 Zornitza Stark Marked gene: UCHL1 as ready
Intellectual disability syndromic and non-syndromic v0.1260 UCHL1 Zornitza Stark Gene: uchl1 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1260 UGT1A1 Zornitza Stark Marked gene: UGT1A1 as ready
Intellectual disability syndromic and non-syndromic v0.1260 UGT1A1 Zornitza Stark Gene: ugt1a1 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1260 UNC13D Zornitza Stark Marked gene: UNC13D as ready
Intellectual disability syndromic and non-syndromic v0.1260 UNC13D Zornitza Stark Gene: unc13d has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1260 UQCRB Zornitza Stark Marked gene: UQCRB as ready
Intellectual disability syndromic and non-syndromic v0.1260 UQCRB Zornitza Stark Gene: uqcrb has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1260 UQCRC2 Zornitza Stark Marked gene: UQCRC2 as ready
Intellectual disability syndromic and non-syndromic v0.1260 UQCRC2 Zornitza Stark Gene: uqcrc2 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1260 UQCRQ Zornitza Stark Marked gene: UQCRQ as ready
Intellectual disability syndromic and non-syndromic v0.1260 UQCRQ Zornitza Stark Gene: uqcrq has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1260 VAMP1 Zornitza Stark Marked gene: VAMP1 as ready
Intellectual disability syndromic and non-syndromic v0.1260 VAMP1 Zornitza Stark Gene: vamp1 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1259 VANGL1 Zornitza Stark Marked gene: VANGL1 as ready
Intellectual disability syndromic and non-syndromic v0.1259 VANGL1 Zornitza Stark Gene: vangl1 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1259 VPS45 Zornitza Stark Marked gene: VPS45 as ready
Intellectual disability syndromic and non-syndromic v0.1259 VPS45 Zornitza Stark Gene: vps45 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1259 WASHC4 Zornitza Stark Marked gene: WASHC4 as ready
Intellectual disability syndromic and non-syndromic v0.1259 WASHC4 Zornitza Stark Gene: washc4 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1259 WASHC5 Zornitza Stark Marked gene: WASHC5 as ready
Intellectual disability syndromic and non-syndromic v0.1259 WASHC5 Zornitza Stark Gene: washc5 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1259 WDR11 Zornitza Stark Marked gene: WDR11 as ready
Intellectual disability syndromic and non-syndromic v0.1259 WDR11 Zornitza Stark Gene: wdr11 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1259 WDR13 Zornitza Stark Marked gene: WDR13 as ready
Intellectual disability syndromic and non-syndromic v0.1259 WDR13 Zornitza Stark Gene: wdr13 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1259 WDR19 Zornitza Stark Marked gene: WDR19 as ready
Intellectual disability syndromic and non-syndromic v0.1259 WDR19 Zornitza Stark Gene: wdr19 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1259 WDR34 Zornitza Stark Marked gene: WDR34 as ready
Intellectual disability syndromic and non-syndromic v0.1259 WDR34 Zornitza Stark Gene: wdr34 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1259 WRAP53 Zornitza Stark Marked gene: WRAP53 as ready
Intellectual disability syndromic and non-syndromic v0.1259 WRAP53 Zornitza Stark Gene: wrap53 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1259 ZCCHC12 Zornitza Stark Marked gene: ZCCHC12 as ready
Intellectual disability syndromic and non-syndromic v0.1259 ZCCHC12 Zornitza Stark Gene: zcchc12 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1259 ZDHHC15 Zornitza Stark Marked gene: ZDHHC15 as ready
Intellectual disability syndromic and non-syndromic v0.1259 ZDHHC15 Zornitza Stark Gene: zdhhc15 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1259 ZFP57 Zornitza Stark Marked gene: ZFP57 as ready
Intellectual disability syndromic and non-syndromic v0.1259 ZFP57 Zornitza Stark Gene: zfp57 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1259 ZMYM3 Zornitza Stark Marked gene: ZMYM3 as ready
Intellectual disability syndromic and non-syndromic v0.1259 ZMYM3 Zornitza Stark Gene: zmym3 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1259 ZMYM3 Zornitza Stark Publications for gene: ZMYM3 were set to
Intellectual disability syndromic and non-syndromic v0.1258 ZNF41 Zornitza Stark Marked gene: ZNF41 as ready
Intellectual disability syndromic and non-syndromic v0.1258 ZNF41 Zornitza Stark Gene: znf41 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1258 ZNF41 Zornitza Stark Publications for gene: ZNF41 were set to
Intellectual disability syndromic and non-syndromic v0.1257 ZNF423 Zornitza Stark Marked gene: ZNF423 as ready
Intellectual disability syndromic and non-syndromic v0.1257 ZNF423 Zornitza Stark Gene: znf423 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1257 ZNF507 Zornitza Stark Marked gene: ZNF507 as ready
Intellectual disability syndromic and non-syndromic v0.1257 ZNF507 Zornitza Stark Gene: znf507 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1257 ZNF674 Zornitza Stark Marked gene: ZNF674 as ready
Intellectual disability syndromic and non-syndromic v0.1257 ZNF674 Zornitza Stark Gene: znf674 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1257 ZNF674 Zornitza Stark Publications for gene: ZNF674 were set to
Intellectual disability syndromic and non-syndromic v0.1256 ZNF804A Zornitza Stark Marked gene: ZNF804A as ready
Intellectual disability syndromic and non-syndromic v0.1256 ZNF804A Zornitza Stark Gene: znf804a has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1256 ZNHIT6 Zornitza Stark Marked gene: ZNHIT6 as ready
Intellectual disability syndromic and non-syndromic v0.1256 ZNHIT6 Zornitza Stark Gene: znhit6 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1256 MEGF8 Zornitza Stark Marked gene: MEGF8 as ready
Intellectual disability syndromic and non-syndromic v0.1256 MEGF8 Zornitza Stark Gene: megf8 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1256 MEGF8 Zornitza Stark Publications for gene: MEGF8 were set to
Intellectual disability syndromic and non-syndromic v0.1255 METTL23 Zornitza Stark Marked gene: METTL23 as ready
Intellectual disability syndromic and non-syndromic v0.1255 METTL23 Zornitza Stark Gene: mettl23 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1255 MIR17HG Zornitza Stark Marked gene: MIR17HG as ready
Intellectual disability syndromic and non-syndromic v0.1255 MIR17HG Zornitza Stark Gene: mir17hg has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1255 WASF1 Zornitza Stark Marked gene: WASF1 as ready
Intellectual disability syndromic and non-syndromic v0.1255 WASF1 Zornitza Stark Gene: wasf1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1255 ZNF462 Zornitza Stark Marked gene: ZNF462 as ready
Intellectual disability syndromic and non-syndromic v0.1255 ZNF462 Zornitza Stark Gene: znf462 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1255 RNF135 Zornitza Stark Marked gene: RNF135 as ready
Intellectual disability syndromic and non-syndromic v0.1255 RNF135 Zornitza Stark Gene: rnf135 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1255 ZNF462 Zornitza Stark reviewed gene: ZNF462: Rating: GREEN; Mode of pathogenicity: None; Publications: 31361404, 28513610; Phenotypes: Weiss-Kruszka syndrome, OMIM# 618619; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Intellectual disability syndromic and non-syndromic v0.1255 TTI1 Zornitza Stark Marked gene: TTI1 as ready
Intellectual disability syndromic and non-syndromic v0.1255 TTI1 Zornitza Stark Gene: tti1 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1255 TTI1 Zornitza Stark Phenotypes for gene: TTI1 were changed from intellectual disability; seizures; cerebellar atrophy to Intellectual disability
Intellectual disability syndromic and non-syndromic v0.1254 TTI1 Zornitza Stark Classified gene: TTI1 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.1254 TTI1 Zornitza Stark Gene: tti1 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1253 TTI1 Zornitza Stark gene: TTI1 was added
gene: TTI1 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Expert list
Mode of inheritance for gene: TTI1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TTI1 were set to 26539891; 30315573
Phenotypes for gene: TTI1 were set to intellectual disability; seizures; cerebellar atrophy
Review for gene: TTI1 was set to AMBER
Added comment: Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.1252 SLC25A4 Chirag Patel edited their review of gene: SLC25A4: Changed rating: RED
Intellectual disability syndromic and non-syndromic v0.1252 SLC25A4 Chirag Patel edited their review of gene: SLC25A4: Changed rating: AMBER
Intellectual disability syndromic and non-syndromic v0.1252 SLC25A4 Chirag Patel reviewed gene: SLC25A4: Rating: ; Mode of pathogenicity: None; Publications: PMID: 30013777, 27693233; Phenotypes: Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) AD, OMIM #617184, Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) AR, OMIM #615418, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2, OMIM #609283; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1252 SLC25A4 Zornitza Stark Marked gene: SLC25A4 as ready
Intellectual disability syndromic and non-syndromic v0.1252 SLC25A4 Zornitza Stark Gene: slc25a4 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1252 SLC25A4 Zornitza Stark Phenotypes for gene: SLC25A4 were changed from to Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) AD, MIM#617184; Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) AR, MIM#615418; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2, MIM#609283
Intellectual disability syndromic and non-syndromic v0.1251 SLC25A4 Zornitza Stark Mode of inheritance for gene: SLC25A4 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1250 SLC25A4 Zornitza Stark Classified gene: SLC25A4 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.1250 SLC25A4 Zornitza Stark Gene: slc25a4 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1249 SLC25A4 Zornitza Stark reviewed gene: SLC25A4: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) AD, MIM#617184, Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) AR, MIM#615418, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2, MIM#609283; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1249 SLC29A3 Chirag Patel Classified gene: SLC29A3 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.1249 SLC29A3 Chirag Patel Gene: slc29a3 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1248 SLC29A3 Chirag Patel Source Genetic Health Queensland was removed from SLC29A3.
Source Expert list was added to SLC29A3.
Mode of inheritance for gene SLC29A3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC29A3 were changed from to Histiocytosis-lymphadenopathy plus syndrome; OMIM #602782
Intellectual disability syndromic and non-syndromic v0.1247 SLC29A3 Chirag Patel reviewed gene: SLC29A3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Histiocytosis-lymphadenopathy plus syndrome, OMIM #602782; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1247 SLC2A10 Chirag Patel Classified gene: SLC2A10 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.1247 SLC2A10 Chirag Patel Gene: slc2a10 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1246 SLC2A10 Chirag Patel Source Genetic Health Queensland was removed from SLC2A10.
Source Expert list was added to SLC2A10.
Mode of inheritance for gene SLC2A10 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC2A10 were changed from to Arterial tortuosity syndrome; OMIM #208050
Intellectual disability syndromic and non-syndromic v0.1245 SLC2A10 Chirag Patel reviewed gene: SLC2A10: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Arterial tortuosity syndrome, OMIM #208050; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1245 SLC35A3 Chirag Patel Classified gene: SLC35A3 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.1245 SLC35A3 Chirag Patel Gene: slc35a3 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1244 SLC35A3 Chirag Patel Source Genetic Health Queensland was removed from SLC35A3.
Source Expert list was added to SLC35A3.
Mode of inheritance for gene SLC35A3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC35A3 were changed from to ?Arthrogryposis, mental retardation, and seizures; OMIM #615553
Publications for gene SLC35A3 were changed from PMID: 28328131; 24031089 to PMID: 28328131; 24031089
Intellectual disability syndromic and non-syndromic v0.1243 SLC35A3 Chirag Patel reviewed gene: SLC35A3: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 28328131, 24031089; Phenotypes: ?Arthrogryposis, mental retardation, and seizures, OMIM #615553; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1243 SLC39A4 Chirag Patel Classified gene: SLC39A4 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.1243 SLC39A4 Chirag Patel Gene: slc39a4 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1242 SLC39A4 Chirag Patel Source Genetic Health Queensland was removed from SLC39A4.
Source Expert list was added to SLC39A4.
Mode of inheritance for gene SLC39A4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC39A4 were changed from to Acrodermatitis enteropathica; OMIM #201100
Intellectual disability syndromic and non-syndromic v0.1241 SLC39A4 Chirag Patel reviewed gene: SLC39A4: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Acrodermatitis enteropathica, OMIM #201100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1241 SLC25A20 Zornitza Stark Marked gene: SLC25A20 as ready
Intellectual disability syndromic and non-syndromic v0.1241 SLC25A20 Zornitza Stark Gene: slc25a20 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1241 SLC25A20 Zornitza Stark Phenotypes for gene: SLC25A20 were changed from to Carnitine-acylcarnitine translocase deficiency, MIM#212138
Intellectual disability syndromic and non-syndromic v0.1240 SLC25A20 Zornitza Stark Mode of inheritance for gene: SLC25A20 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1239 SLC25A20 Zornitza Stark Classified gene: SLC25A20 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.1239 SLC25A20 Zornitza Stark Gene: slc25a20 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1238 SLC5A2 Chirag Patel Classified gene: SLC5A2 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.1238 SLC5A2 Chirag Patel Gene: slc5a2 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1237 SLC25A20 Zornitza Stark reviewed gene: SLC25A20: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Carnitine-acylcarnitine translocase deficiency, MIM#212138; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1237 SLC5A2 Chirag Patel Source Genetic Health Queensland was removed from SLC5A2.
Source Expert list was added to SLC5A2.
Mode of inheritance for gene SLC5A2 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: SLC5A2 were changed from to Renal glucosuria; OMIM #233100
Intellectual disability syndromic and non-syndromic v0.1236 SLC5A2 Chirag Patel reviewed gene: SLC5A2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Renal glucosuria, OMIM #233100; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1236 SLC9A7 Chirag Patel Classified gene: SLC9A7 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.1236 SLC9A7 Chirag Patel Gene: slc9a7 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1235 SLC9A7 Chirag Patel Source Genetic Health Queensland was removed from SLC9A7.
Source Expert list was added to SLC9A7.
Mode of inheritance for gene SLC9A7 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: SLC9A7 were changed from to Intellectual developmental disorder, X-linked 108; OMIM #301024
Publications for gene SLC9A7 were changed from PubMed: 30335141 to PubMed: 30335141
Intellectual disability syndromic and non-syndromic v0.1234 SLC9A7 Chirag Patel reviewed gene: SLC9A7: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 30335141; Phenotypes: Intellectual developmental disorder, X-linked 108, OMIM #301024; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Intellectual disability syndromic and non-syndromic v0.1234 SMCHD1 Chirag Patel Classified gene: SMCHD1 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.1234 SMCHD1 Chirag Patel Gene: smchd1 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1233 SLC25A19 Zornitza Stark Marked gene: SLC25A19 as ready
Intellectual disability syndromic and non-syndromic v0.1233 SLC25A19 Zornitza Stark Gene: slc25a19 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1233 SLC25A19 Zornitza Stark Phenotypes for gene: SLC25A19 were changed from to Microcephaly, Amish type, MIM#607196; Thiamine metabolism dysfunction syndrome 4 (progressive polyneuropathy type), MIM#613710
Intellectual disability syndromic and non-syndromic v0.1233 SMCHD1 Chirag Patel Source Genetic Health Queensland was removed from SMCHD1.
Source Expert list was added to SMCHD1.
Mode of inheritance for gene SMCHD1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SMCHD1 were changed from to Bosma arhinia microphthalmia syndrome, OMIM #603457; Fascioscapulohumeral muscular dystrophy 2, digenic; OMIM #158901
Intellectual disability syndromic and non-syndromic v0.1232 SLC25A19 Zornitza Stark Publications for gene: SLC25A19 were set to
Intellectual disability syndromic and non-syndromic v0.1231 SMCHD1 Chirag Patel reviewed gene: SMCHD1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Bosma arhinia microphthalmia syndrome, OMIM #603457, Fascioscapulohumeral muscular dystrophy 2, digenic, OMIM #158901; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1231 SLC25A19 Zornitza Stark Mode of inheritance for gene: SLC25A19 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1230 SLC25A19 Zornitza Stark Classified gene: SLC25A19 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.1230 SLC25A19 Zornitza Stark Gene: slc25a19 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1229 SLC25A19 Zornitza Stark reviewed gene: SLC25A19: Rating: AMBER; Mode of pathogenicity: None; Publications: 31506564, 31295743, 12185364, 19798730; Phenotypes: Microcephaly, Amish type, MIM#607196, Thiamine metabolism dysfunction syndrome 4 (progressive polyneuropathy type), MIM#613710; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1229 SMG6 Chirag Patel Classified gene: SMG6 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.1229 SMG6 Chirag Patel Gene: smg6 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1228 SMG6 Chirag Patel reviewed gene: SMG6: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Intellectual disability syndromic and non-syndromic v0.1228 SNAP25 Chirag Patel Classified gene: SNAP25 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1228 SNAP25 Chirag Patel Gene: snap25 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1227 SNAP25 Chirag Patel gene: SNAP25 was added
gene: SNAP25 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Expert list
Mode of inheritance for gene: SNAP25 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SNAP25 were set to PMID: 25003006; 29100083; 28135719
Phenotypes for gene: SNAP25 were set to ?Myasthenic syndrome, congenital, 18; OMIM #616330
Review for gene: SNAP25 was set to GREEN
Added comment: ID neurodevelopmental disorder rather than muscle disorder, so OMIM entry needs to be edited.
> 5 patients reported.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.1226 SLC25A13 Zornitza Stark Marked gene: SLC25A13 as ready
Intellectual disability syndromic and non-syndromic v0.1226 SLC25A13 Zornitza Stark Gene: slc25a13 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1226 SLC25A13 Zornitza Stark Phenotypes for gene: SLC25A13 were changed from to Citrullinemia, type II, neonatal-onset, MIM#605814
Intellectual disability syndromic and non-syndromic v0.1225 SLC25A13 Zornitza Stark Mode of inheritance for gene: SLC25A13 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1224 SLC25A13 Zornitza Stark Classified gene: SLC25A13 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.1224 SLC25A13 Zornitza Stark Gene: slc25a13 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1223 SLC25A13 Zornitza Stark reviewed gene: SLC25A13: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Citrullinemia, type II, neonatal-onset, MIM#605814; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1223 SLC22A5 Zornitza Stark Marked gene: SLC22A5 as ready
Intellectual disability syndromic and non-syndromic v0.1223 SLC22A5 Zornitza Stark Gene: slc22a5 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1223 SLC22A5 Zornitza Stark Phenotypes for gene: SLC22A5 were changed from to Carnitine deficiency, systemic primary, MIM#212140
Intellectual disability syndromic and non-syndromic v0.1222 SLC22A5 Zornitza Stark Classified gene: SLC22A5 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.1222 SLC22A5 Zornitza Stark Gene: slc22a5 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1221 SLC22A5 Zornitza Stark reviewed gene: SLC22A5: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Carnitine deficiency, systemic primary, MIM#212140; Mode of inheritance: None
Intellectual disability syndromic and non-syndromic v0.1221 SNRPA Chirag Patel Classified gene: SNRPA as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.1221 SNRPA Chirag Patel Gene: snrpa has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1220 SNRPA Chirag Patel Source Genetic Health Queensland was removed from SNRPA.
Source Expert list was added to SNRPA.
Mode of inheritance for gene SNRPA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SNRPA were changed from to no OMIM # yet
Publications for gene SNRPA were changed from PMID: 29437235 to PMID: 29437235
Intellectual disability syndromic and non-syndromic v0.1219 SNRPA Chirag Patel reviewed gene: SNRPA: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 29437235; Phenotypes: no OMIM number yet; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1219 SLC20A2 Zornitza Stark Marked gene: SLC20A2 as ready
Intellectual disability syndromic and non-syndromic v0.1219 SLC20A2 Zornitza Stark Gene: slc20a2 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1219 SLC20A2 Zornitza Stark Phenotypes for gene: SLC20A2 were changed from to Basal ganglia calcification, idiopathic, 1, MIM#213600
Intellectual disability syndromic and non-syndromic v0.1218 SLC20A2 Zornitza Stark Mode of inheritance for gene: SLC20A2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1217 SLC20A2 Zornitza Stark Classified gene: SLC20A2 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.1217 SLC20A2 Zornitza Stark Gene: slc20a2 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1216 SLC20A2 Zornitza Stark reviewed gene: SLC20A2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Basal ganglia calcification, idiopathic, 1, MIM#213600; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1216 SNRPN Chirag Patel Classified gene: SNRPN as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.1216 SNRPN Chirag Patel Gene: snrpn has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1215 SNRPN Chirag Patel Source Genetic Health Queensland was removed from SNRPN.
Source Expert list was added to SNRPN.
Mode of inheritance for gene SNRPN was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Phenotypes for gene: SNRPN were changed from to Prader-Willi syndrome; OMIM #176270
Intellectual disability syndromic and non-syndromic v0.1214 SNRPN Chirag Patel reviewed gene: SNRPN: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Prader-Willi syndrome, OMIM #176270; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Intellectual disability syndromic and non-syndromic v0.1214 SLC1A3 Zornitza Stark Deleted their comment
Intellectual disability syndromic and non-syndromic v0.1214 SLC1A3 Zornitza Stark commented on gene: SLC1A3: ID is not part of the phenotype.
Intellectual disability syndromic and non-syndromic v0.1214 SOST Chirag Patel Classified gene: SOST as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.1214 SOST Chirag Patel Gene: sost has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1213 SOST Chirag Patel Source Genetic Health Queensland was removed from SOST.
Source Expert list was added to SOST.
Mode of inheritance for gene SOST was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SOST were changed from to Craniodiaphyseal dysplasia, autosomal dominant, OMIM #122860; Sclerosteosis 1 , OMIM #269500; Van Buchem disease, OMIM #239100
Intellectual disability syndromic and non-syndromic v0.1212 SOST Chirag Patel reviewed gene: SOST: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Craniodiaphyseal dysplasia, autosomal dominant, OMIM #122860, Sclerosteosis 1 , OMIM #269500, Van Buchem disease, OMIM #239100; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1212 SP7 Chirag Patel Classified gene: SP7 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.1212 SP7 Chirag Patel Gene: sp7 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1211 SP7 Chirag Patel reviewed gene: SP7: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Osteogenesis imperfecta, type XII, OMIM # 613849; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1211 SLC1A3 Zornitza Stark Marked gene: SLC1A3 as ready
Intellectual disability syndromic and non-syndromic v0.1211 SLC1A3 Zornitza Stark Gene: slc1a3 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1211 SLC1A3 Zornitza Stark Phenotypes for gene: SLC1A3 were changed from to Episodic ataxia, type 6, MIM#612656
Intellectual disability syndromic and non-syndromic v0.1210 SLC1A3 Zornitza Stark Mode of inheritance for gene: SLC1A3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1209 SLC1A3 Zornitza Stark Classified gene: SLC1A3 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.1209 SLC1A3 Zornitza Stark Gene: slc1a3 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1208 SLC1A3 Zornitza Stark reviewed gene: SLC1A3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Episodic ataxia, type 6, MIM#612656; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1208 SPART Chirag Patel Source Genetic Health Queensland was removed from SPART.
Source Expert list was added to SPART.
Mode of inheritance for gene SPART was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SPART were changed from to Troyer syndrome; OMIM #275900
Publications for gene SPART were changed from PMID: 26003402; 28679690; 27112432; 20437587; 12134148; 18413476; 31314595; 28875386 to PMID: 26003402; 28679690; 27112432; 20437587; 12134148; 18413476; 31314595; 28875386
Intellectual disability syndromic and non-syndromic v0.1207 SPART Chirag Patel edited their review of gene: SPART: Changed publications: PMID: 26003402, 28679690, 27112432, 20437587, 12134148, 18413476, 31314595, 28875386
Intellectual disability syndromic and non-syndromic v0.1207 SPART Chirag Patel changed review comment from: > 5 families reported, with ID as part of phenotype.; to: Numerous families reported, with ID as part of phenotype.
Intellectual disability syndromic and non-syndromic v0.1207 SPART Chirag Patel reviewed gene: SPART: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 26003402, 28679690, 27112432, 20437587, 12134148, 18413476; Phenotypes: Troyer syndrome, OMIM # 275900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1207 SPEG Chirag Patel Classified gene: SPEG as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.1207 SPEG Chirag Patel Gene: speg has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1206 SPEG Chirag Patel Source Genetic Health Queensland was removed from SPEG.
Source Expert list was added to SPEG.
Mode of inheritance for gene SPEG was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SPEG were changed from to Centronuclear myopathy 5; OMIM #615959
Intellectual disability syndromic and non-syndromic v0.1205 SPEG Chirag Patel reviewed gene: SPEG: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Centronuclear myopathy 5, OMIM #615959; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1205 SLC1A1 Zornitza Stark Marked gene: SLC1A1 as ready
Intellectual disability syndromic and non-syndromic v0.1205 SLC1A1 Zornitza Stark Gene: slc1a1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1205 SLC1A1 Zornitza Stark Phenotypes for gene: SLC1A1 were changed from to Dicarboxylic aminoaciduria, MIM#222730
Intellectual disability syndromic and non-syndromic v0.1204 SLC1A1 Zornitza Stark Mode of inheritance for gene: SLC1A1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1203 SLC1A1 Zornitza Stark reviewed gene: SLC1A1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Dicarboxylic aminoaciduria, MIM#222730; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1203 SLC19A2 Zornitza Stark Marked gene: SLC19A2 as ready
Intellectual disability syndromic and non-syndromic v0.1203 SLC19A2 Zornitza Stark Gene: slc19a2 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1203 SLC19A2 Zornitza Stark Phenotypes for gene: SLC19A2 were changed from to Thiamine-responsive megaloblastic anemia syndrome, MIM#249270
Intellectual disability syndromic and non-syndromic v0.1202 SLC19A2 Zornitza Stark Mode of inheritance for gene: SLC19A2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1201 SLC19A2 Zornitza Stark Classified gene: SLC19A2 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.1201 SLC19A2 Zornitza Stark Gene: slc19a2 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1200 SLC19A2 Zornitza Stark reviewed gene: SLC19A2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Thiamine-responsive megaloblastic anemia syndrome, MIM#249270; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1200 SLC12A1 Zornitza Stark Marked gene: SLC12A1 as ready
Intellectual disability syndromic and non-syndromic v0.1200 SLC12A1 Zornitza Stark Gene: slc12a1 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1200 SLC12A1 Zornitza Stark Phenotypes for gene: SLC12A1 were changed from to Bartter syndrome, type 1, MIM#601678
Intellectual disability syndromic and non-syndromic v0.1199 SLC12A1 Zornitza Stark Mode of inheritance for gene: SLC12A1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1198 SLC12A1 Zornitza Stark Classified gene: SLC12A1 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.1198 SLC12A1 Zornitza Stark Gene: slc12a1 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1197 SLC12A1 Zornitza Stark reviewed gene: SLC12A1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Bartter syndrome, type 1, MIM#601678; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1197 SH3TC2 Zornitza Stark Marked gene: SH3TC2 as ready
Intellectual disability syndromic and non-syndromic v0.1197 SH3TC2 Zornitza Stark Gene: sh3tc2 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1197 SH3TC2 Zornitza Stark Phenotypes for gene: SH3TC2 were changed from to Charcot-Marie-Tooth disease, type 4C, MIM#601596
Intellectual disability syndromic and non-syndromic v0.1196 SH3TC2 Zornitza Stark Mode of inheritance for gene: SH3TC2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1195 SH3TC2 Zornitza Stark Classified gene: SH3TC2 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.1195 SH3TC2 Zornitza Stark Gene: sh3tc2 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1194 SH3TC2 Zornitza Stark reviewed gene: SH3TC2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Charcot-Marie-Tooth disease, type 4C, MIM#601596; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1194 SPG7 Chirag Patel Source Genetic Health Queensland was removed from SPG7.
Source Expert list was added to SPG7.
Mode of inheritance for gene SPG7 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: SPG7 were changed from to Spastic paraplegia 7, autosomal recessive; OMIM #607259
Intellectual disability syndromic and non-syndromic v0.1193 SPG7 Chirag Patel reviewed gene: SPG7: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Spastic paraplegia 7, autosomal recessive, OMIM #607259; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1193 SPINK5 Chirag Patel Classified gene: SPINK5 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.1193 SPINK5 Chirag Patel Gene: spink5 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1192 SPINK5 Chirag Patel Source Genetic Health Queensland was removed from SPINK5.
Source Expert list was added to SPINK5.
Mode of inheritance for gene SPINK5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SPINK5 were changed from to Netherton syndrome; OMIM #256500
Intellectual disability syndromic and non-syndromic v0.1191 SPINK5 Chirag Patel reviewed gene: SPINK5: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Netherton syndrome, OMIM #256500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1191 SPTLC1 Chirag Patel Classified gene: SPTLC1 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.1191 SPTLC1 Chirag Patel Gene: sptlc1 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1190 SPTLC1 Chirag Patel Source Genetic Health Queensland was removed from SPTLC1.
Source Expert list was added to SPTLC1.
Mode of inheritance for gene SPTLC1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SPTLC1 were changed from to Neuropathy, hereditary sensory and autonomic, type IA; OMIM #162400
Intellectual disability syndromic and non-syndromic v0.1189 SPTLC1 Chirag Patel reviewed gene: SPTLC1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Neuropathy, hereditary sensory and autonomic, type IA, OMIM #162400; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1189 ST3GAL5 Chirag Patel Source Genetic Health Queensland was removed from ST3GAL5.
Source Expert list was added to ST3GAL5.
Mode of inheritance for gene ST3GAL5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ST3GAL5 were changed from to Salt and pepper developmental regression syndrome; OMIM #609056
Publications for gene ST3GAL5 were changed from PubMed: 15502825; 22990144; 24026681; 27232954; 30185102; 24026681 to PubMed: 15502825; 22990144; 24026681; 27232954; 30185102; 24026681
Intellectual disability syndromic and non-syndromic v0.1188 ST3GAL5 Chirag Patel reviewed gene: ST3GAL5: Rating: GREEN; Mode of pathogenicity: None; Publications: PubMed: 15502825, 22990144, 24026681, 27232954, 30185102, 24026681; Phenotypes: Salt and pepper developmental regression syndrome, OMIM #609056; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1188 ST7 Chirag Patel Classified gene: ST7 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.1188 ST7 Chirag Patel Gene: st7 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1187 ST7 Chirag Patel reviewed gene: ST7: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Intellectual disability syndromic and non-syndromic v0.1187 STAC3 Chirag Patel Classified gene: STAC3 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.1187 STAC3 Chirag Patel Gene: stac3 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1186 STAC3 Chirag Patel Source Genetic Health Queensland was removed from STAC3.
Source Expert list was added to STAC3.
Mode of inheritance for gene STAC3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: STAC3 were changed from to Myopathy, congenital, Baily-Bloch; OMIM #255995
Intellectual disability syndromic and non-syndromic v0.1185 STAC3 Chirag Patel reviewed gene: STAC3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Myopathy, congenital, Baily-Bloch, OMIM #255995; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1185 STAT5B Chirag Patel Classified gene: STAT5B as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.1185 STAT5B Chirag Patel Gene: stat5b has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1184 STAT5B Chirag Patel Source Genetic Health Queensland was removed from STAT5B.
Source Expert list was added to STAT5B.
Mode of inheritance for gene STAT5B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: STAT5B were changed from to Growth hormone insensitivity with immunodeficiency; OMIM #245590
Intellectual disability syndromic and non-syndromic v0.1183 STAT5B Chirag Patel edited their review of gene: STAT5B: Changed phenotypes: Growth hormone insensitivity with immunodeficiency, OMIM #245590; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1183 STAT5B Chirag Patel reviewed gene: STAT5B: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Intellectual disability syndromic and non-syndromic v0.1183 STK3 Chirag Patel Classified gene: STK3 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.1183 STK3 Chirag Patel Gene: stk3 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1182 STK3 Chirag Patel reviewed gene: STK3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Intellectual disability syndromic and non-syndromic v0.1182 STT3A Chirag Patel Classified gene: STT3A as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.1182 STT3A Chirag Patel Gene: stt3a has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1181 STT3A Chirag Patel Source Genetic Health Queensland was removed from STT3A.
Source Expert list was added to STT3A.
Mode of inheritance for gene STT3A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: STT3A were changed from to ?Congenital disorder of glycosylation, type Iw; OMIM #615596
Publications for gene STT3A were changed from PMID: 23842455 to PMID: 23842455
Intellectual disability syndromic and non-syndromic v0.1180 STT3A Chirag Patel reviewed gene: STT3A: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 23842455; Phenotypes: ?Congenital disorder of glycosylation, type Iw, OMIM #615596; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1180 STT3B Chirag Patel Classified gene: STT3B as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.1180 STT3B Chirag Patel Gene: stt3b has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1179 STT3B Chirag Patel Source Genetic Health Queensland was removed from STT3B.
Source Expert list was added to STT3B.
Mode of inheritance for gene STT3B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: STT3B were changed from to ?Congenital disorder of glycosylation, type Ix; OMIM #615597
Publications for gene STT3B were changed from PMID: 23842455 to PMID: 23842455
Intellectual disability syndromic and non-syndromic v0.1178 STT3B Chirag Patel reviewed gene: STT3B: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 23842455; Phenotypes: ?Congenital disorder of glycosylation, type Ix, OMIM #615597; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1178 SUCLA2 Chirag Patel Source Genetic Health Queensland was removed from SUCLA2.
Source Expert list was added to SUCLA2.
Mode of inheritance for gene SUCLA2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SUCLA2 were changed from to Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria); OMIM #612073
Publications for gene SUCLA2 were changed from PMID: 27913098; 15877282; 23759946; 17287286; 17301081 to PMID: 27913098; 15877282; 23759946; 17287286; 17301081
Intellectual disability syndromic and non-syndromic v0.1177 SUCLA2 Chirag Patel reviewed gene: SUCLA2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 27913098, 15877282, 23759946, 17287286, 17301081; Phenotypes: Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria), OMIM #612073; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1177 SUMF1 Chirag Patel Source Genetic Health Queensland was removed from SUMF1.
Source Expert list was added to SUMF1.
Mode of inheritance for gene SUMF1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SUMF1 were changed from to Multiple sulfatase deficiency; OMIM #272200
Intellectual disability syndromic and non-syndromic v0.1176 SUMF1 Chirag Patel reviewed gene: SUMF1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Multiple sulfatase deficiency, OMIM #272200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1176 SUZ12 Chirag Patel Classified gene: SUZ12 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1176 SUZ12 Chirag Patel Gene: suz12 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1175 SUZ12 Chirag Patel gene: SUZ12 was added
gene: SUZ12 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Expert list
Mode of inheritance for gene: SUZ12 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SUZ12 were set to PMID: 31736240; 30019515; 28229514
Phenotypes for gene: SUZ12 were set to no OMIM number yet.
Review for gene: SUZ12 was set to GREEN
Added comment: Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.1174 SYT1 Chirag Patel Classified gene: SYT1 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1174 SYT1 Chirag Patel Gene: syt1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1173 SYT1 Chirag Patel gene: SYT1 was added
gene: SYT1 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Expert list
Mode of inheritance for gene: SYT1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SYT1 were set to PubMed: 30107533
Phenotypes for gene: SYT1 were set to Baker-Gordon syndrome; OMIM #618218
Review for gene: SYT1 was set to GREEN
Added comment: Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.1172 SGCA Zornitza Stark Marked gene: SGCA as ready
Intellectual disability syndromic and non-syndromic v0.1172 SGCA Zornitza Stark Gene: sgca has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1172 SGCA Zornitza Stark Phenotypes for gene: SGCA were changed from to Muscular dystrophy, limb-girdle, autosomal recessive 3, MIM#608099
Intellectual disability syndromic and non-syndromic v0.1171 SGCA Zornitza Stark Classified gene: SGCA as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.1171 SGCA Zornitza Stark Gene: sgca has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1170 SGCA Zornitza Stark reviewed gene: SGCA: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Muscular dystrophy, limb-girdle, autosomal recessive 3, MIM#608099; Mode of inheritance: None
Intellectual disability syndromic and non-syndromic v0.1170 SFXN4 Zornitza Stark Marked gene: SFXN4 as ready
Intellectual disability syndromic and non-syndromic v0.1170 SFXN4 Zornitza Stark Gene: sfxn4 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1170 SFXN4 Zornitza Stark Phenotypes for gene: SFXN4 were changed from to Combined oxidative phosphorylation deficiency 18, MIM#615578
Intellectual disability syndromic and non-syndromic v0.1169 SFXN4 Zornitza Stark Publications for gene: SFXN4 were set to
Intellectual disability syndromic and non-syndromic v0.1168 SFXN4 Zornitza Stark Mode of inheritance for gene: SFXN4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1167 SFXN4 Zornitza Stark reviewed gene: SFXN4: Rating: GREEN; Mode of pathogenicity: None; Publications: 31059822, 24119684; Phenotypes: Combined oxidative phosphorylation deficiency 18, MIM#615578; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1167 SF3B4 Zornitza Stark Marked gene: SF3B4 as ready
Intellectual disability syndromic and non-syndromic v0.1167 SF3B4 Zornitza Stark Gene: sf3b4 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1167 SF3B4 Zornitza Stark Phenotypes for gene: SF3B4 were changed from to Acrofacial dysostosis 1, Nager type, MIM#154400
Intellectual disability syndromic and non-syndromic v0.1166 SF3B4 Zornitza Stark Mode of inheritance for gene: SF3B4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1165 SF3B4 Zornitza Stark Classified gene: SF3B4 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.1165 SF3B4 Zornitza Stark Gene: sf3b4 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1164 SF3B4 Zornitza Stark reviewed gene: SF3B4: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Acrofacial dysostosis 1, Nager type, MIM#154400; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1164 SEPSECS Zornitza Stark Marked gene: SEPSECS as ready
Intellectual disability syndromic and non-syndromic v0.1164 SEPSECS Zornitza Stark Gene: sepsecs has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1164 SEPSECS Zornitza Stark Phenotypes for gene: SEPSECS were changed from to Pontocerebellar hypoplasia type 2D, MIM#613811
Intellectual disability syndromic and non-syndromic v0.1163 SEPSECS Zornitza Stark Publications for gene: SEPSECS were set to
Intellectual disability syndromic and non-syndromic v0.1162 SEPSECS Zornitza Stark Mode of inheritance for gene: SEPSECS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1161 SEPSECS Zornitza Stark reviewed gene: SEPSECS: Rating: GREEN; Mode of pathogenicity: None; Publications: 12920088, 25044680; Phenotypes: Pontocerebellar hypoplasia type 2D, MIM#613811; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1161 SEMA3E Zornitza Stark reviewed gene: SEMA3E: Rating: AMBER; Mode of pathogenicity: None; Publications: 15235037, 31691538, 31464029; Phenotypes: CHARGE syndrome, MIM#214800; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1161 SELENON Zornitza Stark Marked gene: SELENON as ready
Intellectual disability syndromic and non-syndromic v0.1161 SELENON Zornitza Stark Gene: selenon has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1161 SELENON Zornitza Stark Phenotypes for gene: SELENON were changed from to Muscular dystrophy, rigid spine, 1, MIM# 602771; Myopathy, congenital, with fiber-type disproportion, MIM# 255310
Intellectual disability syndromic and non-syndromic v0.1160 SELENON Zornitza Stark Mode of inheritance for gene: SELENON was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1159 SELENON Zornitza Stark Classified gene: SELENON as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.1159 SELENON Zornitza Stark Gene: selenon has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1158 SELENON Zornitza Stark reviewed gene: SELENON: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Muscular dystrophy, rigid spine, 1, MIM# 602771, Myopathy, congenital, with fiber-type disproportion, MIM# 255310; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1158 SELENOI Zornitza Stark Marked gene: SELENOI as ready
Intellectual disability syndromic and non-syndromic v0.1158 SELENOI Zornitza Stark Gene: selenoi has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1158 SELENOI Zornitza Stark gene: SELENOI was added
gene: SELENOI was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Expert list
Mode of inheritance for gene: SELENOI was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SELENOI were set to 28052917
Phenotypes for gene: SELENOI were set to developmental delay; spasticity; periventricular white mater abnormalities; peripheral neuropathy; seizures; bifid uvula in some affected individuals; microcephaly
Review for gene: SELENOI was set to RED
Added comment: Single family only, four sibs, supportive biochemical evidence. Borderline amber/red gene, only mild ID described, seems to be more of a progressive neurometabolic condition based on limited evidence.
Sources: Expert list
Mendeliome v0.219 SELENOI Zornitza Stark Marked gene: SELENOI as ready
Mendeliome v0.219 SELENOI Zornitza Stark Gene: selenoi has been classified as Amber List (Moderate Evidence).
Mendeliome v0.219 SELENOI Zornitza Stark Phenotypes for gene: SELENOI were changed from to developmental delay; spasticity; periventricular white mater abnormalities; peripheral neuropathy; seizures; bifid uvula in some affected individuals; microcephaly
Mendeliome v0.218 SELENOI Zornitza Stark Publications for gene: SELENOI were set to
Mendeliome v0.218 SELENOI Zornitza Stark Mode of inheritance for gene: SELENOI was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.217 SELENOI Zornitza Stark Classified gene: SELENOI as Amber List (moderate evidence)
Mendeliome v0.217 SELENOI Zornitza Stark Gene: selenoi has been classified as Amber List (Moderate Evidence).
Mendeliome v0.216 SELENOI Zornitza Stark reviewed gene: SELENOI: Rating: AMBER; Mode of pathogenicity: None; Publications: 28052917; Phenotypes: developmental delay, spasticity, periventricular white mater abnormalities, peripheral neuropathy, seizures, bifid uvula in some affected individuals, microcephaly; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Microcephaly v0.30 SELENOI Zornitza Stark Marked gene: SELENOI as ready
Microcephaly v0.30 SELENOI Zornitza Stark Gene: selenoi has been classified as Amber List (Moderate Evidence).
Microcephaly v0.30 SELENOI Zornitza Stark Publications for gene: SELENOI were set to
Microcephaly v0.29 SELENOI Zornitza Stark Phenotypes for gene: SELENOI were changed from to developmental delay; spasticity; periventricular white mater abnormalities; peripheral neuropathy; seizures; microcephaly; bifid uvula in some affected individuals
Microcephaly v0.28 SELENOI Zornitza Stark Mode of inheritance for gene: SELENOI was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Microcephaly v0.27 SELENOI Zornitza Stark Classified gene: SELENOI as Amber List (moderate evidence)
Microcephaly v0.27 SELENOI Zornitza Stark Gene: selenoi has been classified as Amber List (Moderate Evidence).
Microcephaly v0.26 SELENOI Zornitza Stark reviewed gene: SELENOI: Rating: AMBER; Mode of pathogenicity: None; Publications: 28052917; Phenotypes: developmental delay, spasticity, periventricular white mater abnormalities, peripheral neuropathy, seizures, bifid uvula in some affected individuals; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1157 TACO1 Chirag Patel Classified gene: TACO1 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.1157 TACO1 Chirag Patel Gene: taco1 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1156 TACO1 Chirag Patel Source Genetic Health Queensland was removed from TACO1.
Source Expert list was added to TACO1.
Mode of inheritance for gene TACO1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TACO1 were changed from to Mitochondrial complex IV deficiency; OMIM #220110
Publications for gene TACO1 were changed from PubMed: 19503089; 20727754; 25044680 to PubMed: 19503089; 20727754; 25044680
Intellectual disability syndromic and non-syndromic v0.1155 TACO1 Chirag Patel reviewed gene: TACO1: Rating: AMBER; Mode of pathogenicity: None; Publications: PubMed: 19503089, 20727754, 25044680; Phenotypes: Mitochondrial complex IV deficiency, OMIM #220110; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1155 TAF8 Chirag Patel Classified gene: TAF8 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.1155 TAF8 Chirag Patel Gene: taf8 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1154 TAF8 Chirag Patel Source Genetic Health Queensland was removed from TAF8.
Source Expert list was added to TAF8.
Mode of inheritance for gene TAF8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Publications for gene TAF8 were changed from PMID: 29648665 to PMID: 29648665
Intellectual disability syndromic and non-syndromic v0.1153 TAF8 Chirag Patel reviewed gene: TAF8: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 29648665; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1153 TBC1D20 Chirag Patel Deleted their comment
Intellectual disability syndromic and non-syndromic v0.1153 TBC1D20 Chirag Patel edited their review of gene: TBC1D20: Added comment: Liegel et al. (2013) analyzed the candidate gene TBC1D20 and identified homozygous mutations in 7 patients diagnosed with Warburg Micro syndrome from 5 families of different ethnic origins. Evaluation of human fibroblasts deficient in TBC1D20 function identified aberrant lipid droplet formation.; Changed rating: GREEN
Intellectual disability syndromic and non-syndromic v0.1153 TBC1D20 Chirag Patel Source Genetic Health Queensland was removed from TBC1D20.
Source Expert list was added to TBC1D20.
Mode of inheritance for gene TBC1D20 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TBC1D20 were changed from to Warburg micro syndrome 4; OMIM #615663
Publications for gene TBC1D20 were changed from PubMed: 24239381 to PubMed: 24239381
Intellectual disability syndromic and non-syndromic v0.1152 TBC1D20 Chirag Patel reviewed gene: TBC1D20: Rating: RED; Mode of pathogenicity: None; Publications: PubMed: 24239381; Phenotypes: Warburg micro syndrome 4, OMIM #615663; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1152 TCTN3 Chirag Patel Classified gene: TCTN3 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.1152 TCTN3 Chirag Patel Gene: tctn3 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1151 TCTN3 Chirag Patel Source Genetic Health Queensland was removed from TCTN3.
Source Expert list was added to TCTN3.
Mode of inheritance for gene TCTN3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TCTN3 were changed from to Joubert syndrome 18, OMIM #614815; Orofaciodigital syndrome IV, OMIM #258860
Publications for gene TCTN3 were changed from PubMed: 22883145; 25118024; 26092869 to PubMed: 22883145; 25118024; 26092869
Intellectual disability syndromic and non-syndromic v0.1150 TCTN3 Chirag Patel reviewed gene: TCTN3: Rating: AMBER; Mode of pathogenicity: None; Publications: PubMed: 22883145, 25118024, 26092869; Phenotypes: Joubert syndrome 18, OMIM #614815, Orofaciodigital syndrome IV, OMIM #258860; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1150 Zornitza Stark removed gene:SDHD from the panel
Intellectual disability syndromic and non-syndromic v0.1149 TDGF1 Chirag Patel Classified gene: TDGF1 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.1149 TDGF1 Chirag Patel Gene: tdgf1 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1148 TDGF1 Chirag Patel Source Genetic Health Queensland was removed from TDGF1.
Source Expert list was added to TDGF1.
Publications for gene TDGF1 were changed from PMID: 12073012 to PMID: 12073012
Intellectual disability syndromic and non-syndromic v0.1147 TDGF1 Chirag Patel edited their review of gene: TDGF1: Added comment: No OMIM number listed.

1 patient with TDGF1 mutation with midline anomalies of the forebrain. The mutant protein is inactive in a zebrafish rescue assay, indicating a role for TDGF1 in human midline and forebrain development.; Changed publications: PMID: 12073012; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1147 TDGF1 Chirag Patel Deleted their comment
Intellectual disability syndromic and non-syndromic v0.1147 SCN9A Zornitza Stark reviewed gene: SCN9A: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Epilepsy, generalized, with febrile seizures plus, type 7, MIM#613863, HSAN2D, autosomal recessive, MIM#243000; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1147 TDGF1 Chirag Patel reviewed gene: TDGF1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Intellectual disability syndromic and non-syndromic v0.1147 SCN1B Zornitza Stark Marked gene: SCN1B as ready
Intellectual disability syndromic and non-syndromic v0.1147 SCN1B Zornitza Stark Gene: scn1b has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1147 SCN1B Zornitza Stark Phenotypes for gene: SCN1B were changed from to Epileptic encephalopathy, early infantile, 52, MIM#617350
Intellectual disability syndromic and non-syndromic v0.1146 SCN1B Zornitza Stark Mode of inheritance for gene: SCN1B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1145 SCN1B Zornitza Stark reviewed gene: SCN1B: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Epileptic encephalopathy, early infantile, 52, MIM#617350; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1145 TDP2 Chirag Patel Source Genetic Health Queensland was removed from TDP2.
Source Expert list was added to TDP2.
Mode of inheritance for gene TDP2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TDP2 were changed from to Spinocerebellar ataxia, autosomal recessive 23; OMIM #616949
Publications for gene TDP2 were changed from PMID: 31410782; 30109272; 24658003 to PMID: 31410782; 30109272; 24658003
Intellectual disability syndromic and non-syndromic v0.1144 TDP2 Chirag Patel reviewed gene: TDP2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 31410782, 30109272, 24658003; Phenotypes: Spinocerebellar ataxia, autosomal recessive 23, OMIM #616949; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1144 TERT Chirag Patel Source Genetic Health Queensland was removed from TERT.
Source Expert list was added to TERT.
Mode of inheritance for gene TERT was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: TERT were changed from to Dyskeratosis congenita, autosomal dominant 2, OMIM #613989; Dyskeratosis congenita, autosomal recessive 4, OMIM #613989; Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1, OMIM #614742
Intellectual disability syndromic and non-syndromic v0.1143 TERT Chirag Patel reviewed gene: TERT: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Dyskeratosis congenita, autosomal dominant 2, OMIM #613989, Dyskeratosis congenita, autosomal recessive 4, OMIM #613989, Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1, OMIM #614742; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1143 TFAP2A Chirag Patel Deleted their comment
Intellectual disability syndromic and non-syndromic v0.1143 TFAP2A Chirag Patel Classified gene: TFAP2A as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.1143 TFAP2A Chirag Patel Gene: tfap2a has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1142 TFAP2A Chirag Patel Source Genetic Health Queensland was removed from TFAP2A.
Source Expert list was added to TFAP2A.
Mode of inheritance for gene TFAP2A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: TFAP2A were changed from to Branchiooculofacial syndrome; OMIM #113620
Intellectual disability syndromic and non-syndromic v0.1141 TFAP2A Chirag Patel commented on gene: TFAP2A: no ID as part of phenotype.
Intellectual disability syndromic and non-syndromic v0.1141 TFAP2A Chirag Patel reviewed gene: TFAP2A: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Branchiooculofacial syndrome, OMIM #113620; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1141 TFAP2B Chirag Patel Classified gene: TFAP2B as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.1141 TFAP2B Chirag Patel Gene: tfap2b has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1140 TFAP2B Chirag Patel Source Genetic Health Queensland was removed from TFAP2B.
Source Expert list was added to TFAP2B.
Mode of inheritance for gene TFAP2B was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: TFAP2B were changed from to Char syndrome, OMIM #169100; Patent ductus arteriosus 2, OMIM #617035
Intellectual disability syndromic and non-syndromic v0.1139 TFAP2B Chirag Patel reviewed gene: TFAP2B: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Char syndrome, OMIM #169100, Patent ductus arteriosus 2, OMIM #617035; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1139 TFG Chirag Patel Classified gene: TFG as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.1139 TFG Chirag Patel Gene: tfg has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1138 TFG Chirag Patel Source Genetic Health Queensland was removed from TFG.
Source Expert list was added to TFG.
Mode of inheritance for gene TFG was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: TFG were changed from to ?Spastic paraplegia 57, autosomal recessive, OMIM #615658; Hereditary motor and sensory neuropathy, Okinawa type, OMIM #604484
Intellectual disability syndromic and non-syndromic v0.1137 TFG Chirag Patel reviewed gene: TFG: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ?Spastic paraplegia 57, autosomal recessive, OMIM #615658, Hereditary motor and sensory neuropathy, Okinawa type, OMIM #604484; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1137 TG Chirag Patel Classified gene: TG as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.1137 TG Chirag Patel Gene: tg has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1136 TG Chirag Patel Source Genetic Health Queensland was removed from TG.
Source Expert list was added to TG.
Mode of inheritance for gene TG was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TG were changed from to Thyroid dyshormonogenesis 3; OMIM #274700
Intellectual disability syndromic and non-syndromic v0.1135 TG Chirag Patel reviewed gene: TG: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Thyroid dyshormonogenesis 3, OMIM #274700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1135 TGFBR1 Chirag Patel Classified gene: TGFBR1 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.1135 TGFBR1 Chirag Patel Gene: tgfbr1 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1134 TGFBR1 Chirag Patel Source Genetic Health Queensland was removed from TGFBR1.
Source Expert list was added to TGFBR1.
Mode of inheritance for gene TGFBR1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: TGFBR1 were changed from to Loeys-Dietz syndrome 1; OMIM #609192
Intellectual disability syndromic and non-syndromic v0.1133 TGFBR1 Chirag Patel reviewed gene: TGFBR1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Loeys-Dietz syndrome 1, OMIM #609192; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1133 TGFBR2 Chirag Patel Classified gene: TGFBR2 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.1133 TGFBR2 Chirag Patel Gene: tgfbr2 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1132 TGFBR2 Chirag Patel Source Genetic Health Queensland was removed from TGFBR2.
Source Expert list was added to TGFBR2.
Mode of inheritance for gene TGFBR2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: TGFBR2 were changed from to Loeys-Dietz syndrome 2; OMIM #610168
Intellectual disability syndromic and non-syndromic v0.1131 TGFBR2 Chirag Patel reviewed gene: TGFBR2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Loeys-Dietz syndrome 2, OMIM #610168; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1131 THAP1 Chirag Patel Classified gene: THAP1 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.1131 THAP1 Chirag Patel Gene: thap1 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1130 THAP1 Chirag Patel Source Genetic Health Queensland was removed from THAP1.
Source Expert list was added to THAP1.
Mode of inheritance for gene THAP1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: THAP1 were changed from to Dystonia 6, torsion; OMIM #602629
Intellectual disability syndromic and non-syndromic v0.1129 THAP1 Chirag Patel reviewed gene: THAP1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Dystonia 6, torsion, OMIM #602629; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1129 TIMM8A Chirag Patel Classified gene: TIMM8A as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.1129 TIMM8A Chirag Patel Gene: timm8a has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1128 TIMM8A Chirag Patel Source Genetic Health Queensland was removed from TIMM8A.
Source Expert list was added to TIMM8A.
Mode of inheritance for gene TIMM8A was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: TIMM8A were changed from to Mohr-Tranebjaerg syndrome; OMIM #304700
Intellectual disability syndromic and non-syndromic v0.1127 TIMM8A Chirag Patel reviewed gene: TIMM8A: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Mohr-Tranebjaerg syndrome, OMIM #304700; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Intellectual disability syndromic and non-syndromic v0.1127 TKT Chirag Patel Source Genetic Health Queensland was removed from TKT.
Source Expert list was added to TKT.
Mode of inheritance for gene TKT was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TKT were changed from to Short stature, developmental delay, and congenital heart defects; OMIM #617044
Publications for gene TKT were changed from PubMed: 27259054 to PubMed: 27259054
Intellectual disability syndromic and non-syndromic v0.1126 TKT Chirag Patel reviewed gene: TKT: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 27259054; Phenotypes: Short stature, developmental delay, and congenital heart defects, OMIM #617044; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1126 TNRC6B Chirag Patel Classified gene: TNRC6B as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.1126 TNRC6B Chirag Patel Gene: tnrc6b has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1125 SCN11A Zornitza Stark Marked gene: SCN11A as ready
Intellectual disability syndromic and non-syndromic v0.1125 SCN11A Zornitza Stark Gene: scn11a has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1125 SCN11A Zornitza Stark Phenotypes for gene: SCN11A were changed from to Neuropathy, hereditary sensory and autonomic, type VII, MIM#615548
Intellectual disability syndromic and non-syndromic v0.1124 SCN11A Zornitza Stark Mode of inheritance for gene: SCN11A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1123 SCN11A Zornitza Stark Classified gene: SCN11A as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.1123 SCN11A Zornitza Stark Gene: scn11a has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1122 SCN11A Zornitza Stark reviewed gene: SCN11A: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Neuropathy, hereditary sensory and autonomic, type VII, MIM#615548; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1122 SBF1 Zornitza Stark Marked gene: SBF1 as ready
Intellectual disability syndromic and non-syndromic v0.1122 SBF1 Zornitza Stark Gene: sbf1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1122 SBF1 Zornitza Stark Phenotypes for gene: SBF1 were changed from to Charcot-Marie-Tooth disease, type 4B3, MIM# 615284
Intellectual disability syndromic and non-syndromic v0.1121 SBF1 Zornitza Stark Publications for gene: SBF1 were set to
Intellectual disability syndromic and non-syndromic v0.1120 SBF1 Zornitza Stark Mode of inheritance for gene: SBF1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1119 SBF1 Zornitza Stark reviewed gene: SBF1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24799518, 23749797, 30039846, 28902413; Phenotypes: Charcot-Marie-Tooth disease, type 4B3, MIM# 615284; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1119 SBDS Zornitza Stark Marked gene: SBDS as ready
Intellectual disability syndromic and non-syndromic v0.1119 SBDS Zornitza Stark Gene: sbds has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1119 SBDS Zornitza Stark Phenotypes for gene: SBDS were changed from to Shwachman-Diamond syndrome, MIM#260400
Intellectual disability syndromic and non-syndromic v0.1118 SBDS Zornitza Stark Publications for gene: SBDS were set to
Intellectual disability syndromic and non-syndromic v0.1117 SBDS Zornitza Stark Mode of inheritance for gene: SBDS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1116 SBDS Zornitza Stark Classified gene: SBDS as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.1116 SBDS Zornitza Stark Gene: sbds has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1115 SBDS Zornitza Stark reviewed gene: SBDS: Rating: RED; Mode of pathogenicity: None; Publications: 19906387; Phenotypes: Shwachman-Diamond syndrome, MIM#260400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1115 SARS2 Zornitza Stark Marked gene: SARS2 as ready
Intellectual disability syndromic and non-syndromic v0.1115 SARS2 Zornitza Stark Gene: sars2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1115 SARS2 Zornitza Stark Phenotypes for gene: SARS2 were changed from to Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis, MIM#613845
Intellectual disability syndromic and non-syndromic v0.1114 SARS2 Zornitza Stark Publications for gene: SARS2 were set to
Intellectual disability syndromic and non-syndromic v0.1113 SARS2 Zornitza Stark Mode of inheritance for gene: SARS2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1112 SARS2 Zornitza Stark reviewed gene: SARS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 21255763, 24034276; Phenotypes: Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis, MIM#613845; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1112 SALL1 Zornitza Stark Marked gene: SALL1 as ready
Intellectual disability syndromic and non-syndromic v0.1112 SALL1 Zornitza Stark Gene: sall1 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1112 SALL1 Zornitza Stark Phenotypes for gene: SALL1 were changed from to Townes-Brocks syndrome 1, MIM#107480
Intellectual disability syndromic and non-syndromic v0.1111 SALL1 Zornitza Stark Mode of inheritance for gene: SALL1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1110 SALL1 Zornitza Stark Classified gene: SALL1 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.1110 SALL1 Zornitza Stark Gene: sall1 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1109 SALL1 Zornitza Stark reviewed gene: SALL1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Townes-Brocks syndrome 1, MIM#107480; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1109 RUBCN Zornitza Stark Marked gene: RUBCN as ready
Intellectual disability syndromic and non-syndromic v0.1109 RUBCN Zornitza Stark Gene: rubcn has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1109 RUBCN Zornitza Stark Phenotypes for gene: RUBCN were changed from to Spinocerebellar ataxia, autosomal recessive 15, MIM#615705
Intellectual disability syndromic and non-syndromic v0.1108 RUBCN Zornitza Stark Publications for gene: RUBCN were set to
Intellectual disability syndromic and non-syndromic v0.1107 RUBCN Zornitza Stark Classified gene: RUBCN as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.1107 RUBCN Zornitza Stark Gene: rubcn has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1106 RUBCN Zornitza Stark reviewed gene: RUBCN: Rating: RED; Mode of pathogenicity: None; Publications: 30237576, 20826435, 23728897; Phenotypes: Spinocerebellar ataxia, autosomal recessive 15, MIM#615705; Mode of inheritance: None
Intellectual disability syndromic and non-syndromic v0.1106 RTN4IP1 Zornitza Stark Phenotypes for gene: RTN4IP1 were changed from to Optic atrophy 10 with or without ataxia, mental retardation, and seizures, MIM#616732
Intellectual disability syndromic and non-syndromic v0.1105 RTN4IP1 Zornitza Stark Publications for gene: RTN4IP1 were set to
Intellectual disability syndromic and non-syndromic v0.1104 RTN4IP1 Zornitza Stark Mode of inheritance for gene: RTN4IP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1103 RTN4IP1 Zornitza Stark reviewed gene: RTN4IP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 26593267; Phenotypes: Optic atrophy 10 with or without ataxia, mental retardation, and seizures, MIM#616732; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1103 RPS28 Zornitza Stark Marked gene: RPS28 as ready
Intellectual disability syndromic and non-syndromic v0.1103 RPS28 Zornitza Stark Gene: rps28 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1103 RPS28 Zornitza Stark Phenotypes for gene: RPS28 were changed from to Diamond Blackfan anemia 15 with mandibulofacial dysostosis, MIM#606164
Intellectual disability syndromic and non-syndromic v0.1102 RPS28 Zornitza Stark Mode of inheritance for gene: RPS28 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1101 RPS28 Zornitza Stark Classified gene: RPS28 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.1101 RPS28 Zornitza Stark Gene: rps28 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1100 RPS28 Zornitza Stark reviewed gene: RPS28: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Diamond Blackfan anemia 15 with mandibulofacial dysostosis, MIM#606164; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1100 RPS19 Zornitza Stark Marked gene: RPS19 as ready
Intellectual disability syndromic and non-syndromic v0.1100 RPS19 Zornitza Stark Gene: rps19 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1100 RPS19 Zornitza Stark Phenotypes for gene: RPS19 were changed from to Diamond-Blackfan anemia 1, MIM#105650
Intellectual disability syndromic and non-syndromic v0.1099 RPS19 Zornitza Stark Mode of inheritance for gene: RPS19 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1098 RPS19 Zornitza Stark Classified gene: RPS19 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.1098 RPS19 Zornitza Stark Gene: rps19 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1097 RPS19 Zornitza Stark reviewed gene: RPS19: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Diamond-Blackfan anemia 1, MIM#105650; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1097 RPL11 Zornitza Stark Marked gene: RPL11 as ready
Intellectual disability syndromic and non-syndromic v0.1097 RPL11 Zornitza Stark Gene: rpl11 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1097 RPL11 Zornitza Stark Phenotypes for gene: RPL11 were changed from to Diamond-Blackfan anemia 7, MIM#612562
Intellectual disability syndromic and non-syndromic v0.1096 RPL11 Zornitza Stark Mode of inheritance for gene: RPL11 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1095 RPL11 Zornitza Stark Classified gene: RPL11 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.1095 RPL11 Zornitza Stark Gene: rpl11 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1094 RPL11 Zornitza Stark reviewed gene: RPL11: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Diamond-Blackfan anemia 7, MIM#612562; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1094 RORA Zornitza Stark Marked gene: RORA as ready
Intellectual disability syndromic and non-syndromic v0.1094 RORA Zornitza Stark Gene: rora has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1094 RORA Zornitza Stark Classified gene: RORA as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1094 RORA Zornitza Stark Gene: rora has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1093 RORA Zornitza Stark gene: RORA was added
gene: RORA was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Expert list
Mode of inheritance for gene: RORA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RORA were set to 29656859
Phenotypes for gene: RORA were set to Intellectual developmental disorder with or without epilepsy or cerebellar ataxia, MIM#618060
Mode of pathogenicity for gene: RORA was set to Other
Review for gene: RORA was set to GREEN
Added comment: Eleven unrelated individuals with de novo variants in this gene; postulated that some variants exert dominant-negative effect resulting in a more severe phenotype than the LoF variants.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.1092 RNU4ATAC Zornitza Stark Marked gene: RNU4ATAC as ready
Intellectual disability syndromic and non-syndromic v0.1092 RNU4ATAC Zornitza Stark Gene: rnu4atac has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1092 RNU4ATAC Zornitza Stark Phenotypes for gene: RNU4ATAC were changed from to Microcephalic osteodysplastic primordial dwarfism, type I, MIM#210710; Roifman syndrome, MIM#616651
Intellectual disability syndromic and non-syndromic v0.1091 RNU4ATAC Zornitza Stark Mode of inheritance for gene: RNU4ATAC was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1090 RNU4ATAC Zornitza Stark reviewed gene: RNU4ATAC: Rating: GREEN; Mode of pathogenicity: Other; Publications: ; Phenotypes: Microcephalic osteodysplastic primordial dwarfism, type I, MIM#210710, Roifman syndrome, MIM#616651; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1090 RMRP Zornitza Stark Marked gene: RMRP as ready
Intellectual disability syndromic and non-syndromic v0.1090 RMRP Zornitza Stark Gene: rmrp has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1090 RMRP Zornitza Stark Phenotypes for gene: RMRP were changed from to Anauxetic dysplasia 1, MIM#607095
Intellectual disability syndromic and non-syndromic v0.1089 RMRP Zornitza Stark Mode of inheritance for gene: RMRP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1088 RMRP Zornitza Stark Classified gene: RMRP as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.1088 RMRP Zornitza Stark Gene: rmrp has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1087 RMRP Zornitza Stark reviewed gene: RMRP: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Anauxetic dysplasia 1, MIM#607095; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1087 RIN2 Zornitza Stark Marked gene: RIN2 as ready
Intellectual disability syndromic and non-syndromic v0.1087 RIN2 Zornitza Stark Gene: rin2 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1087 RIN2 Zornitza Stark Phenotypes for gene: RIN2 were changed from to Macrocephaly, alopecia, cutis laxa, and scoliosis, MIM#613075
Intellectual disability syndromic and non-syndromic v0.1086 RIN2 Zornitza Stark Mode of inheritance for gene: RIN2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1085 RIN2 Zornitza Stark Classified gene: RIN2 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.1085 RIN2 Zornitza Stark Gene: rin2 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1084 RIN2 Zornitza Stark reviewed gene: RIN2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Macrocephaly, alopecia, cutis laxa, and scoliosis, MIM#613075; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.21 RHOBTB2 Zornitza Stark Marked gene: RHOBTB2 as ready
Genetic Epilepsy v0.21 RHOBTB2 Zornitza Stark Gene: rhobtb2 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.21 RHOBTB2 Zornitza Stark Phenotypes for gene: RHOBTB2 were changed from to Epileptic encephalopathy, early infantile, 64, MIM#618004
Genetic Epilepsy v0.20 RHOBTB2 Zornitza Stark Publications for gene: RHOBTB2 were set to
Genetic Epilepsy v0.19 RHOBTB2 Zornitza Stark Mode of inheritance for gene: RHOBTB2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.18 RHOBTB2 Zornitza Stark reviewed gene: RHOBTB2: Rating: GREEN; Mode of pathogenicity: None; Publications: 29768694, 29276004; Phenotypes: Epileptic encephalopathy, early infantile, 64, MIM#618004; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1084 RHOBTB2 Zornitza Stark Marked gene: RHOBTB2 as ready
Intellectual disability syndromic and non-syndromic v0.1084 RHOBTB2 Zornitza Stark Gene: rhobtb2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1084 RHOBTB2 Zornitza Stark Classified gene: RHOBTB2 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1084 RHOBTB2 Zornitza Stark Gene: rhobtb2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1083 RHOBTB2 Zornitza Stark gene: RHOBTB2 was added
gene: RHOBTB2 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
Mode of inheritance for gene: RHOBTB2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RHOBTB2 were set to 29768694; 29276004
Phenotypes for gene: RHOBTB2 were set to Epileptic encephalopathy, early infantile, 64, MIM#618004
Review for gene: RHOBTB2 was set to GREEN
Added comment: 13 individuals from unrelated families reported in the literature in 2018 with de novo variants in this gene and ID/EE.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1082 RFX6 Zornitza Stark Marked gene: RFX6 as ready
Intellectual disability syndromic and non-syndromic v0.1082 RFX6 Zornitza Stark Gene: rfx6 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1082 RFX6 Zornitza Stark Phenotypes for gene: RFX6 were changed from to Mitchell-Riley syndrome, MIM#615710
Intellectual disability syndromic and non-syndromic v0.1081 RFX6 Zornitza Stark Mode of inheritance for gene: RFX6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1080 RFX6 Zornitza Stark Classified gene: RFX6 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.1080 RFX6 Zornitza Stark Gene: rfx6 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1079 RFX6 Zornitza Stark reviewed gene: RFX6: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitchell-Riley syndrome, MIM#615710; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1079 RET Zornitza Stark Marked gene: RET as ready
Intellectual disability syndromic and non-syndromic v0.1079 RET Zornitza Stark Gene: ret has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1079 RET Zornitza Stark Phenotypes for gene: RET were changed from to Central hypoventilation syndrome, congenital, MIM#209880; Medullary thyroid carcinoma, MIM#155240; Multiple endocrine neoplasia IIA, MIM#171400; Multiple endocrine neoplasia IIB, MIM#162300
Intellectual disability syndromic and non-syndromic v0.1078 RET Zornitza Stark Mode of inheritance for gene: RET was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1077 RET Zornitza Stark Classified gene: RET as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.1077 RET Zornitza Stark Gene: ret has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1076 RET Zornitza Stark reviewed gene: RET: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Central hypoventilation syndrome, congenital, MIM#209880, Medullary thyroid carcinoma, MIM#155240, Multiple endocrine neoplasia IIA, MIM#171400, Multiple endocrine neoplasia IIB, MIM#162300; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1076 RECQL4 Zornitza Stark Marked gene: RECQL4 as ready
Intellectual disability syndromic and non-syndromic v0.1076 RECQL4 Zornitza Stark Gene: recql4 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1076 RECQL4 Zornitza Stark Phenotypes for gene: RECQL4 were changed from to Baller-Gerold syndrome, MIM#218600; RAPADILINO syndrome, MIM#266280; Rothmund-Thomson syndrome, type 2,MIM#268400
Intellectual disability syndromic and non-syndromic v0.1075 RECQL4 Zornitza Stark Mode of inheritance for gene: RECQL4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1074 RECQL4 Zornitza Stark Classified gene: RECQL4 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.1074 RECQL4 Zornitza Stark Gene: recql4 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1073 RECQL4 Zornitza Stark reviewed gene: RECQL4: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Baller-Gerold syndrome, MIM#218600, RAPADILINO syndrome, MIM#266280, Rothmund-Thomson syndrome, type 2,MIM#268400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1073 RBPJ Zornitza Stark Marked gene: RBPJ as ready
Intellectual disability syndromic and non-syndromic v0.1073 RBPJ Zornitza Stark Gene: rbpj has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1073 RBPJ Zornitza Stark Phenotypes for gene: RBPJ were changed from to Adams-Oliver syndrome 3, MIM#614814
Intellectual disability syndromic and non-syndromic v0.1072 RBPJ Zornitza Stark Publications for gene: RBPJ were set to
Intellectual disability syndromic and non-syndromic v0.1071 RBPJ Zornitza Stark Classified gene: RBPJ as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.1071 RBPJ Zornitza Stark Gene: rbpj has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1070 RBPJ Zornitza Stark reviewed gene: RBPJ: Rating: RED; Mode of pathogenicity: None; Publications: 22883147, 29924900; Phenotypes: Adams-Oliver syndrome 3, MIM#614814; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1070 RBM8A Zornitza Stark Marked gene: RBM8A as ready
Intellectual disability syndromic and non-syndromic v0.1070 RBM8A Zornitza Stark Gene: rbm8a has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1070 RBM8A Zornitza Stark Phenotypes for gene: RBM8A were changed from to Thrombocytopenia-absent radius syndrome, MIM#274000
Intellectual disability syndromic and non-syndromic v0.1069 RBM8A Zornitza Stark Mode of inheritance for gene: RBM8A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1068 RBM8A Zornitza Stark Classified gene: RBM8A as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.1068 RBM8A Zornitza Stark Gene: rbm8a has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1067 RBM8A Zornitza Stark reviewed gene: RBM8A: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Thrombocytopenia-absent radius syndrome, MIM#274000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1067 TMEM231 Chirag Patel Classified gene: TMEM231 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.1067 TMEM231 Chirag Patel Gene: tmem231 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1066 TMEM231 Chirag Patel Source Genetic Health Queensland was removed from TMEM231.
Source Expert list was added to TMEM231.
Mode of inheritance for gene TMEM231 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TMEM231 were changed from to Joubert syndrome 20, OMIM #614970; Meckel syndrome 11, OMIM #615397
Publications for gene TMEM231 were changed from PMID: 23012439 to PMID: 23012439
Intellectual disability syndromic and non-syndromic v0.1065 TMEM231 Chirag Patel reviewed gene: TMEM231: Rating: AMBER; Mode of pathogenicity: None; Publications: PubMed: 23012439; Phenotypes: Joubert syndrome 20, OMIM #614970, Meckel syndrome 11, OMIM #615397; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1065 TP63 Chirag Patel Source Genetic Health Queensland was removed from TP63.
Source Expert list was added to TP63.
Mode of inheritance for gene TP63 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: TP63 were changed from to ADULT syndrome, OMIM #103285; Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3, OMIM #604292; Hay-Wells syndrome, OMIM #106260; Limb-mammary syndrome, OMIM #603543; Orofacial cleft 8, OMIM #618149; Rapp-Hodgkin syndrome, OMIM #129400; Split-hand/foot malformation 4, OMIM #605289
Intellectual disability syndromic and non-syndromic v0.1064 TP63 Chirag Patel Classified gene: TP63 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.1064 TP63 Chirag Patel Gene: tp63 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1063 TP63 Chirag Patel reviewed gene: TP63: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ADULT syndrome, OMIM #103285, Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3, OMIM #604292, Hay-Wells syndrome, OMIM #106260, Limb-mammary syndrome, OMIM #603543, Orofacial cleft 8, OMIM #618149, Rapp-Hodgkin syndrome, OMIM #129400, Split-hand/foot malformation 4, OMIM #605289; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1063 TPP1 Chirag Patel Source Genetic Health Queensland was removed from TPP1.
Source Expert list was added to TPP1.
Mode of inheritance for gene TPP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TPP1 were changed from to Ceroid lipofuscinosis, neuronal, 2, OMIM #204500; Spinocerebellar ataxia, autosomal recessive 7, OMIM #609270
Intellectual disability syndromic and non-syndromic v0.1062 TPP1 Chirag Patel reviewed gene: TPP1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Ceroid lipofuscinosis, neuronal, 2, OMIM #204500, Spinocerebellar ataxia, autosomal recessive 7, OMIM #609270; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1062 TRAF7 Chirag Patel Classified gene: TRAF7 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1062 TRAF7 Chirag Patel Gene: traf7 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1061 TRAF7 Chirag Patel reviewed gene: TRAF7: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 29961569; Phenotypes: Cardiac, facial, and digital anomalies with developmental delay, OMIM #618164; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1061 TRAF7 Chirag Patel gene: TRAF7 was added
gene: TRAF7 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Expert list
Mode of inheritance for gene: TRAF7 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TRAF7 were set to PMID: 29961569
Phenotypes for gene: TRAF7 were set to Cardiac, facial, and digital anomalies with developmental delay; OMIM #618164
Intellectual disability syndromic and non-syndromic v0.1060 TRAPPC11 Chirag Patel Source Genetic Health Queensland was removed from TRAPPC11.
Source Expert list was added to TRAPPC11.
Mode of inheritance for gene TRAPPC11 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TRAPPC11 were changed from to Muscular dystrophy, limb-girdle, autosomal recessive 18; OMIM #615356
Publications for gene TRAPPC11 were changed from PMID: 23830518; 27707803 to PMID: 23830518; 27707803
Intellectual disability syndromic and non-syndromic v0.1059 TRAPPC11 Chirag Patel reviewed gene: TRAPPC11: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 23830518, 27707803; Phenotypes: Muscular dystrophy, limb-girdle, autosomal recessive 18, OMIM #615356; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1059 TRAPPC6A Chirag Patel Classified gene: TRAPPC6A as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.1059 TRAPPC6A Chirag Patel Gene: trappc6a has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1058 TRAPPC6A Chirag Patel reviewed gene: TRAPPC6A: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Intellectual disability syndromic and non-syndromic v0.1058 RBM28 Zornitza Stark Marked gene: RBM28 as ready
Intellectual disability syndromic and non-syndromic v0.1058 RBM28 Zornitza Stark Gene: rbm28 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1058 RBM28 Zornitza Stark Phenotypes for gene: RBM28 were changed from to Alopecia, neurologic defects, and endocrinopathy syndrome, MIM#612079
Intellectual disability syndromic and non-syndromic v0.1057 RBM28 Zornitza Stark Publications for gene: RBM28 were set to
Intellectual disability syndromic and non-syndromic v0.1056 RBM28 Zornitza Stark Mode of inheritance for gene: RBM28 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1055 RBM28 Zornitza Stark Classified gene: RBM28 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.1055 RBM28 Zornitza Stark Gene: rbm28 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1054 RBM28 Zornitza Stark reviewed gene: RBM28: Rating: RED; Mode of pathogenicity: None; Publications: 18439547; Phenotypes: Alopecia, neurologic defects, and endocrinopathy syndrome, MIM#612079; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1054 RAPSN Zornitza Stark Marked gene: RAPSN as ready
Intellectual disability syndromic and non-syndromic v0.1054 RAPSN Zornitza Stark Gene: rapsn has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1054 RAPSN Zornitza Stark Phenotypes for gene: RAPSN were changed from to Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency, MIM#616326
Intellectual disability syndromic and non-syndromic v0.1053 RAPSN Zornitza Stark Mode of inheritance for gene: RAPSN was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1052 RAPSN Zornitza Stark Classified gene: RAPSN as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.1052 RAPSN Zornitza Stark Gene: rapsn has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1051 RAPSN Zornitza Stark reviewed gene: RAPSN: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency, MIM#616326; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1051 RANBP2 Zornitza Stark Marked gene: RANBP2 as ready
Intellectual disability syndromic and non-syndromic v0.1051 RANBP2 Zornitza Stark Gene: ranbp2 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1051 RANBP2 Zornitza Stark Phenotypes for gene: RANBP2 were changed from to Encephalopathy, acute, infection-induced, 3, susceptibility to, MIM# 608033
Intellectual disability syndromic and non-syndromic v0.1050 RANBP2 Zornitza Stark Mode of inheritance for gene: RANBP2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1049 RANBP2 Zornitza Stark Classified gene: RANBP2 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.1049 RANBP2 Zornitza Stark Gene: ranbp2 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1048 RANBP2 Zornitza Stark reviewed gene: RANBP2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Encephalopathy, acute, infection-induced, 3, susceptibility to, MIM# 608033; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1048 RAC3 Zornitza Stark Marked gene: RAC3 as ready
Intellectual disability syndromic and non-syndromic v0.1048 RAC3 Zornitza Stark Gene: rac3 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1048 RAC3 Zornitza Stark Phenotypes for gene: RAC3 were changed from to Neurodevelopmental disorder with structural brain anomalies and dysmorphic facies, MIM#618577
Intellectual disability syndromic and non-syndromic v0.1047 RAC3 Zornitza Stark Publications for gene: RAC3 were set to
Intellectual disability syndromic and non-syndromic v0.1046 RAC3 Zornitza Stark Mode of inheritance for gene: RAC3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1045 RAC3 Zornitza Stark reviewed gene: RAC3: Rating: ; Mode of pathogenicity: None; Publications: 30293988, 29276006; Phenotypes: Neurodevelopmental disorder with structural brain anomalies and dysmorphic facies, MIM#618577; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1045 RAB40AL Zornitza Stark Marked gene: RAB40AL as ready
Intellectual disability syndromic and non-syndromic v0.1045 RAB40AL Zornitza Stark Gene: rab40al has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1045 RAB40AL Zornitza Stark Phenotypes for gene: RAB40AL were changed from to MENTAL RETARDATION, X-LINKED, SYNDROMIC, MARTIN-PROBST TYPE
Intellectual disability syndromic and non-syndromic v0.1044 RAB40AL Zornitza Stark Publications for gene: RAB40AL were set to
Intellectual disability syndromic and non-syndromic v0.1043 RAB40AL Zornitza Stark Mode of inheritance for gene: RAB40AL was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Intellectual disability syndromic and non-syndromic v0.1042 RAB40AL Zornitza Stark Classified gene: RAB40AL as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.1042 RAB40AL Zornitza Stark Gene: rab40al has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1041 RAB40AL Zornitza Stark reviewed gene: RAB40AL: Rating: RED; Mode of pathogenicity: None; Publications: 25044830; Phenotypes: MENTAL RETARDATION, X-LINKED, SYNDROMIC, MARTIN-PROBST TYPE; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Intellectual disability syndromic and non-syndromic v0.1041 RAB27A Zornitza Stark Marked gene: RAB27A as ready
Intellectual disability syndromic and non-syndromic v0.1041 RAB27A Zornitza Stark Gene: rab27a has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1041 RAB27A Zornitza Stark Phenotypes for gene: RAB27A were changed from to Griscelli syndrome, type 2, MIM#607624
Intellectual disability syndromic and non-syndromic v0.1040 RAB27A Zornitza Stark Mode of inheritance for gene: RAB27A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1039 RAB27A Zornitza Stark Classified gene: RAB27A as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.1039 RAB27A Zornitza Stark Gene: rab27a has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1038 RAB27A Zornitza Stark reviewed gene: RAB27A: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Griscelli syndrome, type 2, MIM#607624; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1038 PYGL Zornitza Stark Marked gene: PYGL as ready
Intellectual disability syndromic and non-syndromic v0.1038 PYGL Zornitza Stark Gene: pygl has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1038 PYGL Zornitza Stark Phenotypes for gene: PYGL were changed from to Glycogen storage disease VI, MIM#232700
Intellectual disability syndromic and non-syndromic v0.1037 PYGL Zornitza Stark Mode of inheritance for gene: PYGL was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1036 PYGL Zornitza Stark Classified gene: PYGL as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.1036 PYGL Zornitza Stark Gene: pygl has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1035 PYGL Zornitza Stark reviewed gene: PYGL: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Glycogen storage disease VI, MIM#232700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1035 PUM1 Zornitza Stark Marked gene: PUM1 as ready
Intellectual disability syndromic and non-syndromic v0.1035 PUM1 Zornitza Stark Gene: pum1 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1035 PUM1 Zornitza Stark Phenotypes for gene: PUM1 were changed from to Spinocerebellar ataxia 47, MIM#617931
Intellectual disability syndromic and non-syndromic v0.1034 PUM1 Zornitza Stark Publications for gene: PUM1 were set to
Intellectual disability syndromic and non-syndromic v0.1033 PUM1 Zornitza Stark Mode of inheritance for gene: PUM1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1032 PUM1 Zornitza Stark Classified gene: PUM1 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.1032 PUM1 Zornitza Stark Gene: pum1 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1031 PUM1 Zornitza Stark reviewed gene: PUM1: Rating: AMBER; Mode of pathogenicity: None; Publications: 29474920, 25768905; Phenotypes: Spinocerebellar ataxia 47, MIM#617931; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1031 PSAP Zornitza Stark Marked gene: PSAP as ready
Intellectual disability syndromic and non-syndromic v0.1031 PSAP Zornitza Stark Gene: psap has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1031 PSAP Zornitza Stark Phenotypes for gene: PSAP were changed from to Metachromatic leukodystrophy due to SAP-b deficiency, MIM#249900
Intellectual disability syndromic and non-syndromic v0.1030 PSAP Zornitza Stark Mode of inheritance for gene: PSAP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1029 PSAP Zornitza Stark reviewed gene: PSAP: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Metachromatic leukodystrophy due to SAP-b deficiency, MIM#249900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1029 PRX Zornitza Stark Marked gene: PRX as ready
Intellectual disability syndromic and non-syndromic v0.1029 PRX Zornitza Stark Gene: prx has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1029 PRX Zornitza Stark Phenotypes for gene: PRX were changed from to Charcot-Marie-Tooth disease, type 4F, MIM#614895
Intellectual disability syndromic and non-syndromic v0.1028 PRX Zornitza Stark Mode of inheritance for gene: PRX was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1027 PRX Zornitza Stark Classified gene: PRX as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.1027 PRX Zornitza Stark Gene: prx has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1026 PRX Zornitza Stark reviewed gene: PRX: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Charcot-Marie-Tooth disease, type 4F, MIM#614895; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1026 PRRX1 Zornitza Stark Marked gene: PRRX1 as ready
Intellectual disability syndromic and non-syndromic v0.1026 PRRX1 Zornitza Stark Gene: prrx1 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1026 PRRX1 Zornitza Stark Phenotypes for gene: PRRX1 were changed from to Agnathia-otocephaly complex, MIM#202650
Intellectual disability syndromic and non-syndromic v0.1025 PRRX1 Zornitza Stark Classified gene: PRRX1 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.1025 PRRX1 Zornitza Stark Gene: prrx1 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1024 PRRX1 Zornitza Stark reviewed gene: PRRX1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Agnathia-otocephaly complex, MIM#202650; Mode of inheritance: None
Intellectual disability syndromic and non-syndromic v0.1024 PRR12 Zornitza Stark Marked gene: PRR12 as ready
Intellectual disability syndromic and non-syndromic v0.1024 PRR12 Zornitza Stark Gene: prr12 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1024 PRR12 Zornitza Stark Phenotypes for gene: PRR12 were changed from to intellectual disability; iris abnormalities
Intellectual disability syndromic and non-syndromic v0.1023 PRR12 Zornitza Stark Classified gene: PRR12 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1023 PRR12 Zornitza Stark Gene: prr12 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1022 PRR12 Zornitza Stark gene: PRR12 was added
gene: PRR12 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
Mode of inheritance for gene: PRR12 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PRR12 were set to 29556724
Review for gene: PRR12 was set to GREEN
Added comment: Three unrelated individuals reported with de novo LoF variants; in addition, another individual with translocation disrupting gene.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1021 PRKRA Zornitza Stark Marked gene: PRKRA as ready
Intellectual disability syndromic and non-syndromic v0.1021 PRKRA Zornitza Stark Gene: prkra has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1021 PRKRA Zornitza Stark Phenotypes for gene: PRKRA were changed from to Dystonia 16, MIM#612067
Intellectual disability syndromic and non-syndromic v0.1020 PRKRA Zornitza Stark Mode of inheritance for gene: PRKRA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1019 PRKRA Zornitza Stark Classified gene: PRKRA as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.1019 PRKRA Zornitza Stark Gene: prkra has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1018 PRKRA Zornitza Stark reviewed gene: PRKRA: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Dystonia 16, MIM#612067; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1018 PRKN Zornitza Stark Marked gene: PRKN as ready
Intellectual disability syndromic and non-syndromic v0.1018 PRKN Zornitza Stark Gene: prkn has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1018 PRKN Zornitza Stark Phenotypes for gene: PRKN were changed from to Parkinson disease, juvenile, type 2, MIM#600116
Intellectual disability syndromic and non-syndromic v0.1017 PRKN Zornitza Stark Mode of inheritance for gene: PRKN was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1016 PRKN Zornitza Stark Classified gene: PRKN as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.1016 PRKN Zornitza Stark Gene: prkn has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1015 PRKN Zornitza Stark reviewed gene: PRKN: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Parkinson disease, juvenile, type 2, MIM#600116; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1015 PRKDC Zornitza Stark Marked gene: PRKDC as ready
Intellectual disability syndromic and non-syndromic v0.1015 PRKDC Zornitza Stark Gene: prkdc has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1015 PRKDC Zornitza Stark Phenotypes for gene: PRKDC were changed from to Immunodeficiency 26, with or without neurologic abnormalities, MIM#615966
Intellectual disability syndromic and non-syndromic v0.1014 PRKDC Zornitza Stark Publications for gene: PRKDC were set to
Intellectual disability syndromic and non-syndromic v0.1013 PRKDC Zornitza Stark Mode of inheritance for gene: PRKDC was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1012 PRKDC Zornitza Stark Classified gene: PRKDC as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.1012 PRKDC Zornitza Stark Gene: prkdc has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1011 PRKDC Zornitza Stark reviewed gene: PRKDC: Rating: RED; Mode of pathogenicity: None; Publications: 19075392, 23722905; Phenotypes: Immunodeficiency 26, with or without neurologic abnormalities, MIM#615966; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1011 PRKAR1A Zornitza Stark Phenotypes for gene: PRKAR1A were changed from to Acrodysostosis 1, with or without hormone resistance, MIM#101800
Intellectual disability syndromic and non-syndromic v0.1010 PRKAR1A Zornitza Stark Mode of inheritance for gene: PRKAR1A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1009 PRKAR1A Zornitza Stark reviewed gene: PRKAR1A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Acrodysostosis 1, with or without hormone resistance, MIM#101800; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1009 PRICKLE1 Zornitza Stark Marked gene: PRICKLE1 as ready
Intellectual disability syndromic and non-syndromic v0.1009 PRICKLE1 Zornitza Stark Gene: prickle1 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1009 PRICKLE1 Zornitza Stark Phenotypes for gene: PRICKLE1 were changed from to Epilepsy, progressive myoclonic 1B, MIM#612437
Intellectual disability syndromic and non-syndromic v0.1008 PRICKLE1 Zornitza Stark Classified gene: PRICKLE1 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.1008 PRICKLE1 Zornitza Stark Gene: prickle1 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1007 PRICKLE1 Zornitza Stark reviewed gene: PRICKLE1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Epilepsy, progressive myoclonic 1B, MIM#612437; Mode of inheritance: None
Intellectual disability syndromic and non-syndromic v0.1007 PRF1 Zornitza Stark Marked gene: PRF1 as ready
Intellectual disability syndromic and non-syndromic v0.1007 PRF1 Zornitza Stark Gene: prf1 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1007 PRF1 Zornitza Stark Phenotypes for gene: PRF1 were changed from to Hemophagocytic lymphohistiocytosis, familial, 2, MIM#603553
Intellectual disability syndromic and non-syndromic v0.1006 PRF1 Zornitza Stark Mode of inheritance for gene: PRF1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1005 PRF1 Zornitza Stark Classified gene: PRF1 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.1005 PRF1 Zornitza Stark Gene: prf1 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1004 PRF1 Zornitza Stark reviewed gene: PRF1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Hemophagocytic lymphohistiocytosis, familial, 2, MIM#603553; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1004 PREPL Zornitza Stark Marked gene: PREPL as ready
Intellectual disability syndromic and non-syndromic v0.1004 PREPL Zornitza Stark Gene: prepl has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1004 PREPL Zornitza Stark Phenotypes for gene: PREPL were changed from to Myasthenic syndrome, congenital, 22, MIM#616224
Intellectual disability syndromic and non-syndromic v0.1003 PREPL Zornitza Stark Publications for gene: PREPL were set to
Intellectual disability syndromic and non-syndromic v0.1002 PREPL Zornitza Stark Mode of inheritance for gene: PREPL was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1001 PREPL Zornitza Stark Classified gene: PREPL as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.1001 PREPL Zornitza Stark Gene: prepl has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1000 PREPL Zornitza Stark reviewed gene: PREPL: Rating: RED; Mode of pathogenicity: None; Publications: 28726805; Phenotypes: Myasthenic syndrome, congenital, 22, MIM#616224; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.216 PPP1R21 Zornitza Stark Marked gene: PPP1R21 as ready
Mendeliome v0.216 PPP1R21 Zornitza Stark Gene: ppp1r21 has been classified as Green List (High Evidence).
Mendeliome v0.216 PPP1R21 Zornitza Stark Classified gene: PPP1R21 as Green List (high evidence)
Mendeliome v0.216 PPP1R21 Zornitza Stark Gene: ppp1r21 has been classified as Green List (High Evidence).
Mendeliome v0.215 PPP1R21 Zornitza Stark gene: PPP1R21 was added
gene: PPP1R21 was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: PPP1R21 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PPP1R21 were set to 30520571
Phenotypes for gene: PPP1R21 were set to Hypotonia; intellectual disability; white matter abnormalities
Review for gene: PPP1R21 was set to GREEN
Added comment: At least four unrelated families reported.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1000 PRDM8 Zornitza Stark Marked gene: PRDM8 as ready
Intellectual disability syndromic and non-syndromic v0.1000 PRDM8 Zornitza Stark Gene: prdm8 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1000 PRDM8 Zornitza Stark Phenotypes for gene: PRDM8 were changed from to Epilepsy, progressive myoclonic, 10, MIM#616640
Intellectual disability syndromic and non-syndromic v0.999 PRDM8 Zornitza Stark Publications for gene: PRDM8 were set to
Intellectual disability syndromic and non-syndromic v0.998 PRDM8 Zornitza Stark Mode of inheritance for gene: PRDM8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.997 PRDM8 Zornitza Stark Classified gene: PRDM8 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.997 PRDM8 Zornitza Stark Gene: prdm8 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.996 PRDM8 Zornitza Stark reviewed gene: PRDM8: Rating: RED; Mode of pathogenicity: None; Publications: 22961547; Phenotypes: Epilepsy, progressive myoclonic, 10, MIM#616640; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.996 PPP1R21 Zornitza Stark Marked gene: PPP1R21 as ready
Intellectual disability syndromic and non-syndromic v0.996 PPP1R21 Zornitza Stark Gene: ppp1r21 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.996 PPP1R21 Zornitza Stark Classified gene: PPP1R21 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.996 PPP1R21 Zornitza Stark Gene: ppp1r21 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.995 PPP1R21 Zornitza Stark gene: PPP1R21 was added
gene: PPP1R21 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
Mode of inheritance for gene: PPP1R21 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PPP1R21 were set to 30520571
Phenotypes for gene: PPP1R21 were set to Hypotonia; intellectual disability; white matter abnormalities
Review for gene: PPP1R21 was set to GREEN
Added comment: At least four unrelated families reported with bi-allelic variants in this gene.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.994 PPOX Zornitza Stark Marked gene: PPOX as ready
Intellectual disability syndromic and non-syndromic v0.994 PPOX Zornitza Stark Gene: ppox has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.994 PPOX Zornitza Stark Phenotypes for gene: PPOX were changed from to Porphyria variegata, MIM#176200
Intellectual disability syndromic and non-syndromic v0.993 PPOX Zornitza Stark Mode of inheritance for gene: PPOX was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.992 PPOX Zornitza Stark Classified gene: PPOX as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.992 PPOX Zornitza Stark Gene: ppox has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.991 PPOX Zornitza Stark reviewed gene: PPOX: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Porphyria variegata, MIM#176200; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.991 PPM1K Zornitza Stark Marked gene: PPM1K as ready
Intellectual disability syndromic and non-syndromic v0.991 PPM1K Zornitza Stark Gene: ppm1k has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.991 PPM1K Zornitza Stark Phenotypes for gene: PPM1K were changed from to Maple syrup urine disease, mild variant, MIM#615135
Intellectual disability syndromic and non-syndromic v0.990 PPM1K Zornitza Stark Publications for gene: PPM1K were set to
Intellectual disability syndromic and non-syndromic v0.989 PPM1K Zornitza Stark Mode of inheritance for gene: PPM1K was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.988 PPM1K Zornitza Stark Classified gene: PPM1K as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.988 PPM1K Zornitza Stark Gene: ppm1k has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.987 PPM1K Zornitza Stark reviewed gene: PPM1K: Rating: RED; Mode of pathogenicity: None; Publications: 23086801; Phenotypes: Maple syrup urine disease, mild variant, MIM#615135; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Aortopathy_Connective Tissue Disorders v0.7 PLOD3 Zornitza Stark Marked gene: PLOD3 as ready
Aortopathy_Connective Tissue Disorders v0.7 PLOD3 Zornitza Stark Gene: plod3 has been classified as Green List (High Evidence).
Aortopathy_Connective Tissue Disorders v0.7 PLOD3 Zornitza Stark Classified gene: PLOD3 as Green List (high evidence)
Aortopathy_Connective Tissue Disorders v0.7 PLOD3 Zornitza Stark Gene: plod3 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.987 POP1 Zornitza Stark Marked gene: POP1 as ready
Intellectual disability syndromic and non-syndromic v0.987 POP1 Zornitza Stark Gene: pop1 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.987 POP1 Zornitza Stark Phenotypes for gene: POP1 were changed from to Anauxetic dysplasia 2, MIM#617396
Intellectual disability syndromic and non-syndromic v0.986 POP1 Zornitza Stark Mode of inheritance for gene: POP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.985 POP1 Zornitza Stark Classified gene: POP1 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.985 POP1 Zornitza Stark Gene: pop1 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.984 POP1 Zornitza Stark reviewed gene: POP1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Anauxetic dysplasia 2, MIM#617396; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.984 PON3 Zornitza Stark Marked gene: PON3 as ready
Intellectual disability syndromic and non-syndromic v0.984 PON3 Zornitza Stark Gene: pon3 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.984 PON3 Zornitza Stark Classified gene: PON3 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.984 PON3 Zornitza Stark Gene: pon3 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.983 PON3 Zornitza Stark reviewed gene: PON3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Intellectual disability syndromic and non-syndromic v0.983 POMK Zornitza Stark commented on gene: POMK: ID is part of the phenotype.
Intellectual disability syndromic and non-syndromic v0.983 POMK Zornitza Stark Marked gene: POMK as ready
Intellectual disability syndromic and non-syndromic v0.983 POMK Zornitza Stark Gene: pomk has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.983 POMK Zornitza Stark Phenotypes for gene: POMK were changed from to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12, MIM#615249
Intellectual disability syndromic and non-syndromic v0.982 POMK Zornitza Stark Mode of inheritance for gene: POMK was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.981 POMK Zornitza Stark reviewed gene: POMK: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12, MIM#615249; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.981 POC1A Zornitza Stark Marked gene: POC1A as ready
Intellectual disability syndromic and non-syndromic v0.981 POC1A Zornitza Stark Gene: poc1a has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.981 POC1A Zornitza Stark Phenotypes for gene: POC1A were changed from to Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis, MIM#614813
Intellectual disability syndromic and non-syndromic v0.980 POC1A Zornitza Stark Mode of inheritance for gene: POC1A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.979 POC1A Zornitza Stark Classified gene: POC1A as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.979 POC1A Zornitza Stark Gene: poc1a has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.978 POC1A Zornitza Stark reviewed gene: POC1A: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis, MIM#614813; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.978 PNPT1 Zornitza Stark Marked gene: PNPT1 as ready
Intellectual disability syndromic and non-syndromic v0.978 PNPT1 Zornitza Stark Gene: pnpt1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.978 PNPT1 Zornitza Stark Phenotypes for gene: PNPT1 were changed from to Combined oxidative phosphorylation deficiency 13, MIM#614932
Intellectual disability syndromic and non-syndromic v0.977 PNPT1 Zornitza Stark Mode of inheritance for gene: PNPT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.976 PNPT1 Zornitza Stark reviewed gene: PNPT1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Combined oxidative phosphorylation deficiency 13, MIM#614932; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.976 PNP Zornitza Stark Marked gene: PNP as ready
Intellectual disability syndromic and non-syndromic v0.976 PNP Zornitza Stark Gene: pnp has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.976 PNP Zornitza Stark Phenotypes for gene: PNP were changed from to Immunodeficiency due to purine nucleoside phosphorylase deficiency, MIM#613179
Intellectual disability syndromic and non-syndromic v0.975 PNP Zornitza Stark Mode of inheritance for gene: PNP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.974 PNP Zornitza Stark reviewed gene: PNP: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Immunodeficiency due to purine nucleoside phosphorylase deficiency, MIM#613179; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Aortopathy_Connective Tissue Disorders v0.5 PLOD3 Zornitza Stark gene: PLOD3 was added
gene: PLOD3 was added to Aortopathy, Connective tissue disorder_VCGS. Sources: Literature
Mode of inheritance for gene: PLOD3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PLOD3 were set to 18834968; 31129566; 30237576; 30463024
Phenotypes for gene: PLOD3 were set to Lysyl hydroxylase 3 deficiency, MIM#612394
Review for gene: PLOD3 was set to GREEN
Added comment: At least three families reported with bi-allelic variants in this gene and a connective tissue phenotype; another in a large study reporting multiple emerging genes in consanguineous families.
Sources: Literature
Aortopathy_Connective Tissue Disorders v0.5 PLOD3 Zornitza Stark gene: PLOD3 was added
gene: PLOD3 was added to Aortopathy, Connective tissue disorder_VCGS. Sources: Literature
Mode of inheritance for gene: PLOD3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PLOD3 were set to 18834968; 31129566; 30237576; 30463024
Phenotypes for gene: PLOD3 were set to Lysyl hydroxylase 3 deficiency, MIM#612394
Review for gene: PLOD3 was set to GREEN
Added comment: At least three families reported with bi-allelic variants in this gene and a connective tissue phenotype; another in a large study reporting multiple emerging genes in consanguineous families.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.974 PLOD3 Zornitza Stark Publications for gene: PLOD3 were set to 18834968; 31129566
Intellectual disability syndromic and non-syndromic v0.973 PLOD3 Zornitza Stark Marked gene: PLOD3 as ready
Intellectual disability syndromic and non-syndromic v0.973 PLOD3 Zornitza Stark Added comment: Comment when marking as ready: Two other reports identified, one of connective tissue/EB phenotype and the other in a large study reporting multiple emerging genes in consanguineous families
Intellectual disability syndromic and non-syndromic v0.973 PLOD3 Zornitza Stark Gene: plod3 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.973 PLOD3 Zornitza Stark Phenotypes for gene: PLOD3 were changed from to Lysyl hydroxylase 3 deficiency, MIM#612394
Intellectual disability syndromic and non-syndromic v0.972 PLOD3 Zornitza Stark Publications for gene: PLOD3 were set to
Intellectual disability syndromic and non-syndromic v0.971 PLOD3 Zornitza Stark Mode of inheritance for gene: PLOD3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.970 PLOD3 Zornitza Stark Classified gene: PLOD3 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.970 PLOD3 Zornitza Stark Gene: plod3 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.969 PLOD3 Zornitza Stark reviewed gene: PLOD3: Rating: AMBER; Mode of pathogenicity: None; Publications: 18834968, 31129566; Phenotypes: Lysyl hydroxylase 3 deficiency, MIM#612394; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.969 PIP5K1B Zornitza Stark Marked gene: PIP5K1B as ready
Intellectual disability syndromic and non-syndromic v0.969 PIP5K1B Zornitza Stark Gene: pip5k1b has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.969 PIP5K1B Zornitza Stark Classified gene: PIP5K1B as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.969 PIP5K1B Zornitza Stark Gene: pip5k1b has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.968 PIP5K1B Zornitza Stark reviewed gene: PIP5K1B: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Intellectual disability syndromic and non-syndromic v0.968 PINK1 Zornitza Stark Marked gene: PINK1 as ready
Intellectual disability syndromic and non-syndromic v0.968 PINK1 Zornitza Stark Gene: pink1 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.968 PINK1 Zornitza Stark Phenotypes for gene: PINK1 were changed from to Parkinson disease 6, early onset, MIM#605909
Intellectual disability syndromic and non-syndromic v0.967 PINK1 Zornitza Stark Mode of inheritance for gene: PINK1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.966 PINK1 Zornitza Stark Classified gene: PINK1 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.966 PINK1 Zornitza Stark Gene: pink1 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.965 PINK1 Zornitza Stark reviewed gene: PINK1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Parkinson disease 6, early onset, MIM#605909; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.965 PIK3R1 Zornitza Stark Marked gene: PIK3R1 as ready
Intellectual disability syndromic and non-syndromic v0.965 PIK3R1 Zornitza Stark Gene: pik3r1 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.965 PIK3R1 Zornitza Stark Phenotypes for gene: PIK3R1 were changed from to SHORT syndrome, MIM#269880
Intellectual disability syndromic and non-syndromic v0.964 PIK3R1 Zornitza Stark Mode of inheritance for gene: PIK3R1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.963 PIK3R1 Zornitza Stark Mode of inheritance for gene: PIK3R1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.962 PIK3R1 Zornitza Stark Classified gene: PIK3R1 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.962 PIK3R1 Zornitza Stark Gene: pik3r1 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.961 PIK3R1 Zornitza Stark reviewed gene: PIK3R1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: SHORT syndrome, MIM#269880; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.961 PHKG2 Zornitza Stark Classified gene: PHKG2 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.961 PHKG2 Zornitza Stark Gene: phkg2 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.960 PHKG2 Zornitza Stark Marked gene: PHKG2 as ready
Intellectual disability syndromic and non-syndromic v0.960 PHKG2 Zornitza Stark Gene: phkg2 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.960 PHKG2 Zornitza Stark Phenotypes for gene: PHKG2 were changed from to Glycogen storage disease IXc, MIM#613027
Intellectual disability syndromic and non-syndromic v0.959 PHKG2 Zornitza Stark Mode of inheritance for gene: PHKG2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.958 PHKG2 Zornitza Stark Classified gene: PHKG2 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.958 PHKG2 Zornitza Stark Gene: phkg2 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.957 PHKG2 Zornitza Stark reviewed gene: PHKG2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Glycogen storage disease IXc, MIM#613027; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.957 PHKA2 Zornitza Stark Marked gene: PHKA2 as ready
Intellectual disability syndromic and non-syndromic v0.957 PHKA2 Zornitza Stark Gene: phka2 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.957 PHKA2 Zornitza Stark Phenotypes for gene: PHKA2 were changed from to Glycogen storage disease, type IXa1, MIM#306000
Intellectual disability syndromic and non-syndromic v0.956 PHKA2 Zornitza Stark Mode of inheritance for gene: PHKA2 was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Intellectual disability syndromic and non-syndromic v0.955 PHKA2 Zornitza Stark Classified gene: PHKA2 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.955 PHKA2 Zornitza Stark Gene: phka2 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.954 PHKA2 Zornitza Stark reviewed gene: PHKA2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Glycogen storage disease, type IXa1, MIM#306000; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Intellectual disability syndromic and non-syndromic v0.954 PHIP Zornitza Stark Marked gene: PHIP as ready
Intellectual disability syndromic and non-syndromic v0.954 PHIP Zornitza Stark Gene: phip has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.954 PHIP Zornitza Stark Classified gene: PHIP as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.954 PHIP Zornitza Stark Gene: phip has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.953 PHIP Zornitza Stark gene: PHIP was added
gene: PHIP was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Expert list
Mode of inheritance for gene: PHIP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PHIP were set to 29209020; 27900362; 23033978
Phenotypes for gene: PHIP were set to Chung-Jansen syndrome, MIM#617991
Review for gene: PHIP was set to GREEN
Added comment: Recent large case series describing 20 individuals; variable expressivity, some inherited from mildly affected parents, most de novo.
Sources: Expert list
Mendeliome v0.214 PHC1 Zornitza Stark Marked gene: PHC1 as ready
Mendeliome v0.214 PHC1 Zornitza Stark Gene: phc1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.214 PHC1 Zornitza Stark Publications for gene: PHC1 were set to
Mendeliome v0.213 PHC1 Zornitza Stark Phenotypes for gene: PHC1 were changed from to Microcephaly 11, primary, autosomal recessive, MIM#615414
Mendeliome v0.212 PHC1 Zornitza Stark Mode of inheritance for gene: PHC1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.211 PHC1 Zornitza Stark Classified gene: PHC1 as Amber List (moderate evidence)
Mendeliome v0.211 PHC1 Zornitza Stark Gene: phc1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.210 PHC1 Zornitza Stark reviewed gene: PHC1: Rating: AMBER; Mode of pathogenicity: None; Publications: 23418308; Phenotypes: Microcephaly 11, primary, autosomal recessive, MIM#615414; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Microcephaly v0.26 PHC1 Zornitza Stark Marked gene: PHC1 as ready
Microcephaly v0.26 PHC1 Zornitza Stark Gene: phc1 has been classified as Amber List (Moderate Evidence).
Microcephaly v0.26 PHC1 Zornitza Stark Phenotypes for gene: PHC1 were changed from to Microcephaly 11, primary, autosomal recessive, MIM#615414
Microcephaly v0.25 PHC1 Zornitza Stark Classified gene: PHC1 as Amber List (moderate evidence)
Microcephaly v0.25 PHC1 Zornitza Stark Gene: phc1 has been classified as Amber List (Moderate Evidence).
Microcephaly v0.24 PHC1 Zornitza Stark Publications for gene: PHC1 were set to
Microcephaly v0.23 PHC1 Zornitza Stark Mode of inheritance for gene: PHC1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Microcephaly v0.23 PHC1 Zornitza Stark Classified gene: PHC1 as Amber List (moderate evidence)
Microcephaly v0.23 PHC1 Zornitza Stark Gene: phc1 has been classified as Amber List (Moderate Evidence).
Microcephaly v0.22 PHC1 Zornitza Stark reviewed gene: PHC1: Rating: AMBER; Mode of pathogenicity: None; Publications: 23418308; Phenotypes: Microcephaly 11, primary, autosomal recessive, MIM#615414; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.952 PHC1 Zornitza Stark Marked gene: PHC1 as ready
Intellectual disability syndromic and non-syndromic v0.952 PHC1 Zornitza Stark Gene: phc1 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.952 PHC1 Zornitza Stark Phenotypes for gene: PHC1 were changed from to Microcephaly 11, primary, autosomal recessive, MIM#615414
Intellectual disability syndromic and non-syndromic v0.951 PHC1 Zornitza Stark Publications for gene: PHC1 were set to
Intellectual disability syndromic and non-syndromic v0.950 PHC1 Zornitza Stark Mode of inheritance for gene: PHC1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.949 PHC1 Zornitza Stark Classified gene: PHC1 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.949 PHC1 Zornitza Stark Gene: phc1 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.948 PHC1 Zornitza Stark reviewed gene: PHC1: Rating: AMBER; Mode of pathogenicity: None; Publications: 23418308; Phenotypes: Microcephaly 11, primary, autosomal recessive, MIM#615414; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.948 PDP1 Zornitza Stark Marked gene: PDP1 as ready
Intellectual disability syndromic and non-syndromic v0.948 PDP1 Zornitza Stark Gene: pdp1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.948 PDP1 Zornitza Stark Phenotypes for gene: PDP1 were changed from to Pyruvate dehydrogenase phosphatase deficiency, MIM#608782
Intellectual disability syndromic and non-syndromic v0.947 PDP1 Zornitza Stark Publications for gene: PDP1 were set to
Intellectual disability syndromic and non-syndromic v0.946 PDP1 Zornitza Stark Mode of inheritance for gene: PDP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.945 PDP1 Zornitza Stark reviewed gene: PDP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 19184109, 15855260, 31392110; Phenotypes: Pyruvate dehydrogenase phosphatase deficiency, MIM#608782; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.945 PDHB Zornitza Stark Marked gene: PDHB as ready
Intellectual disability syndromic and non-syndromic v0.945 PDHB Zornitza Stark Gene: pdhb has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.945 PDHB Zornitza Stark Phenotypes for gene: PDHB were changed from to Pyruvate dehydrogenase E1-beta deficiency, MIM#614111
Intellectual disability syndromic and non-syndromic v0.944 PDHB Zornitza Stark Publications for gene: PDHB were set to
Intellectual disability syndromic and non-syndromic v0.943 PDHB Zornitza Stark reviewed gene: PDHB: Rating: GREEN; Mode of pathogenicity: None; Publications: 15138885, 26014431; Phenotypes: Pyruvate dehydrogenase E1-beta deficiency, MIM#614111; Mode of inheritance: None
Intellectual disability syndromic and non-syndromic v0.943 PDGFB Zornitza Stark Marked gene: PDGFB as ready
Intellectual disability syndromic and non-syndromic v0.943 PDGFB Zornitza Stark Gene: pdgfb has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.943 PDGFB Zornitza Stark Phenotypes for gene: PDGFB were changed from to Basal ganglia calcification, idiopathic, 5, MIM#615483
Intellectual disability syndromic and non-syndromic v0.942 PDGFB Zornitza Stark Mode of inheritance for gene: PDGFB was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.941 PDGFB Zornitza Stark Classified gene: PDGFB as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.941 PDGFB Zornitza Stark Gene: pdgfb has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.940 PDGFB Zornitza Stark reviewed gene: PDGFB: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Basal ganglia calcification, idiopathic, 5, MIM#615483; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.940 PDE6D Zornitza Stark Marked gene: PDE6D as ready
Intellectual disability syndromic and non-syndromic v0.940 PDE6D Zornitza Stark Gene: pde6d has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.940 PDE6D Zornitza Stark Phenotypes for gene: PDE6D were changed from to Joubert syndrome 22, MIM#615665
Intellectual disability syndromic and non-syndromic v0.939 PDE6D Zornitza Stark Publications for gene: PDE6D were set to
Intellectual disability syndromic and non-syndromic v0.938 PDE6D Zornitza Stark Mode of inheritance for gene: PDE6D was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.937 PDE6D Zornitza Stark reviewed gene: PDE6D: Rating: GREEN; Mode of pathogenicity: None; Publications: 24166846, 30423442; Phenotypes: Joubert syndrome 22, MIM#615665; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.937 PDE11A Zornitza Stark Marked gene: PDE11A as ready
Intellectual disability syndromic and non-syndromic v0.937 PDE11A Zornitza Stark Gene: pde11a has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.937 PDE11A Zornitza Stark Phenotypes for gene: PDE11A were changed from to Pigmented nodular adrenocortical disease, primary, 2, MIM#610475
Intellectual disability syndromic and non-syndromic v0.936 PDE11A Zornitza Stark Mode of inheritance for gene: PDE11A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.935 PDE11A Zornitza Stark Classified gene: PDE11A as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.935 PDE11A Zornitza Stark Gene: pde11a has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.934 PDE11A Zornitza Stark reviewed gene: PDE11A: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Pigmented nodular adrenocortical disease, primary, 2, MIM#610475; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.210 TBX4 Zornitza Stark Marked gene: TBX4 as ready
Mendeliome v0.210 TBX4 Zornitza Stark Gene: tbx4 has been classified as Green List (High Evidence).
Mendeliome v0.210 TBX4 Zornitza Stark Phenotypes for gene: TBX4 were changed from to Posterior amelia with pelvis and pulmonary hypoplasia; small patella syndrome
Mendeliome v0.209 TBX4 Zornitza Stark Publications for gene: TBX4 were set to
Mendeliome v0.208 TBX4 Zornitza Stark Mode of inheritance for gene: TBX4 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.207 TBX4 Zornitza Stark reviewed gene: TBX4: Rating: GREEN; Mode of pathogenicity: None; Publications: 31761294; Phenotypes: Posterior amelia with pelvis and pulmonary hypoplasia, small patella syndrome; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.207 OXR1 Zornitza Stark Marked gene: OXR1 as ready
Mendeliome v0.207 OXR1 Zornitza Stark Gene: oxr1 has been classified as Green List (High Evidence).
Mendeliome v0.207 OXR1 Zornitza Stark Classified gene: OXR1 as Green List (high evidence)
Mendeliome v0.207 OXR1 Zornitza Stark Gene: oxr1 has been classified as Green List (High Evidence).
Mendeliome v0.206 OXR1 Zornitza Stark gene: OXR1 was added
gene: OXR1 was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: OXR1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: OXR1 were set to 31785787
Phenotypes for gene: OXR1 were set to Intellectual disability; seizures; cerebellar atrophy
Review for gene: OXR1 was set to GREEN
Added comment: Five individuals from three families.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.934 OXR1 Zornitza Stark Marked gene: OXR1 as ready
Intellectual disability syndromic and non-syndromic v0.934 OXR1 Zornitza Stark Gene: oxr1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.934 OXR1 Zornitza Stark Classified gene: OXR1 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.934 OXR1 Zornitza Stark Gene: oxr1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.933 OXR1 Zornitza Stark gene: OXR1 was added
gene: OXR1 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
Mode of inheritance for gene: OXR1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: OXR1 were set to 31785787
Phenotypes for gene: OXR1 were set to Intellectual disability; seizures; cerebellar atrophy
Review for gene: OXR1 was set to GREEN
Added comment: Five individuals from three families.
Sources: Literature
Mendeliome v0.205 TMX2 Zornitza Stark Marked gene: TMX2 as ready
Mendeliome v0.205 TMX2 Zornitza Stark Gene: tmx2 has been classified as Green List (High Evidence).
Mendeliome v0.205 TMX2 Zornitza Stark Phenotypes for gene: TMX2 were changed from to Microcephaly; ID; brain malformations
Mendeliome v0.204 TMX2 Zornitza Stark Publications for gene: TMX2 were set to
Mendeliome v0.203 TMX2 Zornitza Stark Mode of inheritance for gene: TMX2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.202 TMX2 Zornitza Stark reviewed gene: TMX2: Rating: GREEN; Mode of pathogenicity: None; Publications: 31735293, 31586943; Phenotypes: Microcephaly, ID, brain malformations; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Microcephaly v0.22 TMX2 Zornitza Stark Marked gene: TMX2 as ready
Microcephaly v0.22 TMX2 Zornitza Stark Gene: tmx2 has been classified as Green List (High Evidence).
Microcephaly v0.22 TMX2 Zornitza Stark Phenotypes for gene: TMX2 were changed from to Microcephaly; ID; brain malformations
Microcephaly v0.21 TMX2 Zornitza Stark Publications for gene: TMX2 were set to
Microcephaly v0.20 TMX2 Zornitza Stark Mode of inheritance for gene: TMX2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Microcephaly v0.19 TMX2 Zornitza Stark reviewed gene: TMX2: Rating: GREEN; Mode of pathogenicity: None; Publications: 31735293, 31586943; Phenotypes: Microcephaly, ID, brain malformations; Mode of inheritance: None
Intellectual disability syndromic and non-syndromic v0.932 TMX2 Zornitza Stark Marked gene: TMX2 as ready
Intellectual disability syndromic and non-syndromic v0.932 TMX2 Zornitza Stark Gene: tmx2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.932 TMX2 Zornitza Stark Classified gene: TMX2 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.932 TMX2 Zornitza Stark Gene: tmx2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.931 TMX2 Zornitza Stark gene: TMX2 was added
gene: TMX2 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
Mode of inheritance for gene: TMX2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TMX2 were set to 31735293; 31586943
Phenotypes for gene: TMX2 were set to Microcephaly; ID; brain malformations
Review for gene: TMX2 was set to GREEN
Added comment: 14 individuals from 10 unrelated families with bi-allelic variants in this gene (31735293) and another four families with recurrent variant (31586943).
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.930 PDE10A Zornitza Stark Marked gene: PDE10A as ready
Intellectual disability syndromic and non-syndromic v0.930 PDE10A Zornitza Stark Added comment: Comment when marking as ready: Note that allelic disorder, Striatal degeneration, autosomal dominant, MIM#616922, is caused by heterozygous variants and ID is not part of the phenotype.
Intellectual disability syndromic and non-syndromic v0.930 PDE10A Zornitza Stark Gene: pde10a has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.930 PDE10A Zornitza Stark Phenotypes for gene: PDE10A were changed from to Dyskinesia, limb and orofacial, infantile-onset, MIM#616921
Intellectual disability syndromic and non-syndromic v0.929 PDE10A Zornitza Stark Publications for gene: PDE10A were set to
Intellectual disability syndromic and non-syndromic v0.928 PDE10A Zornitza Stark Mode of inheritance for gene: PDE10A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.927 PDE10A Zornitza Stark reviewed gene: PDE10A: Rating: GREEN; Mode of pathogenicity: None; Publications: 27058446; Phenotypes: Dyskinesia, limb and orofacial, infantile-onset, MIM#616921; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.927 PCYT2 Zornitza Stark Marked gene: PCYT2 as ready
Intellectual disability syndromic and non-syndromic v0.927 PCYT2 Zornitza Stark Gene: pcyt2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.927 PCYT2 Zornitza Stark Classified gene: PCYT2 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.927 PCYT2 Zornitza Stark Gene: pcyt2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.926 PCYT2 Zornitza Stark gene: PCYT2 was added
gene: PCYT2 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Expert Review
Mode of inheritance for gene: PCYT2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PCYT2 were set to 31637422
Phenotypes for gene: PCYT2 were set to Global developmental delay with regression; spastic para- or tetra paresis; epilepsy; progressive cerebral and cerebellar atrophy
Review for gene: PCYT2 was set to GREEN
Added comment: Five unrelated individuals. Variants are hypomorphic.
Sources: Expert Review
Intellectual disability syndromic and non-syndromic v0.925 PCLO Zornitza Stark Marked gene: PCLO as ready
Intellectual disability syndromic and non-syndromic v0.925 PCLO Zornitza Stark Gene: pclo has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.925 PCLO Zornitza Stark Classified gene: PCLO as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.925 PCLO Zornitza Stark Gene: pclo has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.924 PCLO Zornitza Stark Phenotypes for gene: PCLO were changed from to Pontocerebellar hypoplasia, type 3, MIM#608027
Intellectual disability syndromic and non-syndromic v0.923 PCLO Zornitza Stark Publications for gene: PCLO were set to
Intellectual disability syndromic and non-syndromic v0.922 PCLO Zornitza Stark Mode of inheritance for gene: PCLO was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.921 PCLO Zornitza Stark Classified gene: PCLO as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.921 PCLO Zornitza Stark Gene: pclo has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.920 PCDH9 Zornitza Stark Marked gene: PCDH9 as ready
Intellectual disability syndromic and non-syndromic v0.920 PCDH9 Zornitza Stark Gene: pcdh9 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.920 PCDH9 Zornitza Stark Classified gene: PCDH9 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.920 PCDH9 Zornitza Stark Gene: pcdh9 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.919 PCDH9 Zornitza Stark reviewed gene: PCDH9: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Intellectual disability syndromic and non-syndromic v0.919 PCDH15 Zornitza Stark Marked gene: PCDH15 as ready
Intellectual disability syndromic and non-syndromic v0.919 PCDH15 Zornitza Stark Gene: pcdh15 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.919 PCDH15 Zornitza Stark Phenotypes for gene: PCDH15 were changed from to Deafness, autosomal recessive 23, MIM#609533
Intellectual disability syndromic and non-syndromic v0.918 PCDH15 Zornitza Stark Mode of inheritance for gene: PCDH15 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.917 PCDH15 Zornitza Stark Classified gene: PCDH15 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.917 PCDH15 Zornitza Stark Gene: pcdh15 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.916 PCDH15 Zornitza Stark reviewed gene: PCDH15: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Deafness, autosomal recessive 23, MIM#609533; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.916 PCDH12 Zornitza Stark Marked gene: PCDH12 as ready
Intellectual disability syndromic and non-syndromic v0.916 PCDH12 Zornitza Stark Gene: pcdh12 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.916 PCDH12 Zornitza Stark Phenotypes for gene: PCDH12 were changed from to Diencephalic-mesencephalic junction dysplasia syndrome 1, MIM#251280
Intellectual disability syndromic and non-syndromic v0.915 PCDH12 Zornitza Stark Publications for gene: PCDH12 were set to
Intellectual disability syndromic and non-syndromic v0.914 PCDH12 Zornitza Stark Mode of inheritance for gene: PCDH12 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.913 PCDH12 Zornitza Stark reviewed gene: PCDH12: Rating: GREEN; Mode of pathogenicity: None; Publications: 27164683, 30178464; Phenotypes: Diencephalic-mesencephalic junction dysplasia syndrome 1, MIM#251280; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.913 PCBD1 Zornitza Stark Phenotypes for gene: PCBD1 were changed from to Hyperphenylalaninemia, BH4-deficient, D, MIM#264070
Intellectual disability syndromic and non-syndromic v0.912 PCBD1 Zornitza Stark Mode of inheritance for gene: PCBD1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.911 PCBD1 Zornitza Stark Classified gene: PCBD1 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.911 PCBD1 Zornitza Stark Gene: pcbd1 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.910 PCBD1 Zornitza Stark reviewed gene: PCBD1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Hyperphenylalaninemia, BH4-deficient, D, MIM#264070; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.910 PAX3 Zornitza Stark Marked gene: PAX3 as ready
Intellectual disability syndromic and non-syndromic v0.910 PAX3 Zornitza Stark Gene: pax3 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.910 PAX3 Zornitza Stark Phenotypes for gene: PAX3 were changed from to Craniofacial-deafness-hand syndrome, MIM#122880; Waardenburg syndrome, type 1, MIM#193500; Waardenburg syndrome, type 3, MIM#148820
Intellectual disability syndromic and non-syndromic v0.909 PAX3 Zornitza Stark Mode of inheritance for gene: PAX3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.908 PAX3 Zornitza Stark Classified gene: PAX3 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.908 PAX3 Zornitza Stark Gene: pax3 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.907 PAX3 Zornitza Stark reviewed gene: PAX3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Craniofacial-deafness-hand syndrome, MIM#122880, Waardenburg syndrome, type 1, MIM#193500, Waardenburg syndrome, type 3, MIM#148820; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.907 PAX2 Zornitza Stark Marked gene: PAX2 as ready
Intellectual disability syndromic and non-syndromic v0.907 PAX2 Zornitza Stark Gene: pax2 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.907 PAX2 Zornitza Stark Phenotypes for gene: PAX2 were changed from to Papillorenal syndrome, MIM#120330
Intellectual disability syndromic and non-syndromic v0.906 PAX2 Zornitza Stark Mode of inheritance for gene: PAX2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.905 PAX2 Zornitza Stark Classified gene: PAX2 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.905 PAX2 Zornitza Stark Gene: pax2 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.904 PAX2 Zornitza Stark reviewed gene: PAX2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Papillorenal syndrome, MIM#120330; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.904 PANK2 Zornitza Stark Marked gene: PANK2 as ready
Intellectual disability syndromic and non-syndromic v0.904 PANK2 Zornitza Stark Gene: pank2 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.904 PANK2 Zornitza Stark Phenotypes for gene: PANK2 were changed from to Neurodegeneration with brain iron accumulation 1, MIM#234200
Intellectual disability syndromic and non-syndromic v0.903 PANK2 Zornitza Stark Mode of inheritance for gene: PANK2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.902 PANK2 Zornitza Stark Classified gene: PANK2 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.902 PANK2 Zornitza Stark Gene: pank2 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.901 PANK2 Zornitza Stark reviewed gene: PANK2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodegeneration with brain iron accumulation 1, MIM#234200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.901 PAM16 Zornitza Stark Marked gene: PAM16 as ready
Intellectual disability syndromic and non-syndromic v0.901 PAM16 Zornitza Stark Gene: pam16 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.901 PAM16 Zornitza Stark Phenotypes for gene: PAM16 were changed from to Spondylometaphyseal dysplasia, Megarbane-Dagher-Melike type, MIM#613320
Intellectual disability syndromic and non-syndromic v0.900 PAM16 Zornitza Stark Publications for gene: PAM16 were set to
Intellectual disability syndromic and non-syndromic v0.899 PAM16 Zornitza Stark Mode of inheritance for gene: PAM16 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.898 PAM16 Zornitza Stark reviewed gene: PAM16: Rating: GREEN; Mode of pathogenicity: None; Publications: 24786642, 27354339; Phenotypes: Spondylometaphyseal dysplasia, Megarbane-Dagher-Melike type, MIM#613320; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.898 PACS2 Zornitza Stark Marked gene: PACS2 as ready
Intellectual disability syndromic and non-syndromic v0.898 PACS2 Zornitza Stark Gene: pacs2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.898 PACS2 Zornitza Stark Phenotypes for gene: PACS2 were changed from to Epileptic encephalopathy, early infantile, 66, MIM#618067
Intellectual disability syndromic and non-syndromic v0.897 PACS2 Zornitza Stark Publications for gene: PACS2 were set to
Intellectual disability syndromic and non-syndromic v0.896 PACS2 Zornitza Stark Mode of inheritance for gene: PACS2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.895 PACS2 Zornitza Stark reviewed gene: PACS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 29656858; Phenotypes: Epileptic encephalopathy, early infantile, 66, MIM#618067; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.895 Zornitza Stark Panel name changed from Intellectual disability, syndromic and non-syndromic_GHQ to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS
Regression v0.20 NUP62 Zornitza Stark Classified gene: NUP62 as Green List (high evidence)
Regression v0.20 NUP62 Zornitza Stark Gene: nup62 has been classified as Green List (High Evidence).
Regression v0.19 NUP62 Zornitza Stark Classified gene: NUP62 as Green List (high evidence)
Regression v0.19 NUP62 Zornitza Stark Gene: nup62 has been classified as Green List (High Evidence).
Regression v0.18 NUP62 Zornitza Stark Marked gene: NUP62 as ready
Regression v0.18 NUP62 Zornitza Stark Gene: nup62 has been classified as Red List (Low Evidence).
Regression v0.18 NUP62 Zornitza Stark gene: NUP62 was added
gene: NUP62 was added to Regression_VCGS. Sources: Expert Review
Mode of inheritance for gene: NUP62 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NUP62 were set to 16786527
Phenotypes for gene: NUP62 were set to Striatonigral degeneration, infantile, MIM#271930
Review for gene: NUP62 was set to GREEN
Added comment: Multiple affected individuals, variable age of onset, may be after a viral trigger.
Sources: Expert Review
Intellectual disability syndromic and non-syndromic v0.893 NUP62 Zornitza Stark Deleted their comment
Intellectual disability syndromic and non-syndromic v0.893 NUP62 Zornitza Stark Marked gene: NUP62 as ready
Intellectual disability syndromic and non-syndromic v0.893 NUP62 Zornitza Stark Added comment: Comment when marking as ready: Multiple affected individuals, age of onset variable, may be after viral trigger.
Intellectual disability syndromic and non-syndromic v0.893 NUP62 Zornitza Stark Gene: nup62 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.893 NUP62 Zornitza Stark Publications for gene: NUP62 were set to
Intellectual disability syndromic and non-syndromic v0.892 NUP62 Zornitza Stark Phenotypes for gene: NUP62 were changed from to Striatonigral degeneration, infantile, MIM#271930
Intellectual disability syndromic and non-syndromic v0.891 NUP62 Zornitza Stark Mode of inheritance for gene: NUP62 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.890 NUP62 Zornitza Stark Classified gene: NUP62 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.890 NUP62 Zornitza Stark Gene: nup62 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.889 NUP62 Zornitza Stark reviewed gene: NUP62: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Striatonigral degeneration, infantile, MIM#271930; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.889 NRXN2 Zornitza Stark Marked gene: NRXN2 as ready
Intellectual disability syndromic and non-syndromic v0.889 NRXN2 Zornitza Stark Gene: nrxn2 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.889 NRXN2 Zornitza Stark Phenotypes for gene: NRXN2 were changed from to Autism
Intellectual disability syndromic and non-syndromic v0.888 NRXN2 Zornitza Stark Publications for gene: NRXN2 were set to
Intellectual disability syndromic and non-syndromic v0.887 NRXN2 Zornitza Stark Mode of inheritance for gene: NRXN2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.886 NRXN2 Zornitza Stark Classified gene: NRXN2 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.886 NRXN2 Zornitza Stark Gene: nrxn2 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.885 NRXN2 Zornitza Stark reviewed gene: NRXN2: Rating: RED; Mode of pathogenicity: None; Publications: 21424692, 30709877, 25745399; Phenotypes: Autism; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.885 NR4A2 Zornitza Stark Marked gene: NR4A2 as ready
Intellectual disability syndromic and non-syndromic v0.885 NR4A2 Zornitza Stark Gene: nr4a2 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.885 NR4A2 Zornitza Stark Phenotypes for gene: NR4A2 were changed from to Intellectual disability; rolandic epilepsy; autism
Intellectual disability syndromic and non-syndromic v0.884 NR4A2 Zornitza Stark Publications for gene: NR4A2 were set to
Intellectual disability syndromic and non-syndromic v0.883 NR4A2 Zornitza Stark Mode of inheritance for gene: NR4A2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.882 NR4A2 Zornitza Stark Classified gene: NR4A2 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.882 NR4A2 Zornitza Stark Gene: nr4a2 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.881 NR4A2 Zornitza Stark reviewed gene: NR4A2: Rating: AMBER; Mode of pathogenicity: None; Publications: 31428396, 30504930, 29770430; Phenotypes: Intellectual disability, rolandic epilepsy, autism; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.881 NIN Zornitza Stark Marked gene: NIN as ready
Intellectual disability syndromic and non-syndromic v0.881 NIN Zornitza Stark Gene: nin has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.881 NIN Zornitza Stark Phenotypes for gene: NIN were changed from to Seckel syndrome 7, MIM#614851
Intellectual disability syndromic and non-syndromic v0.880 NIN Zornitza Stark Publications for gene: NIN were set to
Intellectual disability syndromic and non-syndromic v0.879 NIN Zornitza Stark Mode of inheritance for gene: NIN was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.878 NIN Zornitza Stark Classified gene: NIN as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.878 NIN Zornitza Stark Gene: nin has been classified as Red List (Low Evidence).
Aortopathy_Connective Tissue Disorders v0.4 NPR3 Zornitza Stark Marked gene: NPR3 as ready
Aortopathy_Connective Tissue Disorders v0.4 NPR3 Zornitza Stark Gene: npr3 has been classified as Green List (High Evidence).
Aortopathy_Connective Tissue Disorders v0.4 NPR3 Zornitza Stark Classified gene: NPR3 as Green List (high evidence)
Aortopathy_Connective Tissue Disorders v0.4 NPR3 Zornitza Stark Gene: npr3 has been classified as Green List (High Evidence).
Aortopathy_Connective Tissue Disorders v0.3 NPR3 Zornitza Stark gene: NPR3 was added
gene: NPR3 was added to Aortopathy, Connective tissue disorder_VCGS. Sources: Literature
Mode of inheritance for gene: NPR3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NPR3 were set to 30032985
Phenotypes for gene: NPR3 were set to Tall stature, skeletal abnormalities, aortic dilatation
Review for gene: NPR3 was set to GREEN
Added comment: 4 individuals from three unrelated families.
Sources: Literature
Overgrowth v0.4 NPR3 Zornitza Stark Marked gene: NPR3 as ready
Overgrowth v0.4 NPR3 Zornitza Stark Gene: npr3 has been classified as Green List (High Evidence).
Overgrowth v0.4 NPR3 Zornitza Stark Phenotypes for gene: NPR3 were changed from to Tall stature, skeletal abnormalities, aortic dilatation
Overgrowth v0.3 NPR3 Zornitza Stark Publications for gene: NPR3 were set to
Overgrowth v0.3 NPR3 Zornitza Stark Mode of inheritance for gene: NPR3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Overgrowth v0.2 NPR3 Zornitza Stark reviewed gene: NPR3: Rating: GREEN; Mode of pathogenicity: None; Publications: 30032985; Phenotypes: Tall stature, skeletal abnormalities, aortic dilatation; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.877 NOTCH3 Zornitza Stark Marked gene: NOTCH3 as ready
Intellectual disability syndromic and non-syndromic v0.877 NOTCH3 Zornitza Stark Gene: notch3 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.877 NOTCH3 Zornitza Stark Phenotypes for gene: NOTCH3 were changed from to Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1, MIM#125310
Intellectual disability syndromic and non-syndromic v0.876 NOTCH3 Zornitza Stark Mode of inheritance for gene: NOTCH3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.875 NOTCH3 Zornitza Stark Classified gene: NOTCH3 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.875 NOTCH3 Zornitza Stark Gene: notch3 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.874 NOTCH3 Zornitza Stark reviewed gene: NOTCH3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1, MIM#125310; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Combined Immunodeficiency v0.5 NOP10 Zornitza Stark Marked gene: NOP10 as ready
Combined Immunodeficiency v0.5 NOP10 Zornitza Stark Gene: nop10 has been classified as Red List (Low Evidence).
Combined Immunodeficiency v0.5 NOP10 Zornitza Stark Mode of inheritance for gene: NOP10 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Combined Immunodeficiency v0.4 NOP10 Zornitza Stark Phenotypes for gene: NOP10 were changed from to Dyskeratosis congenita, autosomal recessive 1, MIM#224230
Combined Immunodeficiency v0.4 NOP10 Zornitza Stark Mode of inheritance for gene: NOP10 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Combined Immunodeficiency v0.4 NOP10 Zornitza Stark Publications for gene: NOP10 were set to
Combined Immunodeficiency v0.3 NOP10 Zornitza Stark Classified gene: NOP10 as Red List (low evidence)
Combined Immunodeficiency v0.3 NOP10 Zornitza Stark Gene: nop10 has been classified as Red List (Low Evidence).
Mendeliome v0.202 NOP10 Zornitza Stark Marked gene: NOP10 as ready
Mendeliome v0.202 NOP10 Zornitza Stark Gene: nop10 has been classified as Red List (Low Evidence).
Mendeliome v0.202 NOP10 Zornitza Stark Phenotypes for gene: NOP10 were changed from to Dyskeratosis congenita, autosomal recessive 1, MIM#224230
Mendeliome v0.201 NOP10 Zornitza Stark Publications for gene: NOP10 were set to
Mendeliome v0.200 NOP10 Zornitza Stark Mode of inheritance for gene: NOP10 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.199 NOP10 Zornitza Stark Classified gene: NOP10 as Red List (low evidence)
Mendeliome v0.199 NOP10 Zornitza Stark Gene: nop10 has been classified as Red List (Low Evidence).
Cancer Predisposition_Paediatric v0.8 NOP10 Zornitza Stark Marked gene: NOP10 as ready
Cancer Predisposition_Paediatric v0.8 NOP10 Zornitza Stark Gene: nop10 has been classified as Red List (Low Evidence).
Cancer Predisposition_Paediatric v0.8 NOP10 Zornitza Stark Mode of inheritance for gene: NOP10 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cancer Predisposition_Paediatric v0.7 NOP10 Zornitza Stark Phenotypes for gene: NOP10 were changed from to Dyskeratosis congenita, autosomal recessive 1, MIM#224230
Cancer Predisposition_Paediatric v0.6 NOP10 Zornitza Stark Publications for gene: NOP10 were set to
Cancer Predisposition_Paediatric v0.5 NOP10 Zornitza Stark Classified gene: NOP10 as Red List (low evidence)
Cancer Predisposition_Paediatric v0.5 NOP10 Zornitza Stark Gene: nop10 has been classified as Red List (Low Evidence).
Bone Marrow Failure v0.8 NOP10 Zornitza Stark Marked gene: NOP10 as ready
Bone Marrow Failure v0.8 NOP10 Zornitza Stark Gene: nop10 has been classified as Red List (Low Evidence).
Bone Marrow Failure v0.8 NOP10 Zornitza Stark Phenotypes for gene: NOP10 were changed from to Dyskeratosis congenita, autosomal recessive 1, MIM#224230
Bone Marrow Failure v0.7 NOP10 Zornitza Stark Publications for gene: NOP10 were set to 17507419
Bone Marrow Failure v0.6 NOP10 Zornitza Stark Mode of inheritance for gene: NOP10 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Bone Marrow Failure v0.5 NOP10 Zornitza Stark Classified gene: NOP10 as Red List (low evidence)
Bone Marrow Failure v0.5 NOP10 Zornitza Stark Gene: nop10 has been classified as Red List (Low Evidence).
Bone Marrow Failure v0.4 NOP10 Zornitza Stark Publications for gene: NOP10 were set to
Bone Marrow Failure v0.4 NOP10 Zornitza Stark Mode of inheritance for gene: NOP10 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Bone Marrow Failure v0.4 NOP10 Zornitza Stark Classified gene: NOP10 as Red List (low evidence)
Bone Marrow Failure v0.4 NOP10 Zornitza Stark Gene: nop10 has been classified as Red List (Low Evidence).
Bone Marrow Failure v0.3 NOP10 Zornitza Stark reviewed gene: NOP10: Rating: RED; Mode of pathogenicity: None; Publications: 17507419; Phenotypes: Dyskeratosis congenita, autosomal recessive 1, MIM#224230; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.874 NOP10 Zornitza Stark Marked gene: NOP10 as ready
Intellectual disability syndromic and non-syndromic v0.874 NOP10 Zornitza Stark Gene: nop10 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.874 NOP10 Zornitza Stark Phenotypes for gene: NOP10 were changed from to Dyskeratosis congenita, autosomal recessive 1, MIM#224230
Intellectual disability syndromic and non-syndromic v0.873 NOP10 Zornitza Stark Publications for gene: NOP10 were set to
Intellectual disability syndromic and non-syndromic v0.872 NOP10 Zornitza Stark Mode of inheritance for gene: NOP10 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.871 NOP10 Zornitza Stark Classified gene: NOP10 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.871 NOP10 Zornitza Stark Gene: nop10 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.870 NOP10 Zornitza Stark reviewed gene: NOP10: Rating: RED; Mode of pathogenicity: None; Publications: 17507419; Phenotypes: Dyskeratosis congenita, autosomal recessive 1, MIM#224230; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.197 NIN Zornitza Stark Marked gene: NIN as ready
Mendeliome v0.197 NIN Zornitza Stark Gene: nin has been classified as Red List (Low Evidence).
Mendeliome v0.197 NIN Zornitza Stark Phenotypes for gene: NIN were changed from to Seckel syndrome 7, MIM#614851
Mendeliome v0.196 NIN Zornitza Stark Publications for gene: NIN were set to
Mendeliome v0.195 NIN Zornitza Stark Mode of inheritance for gene: NIN was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.194 NIN Zornitza Stark Classified gene: NIN as Red List (low evidence)
Mendeliome v0.194 NIN Zornitza Stark Gene: nin has been classified as Red List (Low Evidence).
Mendeliome v0.193 NIN Zornitza Stark reviewed gene: NIN: Rating: RED; Mode of pathogenicity: None; Publications: 22933543; Phenotypes: Seckel syndrome 7, MIM#614851; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Microcephaly v0.19 NIN Zornitza Stark Marked gene: NIN as ready
Microcephaly v0.19 NIN Zornitza Stark Gene: nin has been classified as Red List (Low Evidence).
Microcephaly v0.19 NIN Zornitza Stark Phenotypes for gene: NIN were changed from to Seckel syndrome 7, MIM#614851
Microcephaly v0.18 NIN Zornitza Stark Publications for gene: NIN were set to
Microcephaly v0.17 NIN Zornitza Stark Classified gene: NIN as Red List (low evidence)
Microcephaly v0.17 NIN Zornitza Stark Gene: nin has been classified as Red List (Low Evidence).
Microcephaly v0.16 NIN Zornitza Stark Mode of inheritance for gene: NIN was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Microcephaly v0.16 NIN Zornitza Stark Classified gene: NIN as Red List (low evidence)
Microcephaly v0.16 NIN Zornitza Stark Gene: nin has been classified as Red List (Low Evidence).
Callosome v0.40 NIN Zornitza Stark Marked gene: NIN as ready
Callosome v0.40 NIN Zornitza Stark Gene: nin has been classified as Red List (Low Evidence).
Callosome v0.40 NIN Zornitza Stark Phenotypes for gene: NIN were changed from to Seckel syndrome 7, MIM#614851
Callosome v0.39 NIN Zornitza Stark Publications for gene: NIN were set to
Callosome v0.38 NIN Zornitza Stark Classified gene: NIN as Red List (low evidence)
Callosome v0.38 NIN Zornitza Stark Gene: nin has been classified as Red List (Low Evidence).
Callosome v0.37 NIN Zornitza Stark Mode of inheritance for gene: NIN was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Callosome v0.37 NIN Zornitza Stark Classified gene: NIN as Red List (low evidence)
Callosome v0.37 NIN Zornitza Stark Gene: nin has been classified as Red List (Low Evidence).
Callosome v0.36 NIN Zornitza Stark reviewed gene: NIN: Rating: RED; Mode of pathogenicity: None; Publications: 22933543; Phenotypes: Seckel syndrome 7, MIM#614851; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.870 NIN Zornitza Stark reviewed gene: NIN: Rating: RED; Mode of pathogenicity: None; Publications: 22933543; Phenotypes: Seckel syndrome 7, MIM#614851; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.870 NHLRC1 Zornitza Stark Marked gene: NHLRC1 as ready
Intellectual disability syndromic and non-syndromic v0.870 NHLRC1 Zornitza Stark Gene: nhlrc1 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.870 NHLRC1 Zornitza Stark Phenotypes for gene: NHLRC1 were changed from to Epilepsy, progressive myoclonic 2B (Lafora), MIM#254780
Intellectual disability syndromic and non-syndromic v0.869 NHLRC1 Zornitza Stark Mode of inheritance for gene: NHLRC1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.868 NHLRC1 Zornitza Stark Classified gene: NHLRC1 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.868 NHLRC1 Zornitza Stark Gene: nhlrc1 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.867 NHLRC1 Zornitza Stark reviewed gene: NHLRC1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Epilepsy, progressive myoclonic 2B (Lafora), MIM#254780; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.867 NFIB Zornitza Stark Marked gene: NFIB as ready
Intellectual disability syndromic and non-syndromic v0.867 NFIB Zornitza Stark Gene: nfib has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.867 NFIB Zornitza Stark Classified gene: NFIB as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.867 NFIB Zornitza Stark Gene: nfib has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.866 NFIB Zornitza Stark gene: NFIB was added
gene: NFIB was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert list
Mode of inheritance for gene: NFIB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: NFIB were set to 30388402
Phenotypes for gene: NFIB were set to Macrocephaly, acquired, with impaired intellectual development, MIM#618286
Review for gene: NFIB was set to GREEN
Added comment: 18 individuals reported, of whom 11 had deletions of this gene and the rest had SNVs.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.865 NEGR1 Zornitza Stark Marked gene: NEGR1 as ready
Intellectual disability syndromic and non-syndromic v0.865 NEGR1 Zornitza Stark Gene: negr1 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.865 NEGR1 Zornitza Stark Classified gene: NEGR1 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.865 NEGR1 Zornitza Stark Gene: negr1 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.864 NEGR1 Zornitza Stark reviewed gene: NEGR1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Intellectual disability syndromic and non-syndromic v0.864 NEDD4L Zornitza Stark Marked gene: NEDD4L as ready
Intellectual disability syndromic and non-syndromic v0.864 NEDD4L Zornitza Stark Gene: nedd4l has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.864 NEDD4L Zornitza Stark Phenotypes for gene: NEDD4L were changed from to Periventricular nodular heterotopia 7, MIM#617201
Intellectual disability syndromic and non-syndromic v0.863 NEDD4L Zornitza Stark Mode of inheritance for gene: NEDD4L was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.862 NEDD4L Zornitza Stark reviewed gene: NEDD4L: Rating: GREEN; Mode of pathogenicity: None; Publications: 27694961; Phenotypes: Periventricular nodular heterotopia 7, MIM#617201; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.193 NECAP1 Zornitza Stark Marked gene: NECAP1 as ready
Mendeliome v0.193 NECAP1 Zornitza Stark Gene: necap1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.193 NECAP1 Zornitza Stark Phenotypes for gene: NECAP1 were changed from to Epileptic encephalopathy, early infantile, 21, MIM#615833
Mendeliome v0.192 NECAP1 Zornitza Stark Publications for gene: NECAP1 were set to
Mendeliome v0.191 NECAP1 Zornitza Stark Mode of inheritance for gene: NECAP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.190 NECAP1 Zornitza Stark Classified gene: NECAP1 as Amber List (moderate evidence)
Mendeliome v0.190 NECAP1 Zornitza Stark Gene: necap1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.189 EXT2 Zornitza Stark Phenotypes for gene: EXT2 were changed from to Seizures, scoliosis, and macrocephaly syndrome, MIM#616682
Mendeliome v0.188 EXT2 Zornitza Stark Mode of inheritance for gene: EXT2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.18 NECAP1 Zornitza Stark Marked gene: NECAP1 as ready
Genetic Epilepsy v0.18 NECAP1 Zornitza Stark Gene: necap1 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.18 NECAP1 Zornitza Stark Classified gene: NECAP1 as Amber List (moderate evidence)
Genetic Epilepsy v0.18 NECAP1 Zornitza Stark Gene: necap1 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.17 NECAP1 Zornitza Stark gene: NECAP1 was added
gene: NECAP1 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Literature
Mode of inheritance for gene: NECAP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NECAP1 were set to 24399846; 30626896; 30525121
Phenotypes for gene: NECAP1 were set to Epileptic encephalopathy, early infantile, 21, MIM#615833
Review for gene: NECAP1 was set to AMBER
Added comment: Three families, but two of these have the same founder variant; no functional data.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.862 NECAP1 Zornitza Stark Marked gene: NECAP1 as ready
Intellectual disability syndromic and non-syndromic v0.862 NECAP1 Zornitza Stark Gene: necap1 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.862 NECAP1 Zornitza Stark Phenotypes for gene: NECAP1 were changed from to Epileptic encephalopathy, early infantile, 21, MIM#615833
Intellectual disability syndromic and non-syndromic v0.861 NECAP1 Zornitza Stark Publications for gene: NECAP1 were set to
Intellectual disability syndromic and non-syndromic v0.860 NECAP1 Zornitza Stark Mode of inheritance for gene: NECAP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.859 NECAP1 Zornitza Stark Classified gene: NECAP1 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.859 NECAP1 Zornitza Stark Added comment: Comment on list classification: Three families, but two of these have the same founder variant; no functional data.
Intellectual disability syndromic and non-syndromic v0.859 NECAP1 Zornitza Stark Gene: necap1 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.858 NECAP1 Zornitza Stark reviewed gene: NECAP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24399846, 30626896, 30525121; Phenotypes: Epileptic encephalopathy, early infantile, 21, MIM#615833; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.858 NDUFV2 Zornitza Stark Marked gene: NDUFV2 as ready
Intellectual disability syndromic and non-syndromic v0.858 NDUFV2 Zornitza Stark Gene: ndufv2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.858 NDUFV2 Zornitza Stark Phenotypes for gene: NDUFV2 were changed from to Mitochondrial complex I deficiency, nuclear type 7, MIM#618229
Intellectual disability syndromic and non-syndromic v0.857 NDUFV2 Zornitza Stark Publications for gene: NDUFV2 were set to
Intellectual disability syndromic and non-syndromic v0.856 NDUFV2 Zornitza Stark Mode of inheritance for gene: NDUFV2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.855 NDUFV2 Zornitza Stark reviewed gene: NDUFV2: Rating: GREEN; Mode of pathogenicity: None; Publications: 12754703, 26008862, 29554876; Phenotypes: Mitochondrial complex I deficiency, nuclear type 7, MIM#618229; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.855 NDUFS6 Zornitza Stark Marked gene: NDUFS6 as ready
Intellectual disability syndromic and non-syndromic v0.855 NDUFS6 Zornitza Stark Gene: ndufs6 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.855 NDUFS6 Zornitza Stark Phenotypes for gene: NDUFS6 were changed from to Mitochondrial complex I deficiency, nuclear type 9, MIM#618232
Intellectual disability syndromic and non-syndromic v0.854 NDUFS6 Zornitza Stark Publications for gene: NDUFS6 were set to
Intellectual disability syndromic and non-syndromic v0.853 NDUFS6 Zornitza Stark Mode of inheritance for gene: NDUFS6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.852 NDUFS6 Zornitza Stark reviewed gene: NDUFS6: Rating: GREEN; Mode of pathogenicity: None; Publications: 15372108, 19259137, 30948790, 22474353; Phenotypes: Mitochondrial complex I deficiency, nuclear type 9, MIM#618232; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.852 NDUFS3 Zornitza Stark Marked gene: NDUFS3 as ready
Intellectual disability syndromic and non-syndromic v0.852 NDUFS3 Zornitza Stark Gene: ndufs3 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.852 NDUFS3 Zornitza Stark Phenotypes for gene: NDUFS3 were changed from to Mitochondrial complex I deficiency, nuclear type 8, MIM#618230
Intellectual disability syndromic and non-syndromic v0.851 NDUFS3 Zornitza Stark Publications for gene: NDUFS3 were set to
Intellectual disability syndromic and non-syndromic v0.850 NDUFS3 Zornitza Stark Mode of inheritance for gene: NDUFS3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.849 NDUFS3 Zornitza Stark reviewed gene: NDUFS3: Rating: GREEN; Mode of pathogenicity: None; Publications: 14729820, 22499348, 30140060; Phenotypes: Mitochondrial complex I deficiency, nuclear type 8, MIM#618230; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.849 NDUFS2 Zornitza Stark Marked gene: NDUFS2 as ready
Intellectual disability syndromic and non-syndromic v0.849 NDUFS2 Zornitza Stark Gene: ndufs2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.849 NDUFS2 Zornitza Stark Phenotypes for gene: NDUFS2 were changed from to Mitochondrial complex I deficiency, nuclear type 6, MIM#618228
Intellectual disability syndromic and non-syndromic v0.848 NDUFS2 Zornitza Stark Publications for gene: NDUFS2 were set to
Intellectual disability syndromic and non-syndromic v0.847 NDUFS2 Zornitza Stark Mode of inheritance for gene: NDUFS2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.846 NDUFS2 Zornitza Stark reviewed gene: NDUFS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 11220739, 31411514, 29272804; Phenotypes: Mitochondrial complex I deficiency, nuclear type 6, MIM#618228; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.186 NDUFB9 Zornitza Stark Marked gene: NDUFB9 as ready
Mendeliome v0.186 NDUFB9 Zornitza Stark Gene: ndufb9 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.186 NDUFB9 Zornitza Stark Phenotypes for gene: NDUFB9 were changed from to Mitochondrial complex I deficiency, nuclear type 24, MIM#618245
Mendeliome v0.185 NDUFB9 Zornitza Stark Publications for gene: NDUFB9 were set to
Mendeliome v0.184 NDUFB9 Zornitza Stark Mode of inheritance for gene: NDUFB9 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.183 NDUFB9 Zornitza Stark Classified gene: NDUFB9 as Amber List (moderate evidence)
Mendeliome v0.183 NDUFB9 Zornitza Stark Gene: ndufb9 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.182 NDUFB9 Zornitza Stark reviewed gene: NDUFB9: Rating: AMBER; Mode of pathogenicity: None; Publications: 22200994; Phenotypes: Mitochondrial complex I deficiency, nuclear type 24, MIM#618245; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.24 NDUFB9 Zornitza Stark Phenotypes for gene: NDUFB9 were changed from to Mitochondrial complex I deficiency, nuclear type 24, MIM#618245
Mitochondrial disease v0.24 NDUFB9 Zornitza Stark Marked gene: NDUFB9 as ready
Mitochondrial disease v0.24 NDUFB9 Zornitza Stark Gene: ndufb9 has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.24 NDUFB9 Zornitza Stark Mode of inheritance for gene: NDUFB9 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.24 NDUFB9 Zornitza Stark Classified gene: NDUFB9 as Amber List (moderate evidence)
Mitochondrial disease v0.24 NDUFB9 Zornitza Stark Gene: ndufb9 has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.23 NDUFB9 Zornitza Stark reviewed gene: NDUFB9: Rating: AMBER; Mode of pathogenicity: None; Publications: 22200994; Phenotypes: Mitochondrial complex I deficiency, nuclear type 24, MIM#618245; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.846 NDUFB9 Zornitza Stark Phenotypes for gene: NDUFB9 were changed from to Mitochondrial complex I deficiency, nuclear type 24, MIM#618245
Intellectual disability syndromic and non-syndromic v0.845 NDUFB9 Zornitza Stark Publications for gene: NDUFB9 were set to
Intellectual disability syndromic and non-syndromic v0.844 NDUFB9 Zornitza Stark Classified gene: NDUFB9 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.844 NDUFB9 Zornitza Stark Gene: ndufb9 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.843 NDUFB9 Zornitza Stark reviewed gene: NDUFB9: Rating: AMBER; Mode of pathogenicity: None; Publications: 22200994; Phenotypes: Mitochondrial complex I deficiency, nuclear type 24, MIM#618245; Mode of inheritance: None
Intellectual disability syndromic and non-syndromic v0.843 NDUFB3 Zornitza Stark Marked gene: NDUFB3 as ready
Intellectual disability syndromic and non-syndromic v0.843 NDUFB3 Zornitza Stark Gene: ndufb3 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.843 NDUFB3 Zornitza Stark Phenotypes for gene: NDUFB3 were changed from to Mitochondrial complex I deficiency, nuclear type 25, MIM#618246
Intellectual disability syndromic and non-syndromic v0.842 NDUFB3 Zornitza Stark Publications for gene: NDUFB3 were set to
Intellectual disability syndromic and non-syndromic v0.841 NDUFB3 Zornitza Stark Mode of inheritance for gene: NDUFB3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.840 NDUFB3 Zornitza Stark reviewed gene: NDUFB3: Rating: GREEN; Mode of pathogenicity: None; Publications: 22277967, 22499348, 27091925; Phenotypes: Mitochondrial complex I deficiency, nuclear type 25, MIM#618246; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.840 NDUFAF6 Zornitza Stark Marked gene: NDUFAF6 as ready
Intellectual disability syndromic and non-syndromic v0.840 NDUFAF6 Zornitza Stark Gene: ndufaf6 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.840 NDUFAF6 Zornitza Stark Phenotypes for gene: NDUFAF6 were changed from to Mitochondrial complex I deficiency, nuclear type 17, MIM#618239
Intellectual disability syndromic and non-syndromic v0.839 NDUFAF6 Zornitza Stark Publications for gene: NDUFAF6 were set to
Intellectual disability syndromic and non-syndromic v0.838 NDUFAF6 Zornitza Stark Mode of inheritance for gene: NDUFAF6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.837 NDUFAF6 Zornitza Stark reviewed gene: NDUFAF6: Rating: GREEN; Mode of pathogenicity: None; Publications: 26741492, 18614015; Phenotypes: Mitochondrial complex I deficiency, nuclear type 17, MIM#618239; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.837 NDUFAF4 Zornitza Stark Marked gene: NDUFAF4 as ready
Intellectual disability syndromic and non-syndromic v0.837 NDUFAF4 Zornitza Stark Gene: ndufaf4 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.837 NDUFAF4 Zornitza Stark Phenotypes for gene: NDUFAF4 were changed from to Mitochondrial complex I deficiency, nuclear type 15, MIM#618237
Intellectual disability syndromic and non-syndromic v0.836 NDUFAF4 Zornitza Stark Publications for gene: NDUFAF4 were set to
Intellectual disability syndromic and non-syndromic v0.835 NDUFAF4 Zornitza Stark Mode of inheritance for gene: NDUFAF4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.834 NDUFAF4 Zornitza Stark reviewed gene: NDUFAF4: Rating: GREEN; Mode of pathogenicity: None; Publications: 18179882, 28853723; Phenotypes: Mitochondrial complex I deficiency, nuclear type 15, MIM#618237; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.834 NDUFAF3 Zornitza Stark Marked gene: NDUFAF3 as ready
Intellectual disability syndromic and non-syndromic v0.834 NDUFAF3 Zornitza Stark Gene: ndufaf3 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.834 NDUFAF3 Zornitza Stark Phenotypes for gene: NDUFAF3 were changed from to Mitochondrial complex I deficiency, nuclear type 18, MIM#618240
Intellectual disability syndromic and non-syndromic v0.833 NDUFAF3 Zornitza Stark Publications for gene: NDUFAF3 were set to
Intellectual disability syndromic and non-syndromic v0.832 NDUFAF3 Zornitza Stark Mode of inheritance for gene: NDUFAF3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.831 NDUFAF3 Zornitza Stark reviewed gene: NDUFAF3: Rating: GREEN; Mode of pathogenicity: None; Publications: 19463981; Phenotypes: Mitochondrial complex I deficiency, nuclear type 18, MIM#618240; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.831 NDUFAF2 Zornitza Stark Marked gene: NDUFAF2 as ready
Intellectual disability syndromic and non-syndromic v0.831 NDUFAF2 Zornitza Stark Gene: ndufaf2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.831 NDUFAF2 Zornitza Stark Phenotypes for gene: NDUFAF2 were changed from to Mitochondrial complex I deficiency, nuclear type 10, MIM#618233
Intellectual disability syndromic and non-syndromic v0.830 NDUFAF2 Zornitza Stark Publications for gene: NDUFAF2 were set to
Intellectual disability syndromic and non-syndromic v0.829 NDUFAF2 Zornitza Stark Mode of inheritance for gene: NDUFAF2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.828 NDUFAF2 Zornitza Stark reviewed gene: NDUFAF2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial complex I deficiency, nuclear type 10, MIM#618233; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.828 NDUFAF1 Zornitza Stark reviewed gene: NDUFAF1: Rating: GREEN; Mode of pathogenicity: None; Publications: 17557076, 21931170, 24963768; Phenotypes: Mitochondrial complex I deficiency, nuclear type 11, MIM#618234; Mode of inheritance: None
Intellectual disability syndromic and non-syndromic v0.828 NDUFA9 Zornitza Stark Marked gene: NDUFA9 as ready
Intellectual disability syndromic and non-syndromic v0.828 NDUFA9 Zornitza Stark Gene: ndufa9 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.828 NDUFA9 Zornitza Stark Phenotypes for gene: NDUFA9 were changed from to Mitochondrial complex I deficiency, nuclear type 26, MIM#618247
Intellectual disability syndromic and non-syndromic v0.827 NDUFA9 Zornitza Stark Publications for gene: NDUFA9 were set to
Intellectual disability syndromic and non-syndromic v0.826 NDUFA9 Zornitza Stark Mode of inheritance for gene: NDUFA9 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.825 NDUFA9 Zornitza Stark reviewed gene: NDUFA9: Rating: GREEN; Mode of pathogenicity: None; Publications: 28671271, 22114105; Phenotypes: Mitochondrial complex I deficiency, nuclear type 26, MIM#618247; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.825 NDUFA2 Zornitza Stark reviewed gene: NDUFA2: Rating: GREEN; Mode of pathogenicity: None; Publications: 18513682, 28857146; Phenotypes: Mitochondrial complex I deficiency, nuclear type 13, MIM#618235; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.825 NDUFA11 Zornitza Stark Marked gene: NDUFA11 as ready
Intellectual disability syndromic and non-syndromic v0.825 NDUFA11 Zornitza Stark Gene: ndufa11 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.825 NDUFA11 Zornitza Stark Phenotypes for gene: NDUFA11 were changed from to Mitochondrial complex I deficiency, nuclear type 14, MIM#618236
Intellectual disability syndromic and non-syndromic v0.824 NDUFA11 Zornitza Stark Publications for gene: NDUFA11 were set to
Intellectual disability syndromic and non-syndromic v0.823 NDUFA11 Zornitza Stark Mode of inheritance for gene: NDUFA11 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.822 NDUFA11 Zornitza Stark Classified gene: NDUFA11 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.822 NDUFA11 Zornitza Stark Gene: ndufa11 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.821 NDUFA11 Zornitza Stark reviewed gene: NDUFA11: Rating: AMBER; Mode of pathogenicity: None; Publications: 18306244, 31074871; Phenotypes: Mitochondrial complex I deficiency, nuclear type 14, MIM#618236; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.821 NDUFA10 Zornitza Stark Marked gene: NDUFA10 as ready
Intellectual disability syndromic and non-syndromic v0.821 NDUFA10 Zornitza Stark Gene: ndufa10 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.821 NDUFA10 Zornitza Stark Phenotypes for gene: NDUFA10 were changed from to Mitochondrial complex I deficiency, nuclear type 22, MIM#618243
Intellectual disability syndromic and non-syndromic v0.820 NDUFA10 Zornitza Stark Publications for gene: NDUFA10 were set to
Intellectual disability syndromic and non-syndromic v0.819 NDUFA10 Zornitza Stark Mode of inheritance for gene: NDUFA10 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.818 NDUFA10 Zornitza Stark reviewed gene: NDUFA10: Rating: GREEN; Mode of pathogenicity: None; Publications: 21150889, 26741492; Phenotypes: Mitochondrial complex I deficiency, nuclear type 22, MIM#618243; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.818 NDN Zornitza Stark Marked gene: NDN as ready
Intellectual disability syndromic and non-syndromic v0.818 NDN Zornitza Stark Gene: ndn has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.818 NDN Zornitza Stark Classified gene: NDN as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.818 NDN Zornitza Stark Gene: ndn has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.817 NDN Zornitza Stark reviewed gene: NDN: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Intellectual disability syndromic and non-syndromic v0.817 NAGS Zornitza Stark Marked gene: NAGS as ready
Intellectual disability syndromic and non-syndromic v0.817 NAGS Zornitza Stark Gene: nags has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.817 NAGS Zornitza Stark Phenotypes for gene: NAGS were changed from to N-acetylglutamate synthase deficiency, MIM#237310
Intellectual disability syndromic and non-syndromic v0.816 NAGS Zornitza Stark Mode of inheritance for gene: NAGS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.815 NAGS Zornitza Stark Classified gene: NAGS as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.815 NAGS Zornitza Stark Gene: nags has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.814 NAGS Zornitza Stark reviewed gene: NAGS: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: N-acetylglutamate synthase deficiency, MIM#237310; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Callosome v0.36 MRPS16 Zornitza Stark Marked gene: MRPS16 as ready
Callosome v0.36 MRPS16 Zornitza Stark Gene: mrps16 has been classified as Amber List (Moderate Evidence).
Callosome v0.36 MRPS16 Zornitza Stark Phenotypes for gene: MRPS16 were changed from to Combined oxidative phosphorylation deficiency 2; OMIM #610498
Callosome v0.35 MRPS16 Zornitza Stark Mode of inheritance for gene: MRPS16 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Callosome v0.34 MRPS16 Zornitza Stark Publications for gene: MRPS16 were set to
Callosome v0.33 MRPS16 Zornitza Stark Classified gene: MRPS16 as Amber List (moderate evidence)
Callosome v0.33 MRPS16 Zornitza Stark Gene: mrps16 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.182 MRPS16 Zornitza Stark Marked gene: MRPS16 as ready
Mendeliome v0.182 MRPS16 Zornitza Stark Gene: mrps16 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.182 MRPS16 Zornitza Stark Marked gene: MRPS16 as ready
Mendeliome v0.182 MRPS16 Zornitza Stark Gene: mrps16 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.182 MRPS16 Zornitza Stark Phenotypes for gene: MRPS16 were changed from to Combined oxidative phosphorylation deficiency 2; OMIM #610498
Mendeliome v0.181 MRPS16 Zornitza Stark Publications for gene: MRPS16 were set to
Mendeliome v0.180 MRPS16 Zornitza Stark Mode of inheritance for gene: MRPS16 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.179 MRPS16 Zornitza Stark Classified gene: MRPS16 as Amber List (moderate evidence)
Mendeliome v0.179 MRPS16 Zornitza Stark Gene: mrps16 has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.23 MRPS16 Zornitza Stark Marked gene: MRPS16 as ready
Mitochondrial disease v0.23 MRPS16 Zornitza Stark Gene: mrps16 has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.23 MRPS16 Zornitza Stark Classified gene: MRPS16 as Amber List (moderate evidence)
Mitochondrial disease v0.23 MRPS16 Zornitza Stark Added comment: Comment on list classification: Amber for mitochondrial.
Mitochondrial disease v0.23 MRPS16 Zornitza Stark Gene: mrps16 has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.23 MRPS16 Zornitza Stark Phenotypes for gene: MRPS16 were changed from to Combined oxidative phosphorylation deficiency 2; OMIM #610498
Mitochondrial disease v0.22 MRPS16 Zornitza Stark Publications for gene: MRPS16 were set to
Mitochondrial disease v0.22 MRPS16 Zornitza Stark Mode of inheritance for gene: MRPS16 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.22 MRPS16 Zornitza Stark Classified gene: MRPS16 as Amber List (moderate evidence)
Mitochondrial disease v0.22 MRPS16 Zornitza Stark Added comment: Comment on list classification: Amber for mitochondrial.
Mitochondrial disease v0.22 MRPS16 Zornitza Stark Gene: mrps16 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.177 MRPL3 Zornitza Stark Marked gene: MRPL3 as ready
Mendeliome v0.177 MRPL3 Zornitza Stark Gene: mrpl3 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.177 MRPL3 Zornitza Stark Phenotypes for gene: MRPL3 were changed from to Combined oxidative phosphorylation deficiency 9; OMIM #614582
Mendeliome v0.176 MRPL3 Zornitza Stark Publications for gene: MRPL3 were set to
Mendeliome v0.175 MRPL3 Zornitza Stark Mode of inheritance for gene: MRPL3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.174 MRPL3 Zornitza Stark Classified gene: MRPL3 as Amber List (moderate evidence)
Mendeliome v0.174 MRPL3 Zornitza Stark Gene: mrpl3 has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.19 MRPL3 Zornitza Stark Marked gene: MRPL3 as ready
Mitochondrial disease v0.19 MRPL3 Zornitza Stark Gene: mrpl3 has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.19 MRPL3 Zornitza Stark Phenotypes for gene: MRPL3 were changed from to Combined oxidative phosphorylation deficiency 9; OMIM #614582
Mitochondrial disease v0.18 MRPL3 Zornitza Stark Publications for gene: MRPL3 were set to
Mitochondrial disease v0.17 MRPL3 Zornitza Stark Mode of inheritance for gene: MRPL3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.16 MRPL3 Zornitza Stark Classified gene: MRPL3 as Amber List (moderate evidence)
Mitochondrial disease v0.16 MRPL3 Zornitza Stark Gene: mrpl3 has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.15 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 v0.814 CLCN2 Zornitza Stark Marked gene: CLCN2 as ready
Intellectual disability syndromic and non-syndromic v0.814 CLCN2 Zornitza Stark Gene: clcn2 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.814 CLCN2 Zornitza Stark Phenotypes for gene: CLCN2 were changed from to Leukoencephalopathy with ataxia, MIM#615651
Intellectual disability syndromic and non-syndromic v0.813 CLCN2 Zornitza Stark Publications for gene: CLCN2 were set to
Intellectual disability syndromic and non-syndromic v0.812 CLCN2 Zornitza Stark Mode of inheritance for gene: CLCN2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.811 CLCN2 Zornitza Stark Classified gene: CLCN2 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.811 CLCN2 Zornitza Stark Gene: clcn2 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.810 CISD2 Zornitza Stark Marked gene: CISD2 as ready
Intellectual disability syndromic and non-syndromic v0.810 CISD2 Zornitza Stark Gene: cisd2 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.810 CISD2 Zornitza Stark Phenotypes for gene: CISD2 were changed from to Wolfram syndrome 2, MIM#604928
Intellectual disability syndromic and non-syndromic v0.809 CISD2 Zornitza Stark Mode of inheritance for gene: CISD2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.808 CISD2 Zornitza Stark Classified gene: CISD2 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.808 CISD2 Zornitza Stark Gene: cisd2 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.807 CHST14 Zornitza Stark Marked gene: CHST14 as ready
Intellectual disability syndromic and non-syndromic v0.807 CHST14 Zornitza Stark Gene: chst14 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.807 CHST14 Zornitza Stark Phenotypes for gene: CHST14 were changed from to Ehlers-Danlos syndrome, musculocontractural type 1, MIM#601776
Intellectual disability syndromic and non-syndromic v0.806 CHST14 Zornitza Stark Publications for gene: CHST14 were set to
Intellectual disability syndromic and non-syndromic v0.805 CHST14 Zornitza Stark Mode of inheritance for gene: CHST14 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.804 CHST14 Zornitza Stark Classified gene: CHST14 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.804 CHST14 Zornitza Stark Gene: chst14 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.803 CACNA1E Zornitza Stark Marked gene: CACNA1E as ready
Intellectual disability syndromic and non-syndromic v0.803 CACNA1E Zornitza Stark Gene: cacna1e has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.803 CACNA1E Zornitza Stark Classified gene: CACNA1E as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.803 CACNA1E Zornitza Stark Gene: cacna1e has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.802 ATAD1 Zornitza Stark Marked gene: ATAD1 as ready
Intellectual disability syndromic and non-syndromic v0.802 ATAD1 Zornitza Stark Gene: atad1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.802 ATAD1 Zornitza Stark Classified gene: ATAD1 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.802 ATAD1 Zornitza Stark Gene: atad1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.801 ASTN1 Zornitza Stark Marked gene: ASTN1 as ready
Intellectual disability syndromic and non-syndromic v0.801 ASTN1 Zornitza Stark Gene: astn1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.801 ASTN1 Zornitza Stark Classified gene: ASTN1 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.801 ASTN1 Zornitza Stark Gene: astn1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.800 ASH1L Zornitza Stark Marked gene: ASH1L as ready
Intellectual disability syndromic and non-syndromic v0.800 ASH1L Zornitza Stark Gene: ash1l has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.800 ASH1L Zornitza Stark Classified gene: ASH1L as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.800 ASH1L Zornitza Stark Gene: ash1l has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.799 AGO3 Zornitza Stark Marked gene: AGO3 as ready
Intellectual disability syndromic and non-syndromic v0.799 AGO3 Zornitza Stark Gene: ago3 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.799 AGO3 Zornitza Stark gene: AGO3 was added
gene: AGO3 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert list
Mode of inheritance for gene: AGO3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: AGO3 were set to 25271087
Phenotypes for gene: AGO3 were set to Intellectual disability
Review for gene: AGO3 was set to RED
Added comment: Five children with heterozygous deletions of AGO3 reported; however deletions also encompass AGO1 and therefore gene-disease association cannot be firmly established until SNVs reported/functional data becomes available.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.798 ADRA2B Zornitza Stark Marked gene: ADRA2B as ready
Intellectual disability syndromic and non-syndromic v0.798 ADRA2B Zornitza Stark Gene: adra2b has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.798 ADRA2B Zornitza Stark gene: ADRA2B was added
gene: ADRA2B was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert list
Mode of inheritance for gene: ADRA2B was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: ADRA2B were set to 24114805; 21937992
Phenotypes for gene: ADRA2B were set to Cortical myoclonus and epilepsy; Intellectual disability
Review for gene: ADRA2B was set to RED
Added comment: Two families reported but same mutation, ?founder effect. Most affected individuals had normal intellect.
Another paper linking to AR intellectual disability but as part of manuscript reporting multiple novel candidates.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.797 CFHR3 Zornitza Stark Marked gene: CFHR3 as ready
Intellectual disability syndromic and non-syndromic v0.797 CFHR3 Zornitza Stark Gene: cfhr3 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.797 CFHR3 Zornitza Stark Phenotypes for gene: CFHR3 were changed from to Hemolytic uremic syndrome, atypical, susceptibility to, MIM#235400
Intellectual disability syndromic and non-syndromic v0.796 CFHR3 Zornitza Stark Mode of inheritance for gene: CFHR3 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.795 CFHR3 Zornitza Stark Classified gene: CFHR3 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.795 CFHR3 Zornitza Stark Gene: cfhr3 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.794 CFHR1 Zornitza Stark Marked gene: CFHR1 as ready
Intellectual disability syndromic and non-syndromic v0.794 CFHR1 Zornitza Stark Gene: cfhr1 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.794 CFHR1 Zornitza Stark Phenotypes for gene: CFHR1 were changed from to Hemolytic uremic syndrome, atypical, susceptibility to, MIM#235400
Intellectual disability syndromic and non-syndromic v0.793 CFHR1 Zornitza Stark Mode of inheritance for gene: CFHR1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.792 CFHR1 Zornitza Stark Classified gene: CFHR1 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.792 CFHR1 Zornitza Stark Gene: cfhr1 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.791 CFH Zornitza Stark Marked gene: CFH as ready
Intellectual disability syndromic and non-syndromic v0.791 CFH Zornitza Stark Gene: cfh has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.791 CFH Zornitza Stark Phenotypes for gene: CFH were changed from to Complement factor H deficiency, MIM#609814
Intellectual disability syndromic and non-syndromic v0.790 CFH Zornitza Stark Mode of inheritance for gene: CFH was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.789 CFH Zornitza Stark Classified gene: CFH as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.789 CFH Zornitza Stark Gene: cfh has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.788 CEP89 Zornitza Stark Marked gene: CEP89 as ready
Intellectual disability syndromic and non-syndromic v0.788 CEP89 Zornitza Stark Gene: cep89 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.788 CEP89 Zornitza Stark Phenotypes for gene: CEP89 were changed from to Mitochondrial complex IV deficiency
Intellectual disability syndromic and non-syndromic v0.787 CEP89 Zornitza Stark Publications for gene: CEP89 were set to
Intellectual disability syndromic and non-syndromic v0.786 CEP89 Zornitza Stark Mode of inheritance for gene: CEP89 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.785 CEP89 Zornitza Stark Classified gene: CEP89 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.785 CEP89 Zornitza Stark Gene: cep89 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.784 CEP63 Zornitza Stark Marked gene: CEP63 as ready
Intellectual disability syndromic and non-syndromic v0.784 CEP63 Zornitza Stark Gene: cep63 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.784 CEP63 Zornitza Stark Phenotypes for gene: CEP63 were changed from to Seckel syndrome 6, MIM#614728
Intellectual disability syndromic and non-syndromic v0.783 CEP63 Zornitza Stark Publications for gene: CEP63 were set to
Intellectual disability syndromic and non-syndromic v0.782 CEP63 Zornitza Stark Mode of inheritance for gene: CEP63 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.781 CEP63 Zornitza Stark Classified gene: CEP63 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.781 CEP63 Zornitza Stark Gene: cep63 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.172 WDR91 Sebastian Lunke Marked gene: WDR91 as ready
Mendeliome v0.172 WDR91 Sebastian Lunke Gene: wdr91 has been classified as Red List (Low Evidence).
Mendeliome v0.172 WDR91 Sebastian Lunke Classified gene: WDR91 as Red List (low evidence)
Mendeliome v0.172 WDR91 Sebastian Lunke Gene: wdr91 has been classified as Red List (Low Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.2 WDR91 Sebastian Lunke Classified gene: WDR91 as Red List (low evidence)
Cerebellar and Pontocerebellar Hypoplasia v0.2 WDR91 Sebastian Lunke Gene: wdr91 has been classified as Red List (Low Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.1 WDR91 Sebastian Lunke Marked gene: WDR91 as ready
Cerebellar and Pontocerebellar Hypoplasia v0.1 WDR91 Sebastian Lunke Gene: wdr91 has been classified as Green List (High Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.1 WDR91 Sebastian Lunke reviewed gene: WDR91: Rating: RED; Mode of pathogenicity: None; Publications: 28969387; Phenotypes: ; Mode of inheritance: Unknown
Intellectual disability syndromic and non-syndromic v0.780 CDT1 Zornitza Stark Marked gene: CDT1 as ready
Intellectual disability syndromic and non-syndromic v0.780 CDT1 Zornitza Stark Gene: cdt1 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.780 CDT1 Zornitza Stark Phenotypes for gene: CDT1 were changed from to Meier-Gorlin syndrome 4, MIM#613804
Intellectual disability syndromic and non-syndromic v0.779 CDT1 Zornitza Stark Mode of inheritance for gene: CDT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.778 CDT1 Zornitza Stark Classified gene: CDT1 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.778 CDT1 Zornitza Stark Gene: cdt1 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.777 CDK6 Zornitza Stark Marked gene: CDK6 as ready
Intellectual disability syndromic and non-syndromic v0.777 CDK6 Zornitza Stark Gene: cdk6 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.777 CDK6 Zornitza Stark Phenotypes for gene: CDK6 were changed from to Microcephaly 12, primary, autosomal recessive, MIM#616080
Intellectual disability syndromic and non-syndromic v0.776 CDK6 Zornitza Stark Publications for gene: CDK6 were set to
Intellectual disability syndromic and non-syndromic v0.775 CDK6 Zornitza Stark Mode of inheritance for gene: CDK6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.774 CDK6 Zornitza Stark Classified gene: CDK6 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.774 CDK6 Zornitza Stark Gene: cdk6 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.170 CDK16 Zornitza Stark Marked gene: CDK16 as ready
Mendeliome v0.170 CDK16 Zornitza Stark Gene: cdk16 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.170 CDK16 Zornitza Stark Classified gene: CDK16 as Amber List (moderate evidence)
Mendeliome v0.170 CDK16 Zornitza Stark Gene: cdk16 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.169 CDK16 Zornitza Stark gene: CDK16 was added
gene: CDK16 was added to Mendeliome_VCGS. Sources: Expert list
Mode of inheritance for gene: CDK16 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: CDK16 were set to 25644381
Phenotypes for gene: CDK16 were set to Intellectual disability
Review for gene: CDK16 was set to AMBER
Added comment: Single family described in this manuscript describing multiple candidate genes for XLID.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.773 CDK16 Zornitza Stark Marked gene: CDK16 as ready
Intellectual disability syndromic and non-syndromic v0.773 CDK16 Zornitza Stark Gene: cdk16 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.773 CDK16 Zornitza Stark Phenotypes for gene: CDK16 were changed from to Intellectual disability
Intellectual disability syndromic and non-syndromic v0.772 CDK16 Zornitza Stark Publications for gene: CDK16 were set to
Intellectual disability syndromic and non-syndromic v0.771 CDK16 Zornitza Stark Mode of inheritance for gene: CDK16 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Intellectual disability syndromic and non-syndromic v0.770 CDK16 Zornitza Stark Classified gene: CDK16 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.770 CDK16 Zornitza Stark Gene: cdk16 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.769 CD96 Zornitza Stark Marked gene: CD96 as ready
Intellectual disability syndromic and non-syndromic v0.769 CD96 Zornitza Stark Gene: cd96 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.769 CD96 Zornitza Stark Phenotypes for gene: CD96 were changed from to C syndrome, MIM#211750
Intellectual disability syndromic and non-syndromic v0.768 CD96 Zornitza Stark Publications for gene: CD96 were set to
Intellectual disability syndromic and non-syndromic v0.767 CD96 Zornitza Stark Mode of inheritance for gene: CD96 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.766 CD96 Zornitza Stark Classified gene: CD96 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.766 CD96 Zornitza Stark Gene: cd96 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.765 CCDC8 Zornitza Stark Marked gene: CCDC8 as ready
Intellectual disability syndromic and non-syndromic v0.765 CCDC8 Zornitza Stark Gene: ccdc8 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.765 CCDC8 Zornitza Stark Phenotypes for gene: CCDC8 were changed from to 3-M syndrome 3, MIM#614205
Intellectual disability syndromic and non-syndromic v0.764 CCDC8 Zornitza Stark Publications for gene: CCDC8 were set to
Intellectual disability syndromic and non-syndromic v0.763 CCDC8 Zornitza Stark Mode of inheritance for gene: CCDC8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.762 CCDC8 Zornitza Stark Classified gene: CCDC8 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.762 CCDC8 Zornitza Stark Gene: ccdc8 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.761 CCDC78 Zornitza Stark Marked gene: CCDC78 as ready
Intellectual disability syndromic and non-syndromic v0.761 CCDC78 Zornitza Stark Gene: ccdc78 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.761 CCDC78 Zornitza Stark Phenotypes for gene: CCDC78 were changed from to Centronuclear myopathy 4, MIM#614807
Intellectual disability syndromic and non-syndromic v0.760 CCDC78 Zornitza Stark Publications for gene: CCDC78 were set to
Intellectual disability syndromic and non-syndromic v0.759 CCDC78 Zornitza Stark Mode of inheritance for gene: CCDC78 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.758 CCDC78 Zornitza Stark Classified gene: CCDC78 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.758 CCDC78 Zornitza Stark Gene: ccdc78 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.757 CACNA1G Zornitza Stark Marked gene: CACNA1G as ready
Intellectual disability syndromic and non-syndromic v0.757 CACNA1G Zornitza Stark Gene: cacna1g has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.757 CACNA1G Zornitza Stark Phenotypes for gene: CACNA1G were changed from to Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits, MIM#618087
Intellectual disability syndromic and non-syndromic v0.756 CACNA1G Zornitza Stark Publications for gene: CACNA1G were set to
Intellectual disability syndromic and non-syndromic v0.755 CACNA1G Zornitza Stark Mode of inheritance for gene: CACNA1G was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.754 CA8 Zornitza Stark Marked gene: CA8 as ready
Intellectual disability syndromic and non-syndromic v0.754 CA8 Zornitza Stark Gene: ca8 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.754 CA8 Zornitza Stark Phenotypes for gene: CA8 were changed from to Cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3, MIM#613227
Intellectual disability syndromic and non-syndromic v0.753 CA8 Zornitza Stark Publications for gene: CA8 were set to
Intellectual disability syndromic and non-syndromic v0.752 CA8 Zornitza Stark Mode of inheritance for gene: CA8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.751 CA2 Zornitza Stark Marked gene: CA2 as ready
Intellectual disability syndromic and non-syndromic v0.751 CA2 Zornitza Stark Gene: ca2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.751 CA2 Zornitza Stark Phenotypes for gene: CA2 were changed from to Osteopetrosis, autosomal recessive 3, with renal tubular acidosis, MIM#259730
Intellectual disability syndromic and non-syndromic v0.750 CA2 Zornitza Stark Mode of inheritance for gene: CA2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.749 C3orf58 Zornitza Stark Marked gene: C3orf58 as ready
Intellectual disability syndromic and non-syndromic v0.749 C3orf58 Zornitza Stark Gene: c3orf58 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.749 C3orf58 Zornitza Stark Classified gene: C3orf58 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.749 C3orf58 Zornitza Stark Gene: c3orf58 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.748 C19orf12 Zornitza Stark Marked gene: C19orf12 as ready
Intellectual disability syndromic and non-syndromic v0.748 C19orf12 Zornitza Stark Gene: c19orf12 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.748 C19orf12 Zornitza Stark Phenotypes for gene: C19orf12 were changed from to Neurodegeneration with brain iron accumulation 4, MIM#614298
Intellectual disability syndromic and non-syndromic v0.747 C19orf12 Zornitza Stark Mode of inheritance for gene: C19orf12 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.746 C19orf12 Zornitza Stark Classified gene: C19orf12 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.746 C19orf12 Zornitza Stark Gene: c19orf12 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.745 BSND Zornitza Stark Marked gene: BSND as ready
Intellectual disability syndromic and non-syndromic v0.745 BSND Zornitza Stark Gene: bsnd has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.745 BSND Zornitza Stark Phenotypes for gene: BSND were changed from to Bartter syndrome, type 4a, MIM#602522
Intellectual disability syndromic and non-syndromic v0.744 BSND Zornitza Stark Mode of inheritance for gene: BSND was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.743 BRAT1 Zornitza Stark Marked gene: BRAT1 as ready
Intellectual disability syndromic and non-syndromic v0.743 BRAT1 Zornitza Stark Gene: brat1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.743 BRAT1 Zornitza Stark Phenotypes for gene: BRAT1 were changed from to Neurodevelopmental disorder with cerebellar atrophy and with or without seizures, MIM#618056
Intellectual disability syndromic and non-syndromic v0.742 BRAT1 Zornitza Stark Publications for gene: BRAT1 were set to
Intellectual disability syndromic and non-syndromic v0.741 BRAT1 Zornitza Stark Mode of inheritance for gene: BRAT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.740 BMPER Zornitza Stark Marked gene: BMPER as ready
Intellectual disability syndromic and non-syndromic v0.740 BMPER Zornitza Stark Gene: bmper has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.740 BMPER Zornitza Stark Phenotypes for gene: BMPER were changed from to Diaphanospondylodysostosis, MIM#608022
Intellectual disability syndromic and non-syndromic v0.739 BMPER Zornitza Stark Mode of inheritance for gene: BMPER was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.738 BICD2 Zornitza Stark Marked gene: BICD2 as ready
Intellectual disability syndromic and non-syndromic v0.738 BICD2 Zornitza Stark Gene: bicd2 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.738 BICD2 Zornitza Stark Phenotypes for gene: BICD2 were changed from to Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant, MIM#615290
Intellectual disability syndromic and non-syndromic v0.737 BICD2 Zornitza Stark Mode of inheritance for gene: BICD2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.736 BICD2 Zornitza Stark Classified gene: BICD2 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.736 BICD2 Zornitza Stark Gene: bicd2 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.735 BDNF Zornitza Stark Marked gene: BDNF as ready
Intellectual disability syndromic and non-syndromic v0.735 BDNF Zornitza Stark Gene: bdnf has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.735 BDNF Zornitza Stark Phenotypes for gene: BDNF were changed from to Central hypoventilation syndrome, congenital, MIM#209880
Intellectual disability syndromic and non-syndromic v0.734 BDNF Zornitza Stark Mode of inheritance for gene: BDNF was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.733 BDNF Zornitza Stark Classified gene: BDNF as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.733 BDNF Zornitza Stark Gene: bdnf has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.732 BBIP1 Zornitza Stark Marked gene: BBIP1 as ready
Intellectual disability syndromic and non-syndromic v0.732 BBIP1 Zornitza Stark Gene: bbip1 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.732 BBIP1 Zornitza Stark Phenotypes for gene: BBIP1 were changed from to Bardet-Biedl syndrome 18, MIM#615995
Intellectual disability syndromic and non-syndromic v0.731 BBIP1 Zornitza Stark Publications for gene: BBIP1 were set to
Intellectual disability syndromic and non-syndromic v0.730 BBIP1 Zornitza Stark Mode of inheritance for gene: BBIP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.729 BBIP1 Zornitza Stark Classified gene: BBIP1 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.729 BBIP1 Zornitza Stark Gene: bbip1 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.728 B9D2 Zornitza Stark Marked gene: B9D2 as ready
Intellectual disability syndromic and non-syndromic v0.728 B9D2 Zornitza Stark Gene: b9d2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.728 B9D2 Zornitza Stark Phenotypes for gene: B9D2 were changed from to Joubert syndrome 34, MIM#614175; Meckel syndrome 10, MIM#614175
Intellectual disability syndromic and non-syndromic v0.727 B9D2 Zornitza Stark Publications for gene: B9D2 were set to
Intellectual disability syndromic and non-syndromic v0.726 B9D2 Zornitza Stark Mode of inheritance for gene: B9D2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.725 B9D1 Zornitza Stark Marked gene: B9D1 as ready
Intellectual disability syndromic and non-syndromic v0.725 B9D1 Zornitza Stark Gene: b9d1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.725 B9D1 Zornitza Stark Phenotypes for gene: B9D1 were changed from to Joubert syndrome 27, MIM#617120; Meckel syndrome 9, MIM#614209
Intellectual disability syndromic and non-syndromic v0.724 B9D1 Zornitza Stark Publications for gene: B9D1 were set to
Intellectual disability syndromic and non-syndromic v0.723 B9D1 Zornitza Stark Mode of inheritance for gene: B9D1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.722 B4GALT1 Zornitza Stark Marked gene: B4GALT1 as ready
Intellectual disability syndromic and non-syndromic v0.722 B4GALT1 Zornitza Stark Gene: b4galt1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.722 B4GALT1 Zornitza Stark Phenotypes for gene: B4GALT1 were changed from to Congenital disorder of glycosylation, type Iid, MIM#607091
Intellectual disability syndromic and non-syndromic v0.721 B4GALT1 Zornitza Stark Publications for gene: B4GALT1 were set to
Intellectual disability syndromic and non-syndromic v0.720 B4GALT1 Zornitza Stark Mode of inheritance for gene: B4GALT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.719 B3GAT3 Zornitza Stark Marked gene: B3GAT3 as ready
Intellectual disability syndromic and non-syndromic v0.719 B3GAT3 Zornitza Stark Gene: b3gat3 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.719 B3GAT3 Zornitza Stark Phenotypes for gene: B3GAT3 were changed from to Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects, MIM#245600
Intellectual disability syndromic and non-syndromic v0.718 B3GAT3 Zornitza Stark Mode of inheritance for gene: B3GAT3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.717 B3GAT3 Zornitza Stark Classified gene: B3GAT3 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.717 B3GAT3 Zornitza Stark Gene: b3gat3 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.716 B3GALT6 Zornitza Stark Marked gene: B3GALT6 as ready
Intellectual disability syndromic and non-syndromic v0.716 B3GALT6 Zornitza Stark Gene: b3galt6 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.716 B3GALT6 Zornitza Stark Phenotypes for gene: B3GALT6 were changed from to Ehlers-Danlos syndrome, spondylodysplastic type, 2, MIM#615349; Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures, MIM#271640
Intellectual disability syndromic and non-syndromic v0.715 B3GALT6 Zornitza Stark Mode of inheritance for gene: B3GALT6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.714 B3GALT6 Zornitza Stark Classified gene: B3GALT6 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.714 B3GALT6 Zornitza Stark Gene: b3galt6 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.713 AHCY Zornitza Stark Marked gene: AHCY as ready
Intellectual disability syndromic and non-syndromic v0.713 AHCY Zornitza Stark Gene: ahcy has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.713 AHCY Zornitza Stark Phenotypes for gene: AHCY were changed from to Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase, MIM#613752
Intellectual disability syndromic and non-syndromic v0.712 AHCY Zornitza Stark Mode of inheritance for gene: AHCY was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.711 ASNS Zornitza Stark Marked gene: ASNS as ready
Intellectual disability syndromic and non-syndromic v0.711 ASNS Zornitza Stark Gene: asns has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.711 ASNS Zornitza Stark Phenotypes for gene: ASNS were changed from to Asparagine synthetase deficiency, MIM#615574
Intellectual disability syndromic and non-syndromic v0.710 ASL Zornitza Stark Marked gene: ASL as ready
Intellectual disability syndromic and non-syndromic v0.710 ASL Zornitza Stark Gene: asl has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.710 ASL Zornitza Stark Phenotypes for gene: ASL were changed from to Argininosuccinic aciduria, MIM#207900
Intellectual disability syndromic and non-syndromic v0.709 ASL Zornitza Stark Mode of inheritance for gene: ASL was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.708 ALX3 Zornitza Stark Marked gene: ALX3 as ready
Intellectual disability syndromic and non-syndromic v0.708 ALX3 Zornitza Stark Gene: alx3 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.708 ALX3 Zornitza Stark Phenotypes for gene: ALX3 were changed from to Frontonasal dysplasia 1, MIM#136760
Intellectual disability syndromic and non-syndromic v0.707 ALX3 Zornitza Stark Publications for gene: ALX3 were set to
Intellectual disability syndromic and non-syndromic v0.706 ALX3 Zornitza Stark Mode of inheritance for gene: ALX3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.705 ALX1 Zornitza Stark Marked gene: ALX1 as ready
Intellectual disability syndromic and non-syndromic v0.705 ALX1 Zornitza Stark Gene: alx1 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.705 ALX1 Zornitza Stark Phenotypes for gene: ALX1 were changed from to Frontonasal dysplasia 3, MIM#613456
Intellectual disability syndromic and non-syndromic v0.704 ALX1 Zornitza Stark Publications for gene: ALX1 were set to
Intellectual disability syndromic and non-syndromic v0.703 ALX1 Zornitza Stark Mode of inheritance for gene: ALX1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.702 ALX1 Zornitza Stark Classified gene: ALX1 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.702 ALX1 Zornitza Stark Gene: alx1 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.701 ALG14 Zornitza Stark Marked gene: ALG14 as ready
Intellectual disability syndromic and non-syndromic v0.701 ALG14 Zornitza Stark Gene: alg14 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.701 ALG14 Zornitza Stark Phenotypes for gene: ALG14 were changed from to Myasthenic syndrome, congenital, 15, without tubular aggregates, MIM#616227; Intellectual disability
Intellectual disability syndromic and non-syndromic v0.700 ALG14 Zornitza Stark Publications for gene: ALG14 were set to
Intellectual disability syndromic and non-syndromic v0.699 ALG14 Zornitza Stark Mode of inheritance for gene: ALG14 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.698 ALDOB Zornitza Stark Marked gene: ALDOB as ready
Intellectual disability syndromic and non-syndromic v0.698 ALDOB Zornitza Stark Gene: aldob has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.698 ALDOB Zornitza Stark Phenotypes for gene: ALDOB were changed from to Fructose intolerance, hereditary, MIM#229600
Intellectual disability syndromic and non-syndromic v0.697 ALDOB Zornitza Stark Mode of inheritance for gene: ALDOB was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.696 AGA Zornitza Stark Marked gene: AGA as ready
Intellectual disability syndromic and non-syndromic v0.696 AGA Zornitza Stark Gene: aga has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.696 AGA Zornitza Stark Phenotypes for gene: AGA were changed from to Aspartylglucosaminuria, MIM#208400
Intellectual disability syndromic and non-syndromic v0.695 AGA Zornitza Stark Mode of inheritance for gene: AGA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.694 ADD3 Zornitza Stark Marked gene: ADD3 as ready
Intellectual disability syndromic and non-syndromic v0.694 ADD3 Zornitza Stark Gene: add3 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.694 ADD3 Zornitza Stark Phenotypes for gene: ADD3 were changed from to Cerebral palsy, spastic quadriplegic, 3, MIM#617008
Intellectual disability syndromic and non-syndromic v0.693 ADD3 Zornitza Stark Publications for gene: ADD3 were set to
Intellectual disability syndromic and non-syndromic v0.692 ADD3 Zornitza Stark Mode of inheritance for gene: ADD3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.691 ADAT3 Zornitza Stark Marked gene: ADAT3 as ready
Intellectual disability syndromic and non-syndromic v0.691 ADAT3 Zornitza Stark Gene: adat3 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.691 ADAT3 Zornitza Stark Phenotypes for gene: ADAT3 were changed from to Mental retardation, autosomal recessive 36, MIM#615286
Intellectual disability syndromic and non-syndromic v0.690 ADAT3 Zornitza Stark Publications for gene: ADAT3 were set to
Intellectual disability syndromic and non-syndromic v0.689 ADAT3 Zornitza Stark Mode of inheritance for gene: ADAT3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.688 ADAMTS10 Zornitza Stark Marked gene: ADAMTS10 as ready
Intellectual disability syndromic and non-syndromic v0.688 ADAMTS10 Zornitza Stark Gene: adamts10 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.688 ADAMTS10 Zornitza Stark Phenotypes for gene: ADAMTS10 were changed from to Weill-Marchesani syndrome 1, recessive, MIM#277600
Intellectual disability syndromic and non-syndromic v0.687 ADAMTS10 Zornitza Stark Mode of inheritance for gene: ADAMTS10 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.686 ACTL6A Zornitza Stark Marked gene: ACTL6A as ready
Intellectual disability syndromic and non-syndromic v0.686 ACTL6A Zornitza Stark Gene: actl6a has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.686 ACTL6A Zornitza Stark Phenotypes for gene: ACTL6A were changed from to Intellectual disability
Intellectual disability syndromic and non-syndromic v0.685 ACTL6A Zornitza Stark Publications for gene: ACTL6A were set to
Intellectual disability syndromic and non-syndromic v0.684 ACTL6A Zornitza Stark Mode of inheritance for gene: ACTL6A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.683 AVPR2 Zornitza Stark Marked gene: AVPR2 as ready
Intellectual disability syndromic and non-syndromic v0.683 AVPR2 Zornitza Stark Gene: avpr2 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.683 AVPR2 Zornitza Stark Phenotypes for gene: AVPR2 were changed from to Diabetes insipidus, nephrogenic, MIM#304800
Intellectual disability syndromic and non-syndromic v0.682 AVPR2 Zornitza Stark Mode of inheritance for gene: AVPR2 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Intellectual disability syndromic and non-syndromic v0.681 AVPR2 Zornitza Stark Classified gene: AVPR2 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.681 AVPR2 Zornitza Stark Gene: avpr2 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.680 AVPR1A Zornitza Stark Marked gene: AVPR1A as ready
Intellectual disability syndromic and non-syndromic v0.680 AVPR1A Zornitza Stark Gene: avpr1a has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.680 AVPR1A Zornitza Stark Classified gene: AVPR1A as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.680 AVPR1A Zornitza Stark Gene: avpr1a has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.679 AVP Zornitza Stark Marked gene: AVP as ready
Intellectual disability syndromic and non-syndromic v0.679 AVP Zornitza Stark Gene: avp has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.679 AVP Zornitza Stark Phenotypes for gene: AVP were changed from to Diabetes insipidus, neurohypophyseal, MIM#125700
Intellectual disability syndromic and non-syndromic v0.678 AVP Zornitza Stark Mode of inheritance for gene: AVP was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.677 AVP Zornitza Stark Classified gene: AVP as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.677 AVP Zornitza Stark Gene: avp has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.676 ATXN10 Zornitza Stark Marked gene: ATXN10 as ready
Intellectual disability syndromic and non-syndromic v0.676 ATXN10 Zornitza Stark Gene: atxn10 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.676 ATXN10 Zornitza Stark Phenotypes for gene: ATXN10 were changed from to Spinocerebellar ataxia 10, MIM#603516
Intellectual disability syndromic and non-syndromic v0.675 ATXN10 Zornitza Stark Mode of inheritance for gene: ATXN10 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.674 ATXN10 Zornitza Stark Classified gene: ATXN10 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.674 ATXN10 Zornitza Stark Gene: atxn10 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.673 ATP8A2 Zornitza Stark Marked gene: ATP8A2 as ready
Intellectual disability syndromic and non-syndromic v0.673 ATP8A2 Zornitza Stark Gene: atp8a2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.673 ATP8A2 Zornitza Stark Phenotypes for gene: ATP8A2 were changed from to Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4, MIM#615268
Intellectual disability syndromic and non-syndromic v0.672 ATP8A2 Zornitza Stark Publications for gene: ATP8A2 were set to
Intellectual disability syndromic and non-syndromic v0.671 ATP8A2 Zornitza Stark Mode of inheritance for gene: ATP8A2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.670 ATP2B3 Zornitza Stark Marked gene: ATP2B3 as ready
Intellectual disability syndromic and non-syndromic v0.670 ATP2B3 Zornitza Stark Gene: atp2b3 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.670 ATP2B3 Zornitza Stark Phenotypes for gene: ATP2B3 were changed from to Spinocerebellar ataxia, X-linked 1, MIM#302500
Intellectual disability syndromic and non-syndromic v0.669 ATP2B3 Zornitza Stark Publications for gene: ATP2B3 were set to
Intellectual disability syndromic and non-syndromic v0.668 ATP2B3 Zornitza Stark Classified gene: ATP2B3 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.668 ATP2B3 Zornitza Stark Gene: atp2b3 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.667 ATP2A2 Zornitza Stark Marked gene: ATP2A2 as ready
Intellectual disability syndromic and non-syndromic v0.667 ATP2A2 Zornitza Stark Gene: atp2a2 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.667 ATP2A2 Zornitza Stark Phenotypes for gene: ATP2A2 were changed from to Darier disease, MIM#124200
Intellectual disability syndromic and non-syndromic v0.666 ATP2A2 Zornitza Stark Mode of inheritance for gene: ATP2A2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.665 ATP2A2 Zornitza Stark Classified gene: ATP2A2 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.665 ATP2A2 Zornitza Stark Gene: atp2a2 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.664 ATP1A3 Zornitza Stark Marked gene: ATP1A3 as ready
Intellectual disability syndromic and non-syndromic v0.664 ATP1A3 Zornitza Stark Gene: atp1a3 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.664 ATP1A3 Zornitza Stark Phenotypes for gene: ATP1A3 were changed from to Alternating hemiplegia of childhood 2, MIM#614820
Intellectual disability syndromic and non-syndromic v0.663 ATP1A3 Zornitza Stark Mode of inheritance for gene: ATP1A3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.662 ATP1A3 Zornitza Stark Classified gene: ATP1A3 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.662 ATP1A3 Zornitza Stark Gene: atp1a3 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.661 ATP10A Zornitza Stark Marked gene: ATP10A as ready
Intellectual disability syndromic and non-syndromic v0.661 ATP10A Zornitza Stark Gene: atp10a has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.661 ATP10A Zornitza Stark Publications for gene: ATP10A were set to
Intellectual disability syndromic and non-syndromic v0.660 ATP10A Zornitza Stark Mode of inheritance for gene: ATP10A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.659 ATP10A Zornitza Stark Classified gene: ATP10A as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.659 ATP10A Zornitza Stark Gene: atp10a has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.658 ARNT2 Zornitza Stark Marked gene: ARNT2 as ready
Intellectual disability syndromic and non-syndromic v0.658 ARNT2 Zornitza Stark Gene: arnt2 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.658 ARNT2 Zornitza Stark Phenotypes for gene: ARNT2 were changed from to Webb-Dattani syndrome 615926
Intellectual disability syndromic and non-syndromic v0.657 ARNT2 Zornitza Stark Publications for gene: ARNT2 were set to
Intellectual disability syndromic and non-syndromic v0.656 ARNT2 Zornitza Stark Mode of inheritance for gene: ARNT2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.655 ARNT2 Zornitza Stark Classified gene: ARNT2 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.655 ARNT2 Zornitza Stark Gene: arnt2 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.654 ARHGAP31 Zornitza Stark Marked gene: ARHGAP31 as ready
Intellectual disability syndromic and non-syndromic v0.654 ARHGAP31 Zornitza Stark Gene: arhgap31 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.654 ARHGAP31 Zornitza Stark Phenotypes for gene: ARHGAP31 were changed from to Adams-Oliver syndrome 1, MIM#100300
Intellectual disability syndromic and non-syndromic v0.653 ARHGAP31 Zornitza Stark Mode of inheritance for gene: ARHGAP31 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.652 ARHGAP31 Zornitza Stark Classified gene: ARHGAP31 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.652 ARHGAP31 Zornitza Stark Gene: arhgap31 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.651 APTX Zornitza Stark Marked gene: APTX as ready
Intellectual disability syndromic and non-syndromic v0.651 APTX Zornitza Stark Gene: aptx has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.651 APTX Zornitza Stark Phenotypes for gene: APTX were changed from to Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia, MIM#208920
Intellectual disability syndromic and non-syndromic v0.650 APTX Zornitza Stark Mode of inheritance for gene: APTX was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.649 APTX Zornitza Stark Classified gene: APTX as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.649 APTX Zornitza Stark Gene: aptx has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.648 ANKH Zornitza Stark Marked gene: ANKH as ready
Intellectual disability syndromic and non-syndromic v0.648 ANKH Zornitza Stark Gene: ankh has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.648 ANKH Zornitza Stark Phenotypes for gene: ANKH were changed from to Craniometaphyseal dysplasia, MIM#123000
Intellectual disability syndromic and non-syndromic v0.647 ANKH Zornitza Stark Mode of inheritance for gene: ANKH was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.646 ANKH Zornitza Stark Classified gene: ANKH as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.646 ANKH Zornitza Stark Gene: ankh has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.645 ALS2 Zornitza Stark Marked gene: ALS2 as ready
Intellectual disability syndromic and non-syndromic v0.645 ALS2 Zornitza Stark Gene: als2 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.645 ALS2 Zornitza Stark Phenotypes for gene: ALS2 were changed from to Spastic paralysis, infantile onset ascending, MIM#607225
Intellectual disability syndromic and non-syndromic v0.644 ALS2 Zornitza Stark Mode of inheritance for gene: ALS2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.643 ALS2 Zornitza Stark Classified gene: ALS2 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.643 ALS2 Zornitza Stark Gene: als2 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.642 ALDOA Zornitza Stark Marked gene: ALDOA as ready
Intellectual disability syndromic and non-syndromic v0.642 ALDOA Zornitza Stark Gene: aldoa has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.642 ALDOA Zornitza Stark Phenotypes for gene: ALDOA were changed from to Glycogen storage disease XII, MIM#611881
Intellectual disability syndromic and non-syndromic v0.641 ALDOA Zornitza Stark Mode of inheritance for gene: ALDOA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.640 ALDOA Zornitza Stark Classified gene: ALDOA as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.640 ALDOA Zornitza Stark Gene: aldoa has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.639 AKR1C2 Zornitza Stark Marked gene: AKR1C2 as ready
Intellectual disability syndromic and non-syndromic v0.639 AKR1C2 Zornitza Stark Gene: akr1c2 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.639 AKR1C2 Zornitza Stark Phenotypes for gene: AKR1C2 were changed from to 46XY sex reversal 8, MIM#614279
Intellectual disability syndromic and non-syndromic v0.638 AKR1C2 Zornitza Stark Mode of inheritance for gene: AKR1C2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.637 AKR1C2 Zornitza Stark Classified gene: AKR1C2 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.637 AKR1C2 Zornitza Stark Gene: akr1c2 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.636 AKAP6 Zornitza Stark Marked gene: AKAP6 as ready
Intellectual disability syndromic and non-syndromic v0.636 AKAP6 Zornitza Stark Gene: akap6 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.636 AKAP6 Zornitza Stark Phenotypes for gene: AKAP6 were changed from to Intellectual disability
Intellectual disability syndromic and non-syndromic v0.635 AKAP6 Zornitza Stark Publications for gene: AKAP6 were set to
Intellectual disability syndromic and non-syndromic v0.634 AKAP6 Zornitza Stark Mode of inheritance for gene: AKAP6 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.633 AKAP6 Zornitza Stark Classified gene: AKAP6 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.633 AKAP6 Zornitza Stark Gene: akap6 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.632 AGTR2 Zornitza Stark Marked gene: AGTR2 as ready
Intellectual disability syndromic and non-syndromic v0.632 AGTR2 Zornitza Stark Gene: agtr2 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.632 AGTR2 Zornitza Stark Classified gene: AGTR2 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.632 AGTR2 Zornitza Stark Gene: agtr2 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.631 AGT Zornitza Stark Marked gene: AGT as ready
Intellectual disability syndromic and non-syndromic v0.631 AGT Zornitza Stark Gene: agt has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.631 AGT Zornitza Stark Phenotypes for gene: AGT were changed from to Renal tubular dysgenesis, MIM#267430
Intellectual disability syndromic and non-syndromic v0.630 AGT Zornitza Stark Mode of inheritance for gene: AGT was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.629 AGT Zornitza Stark Classified gene: AGT as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.629 AGT Zornitza Stark Gene: agt has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.628 AGPS Zornitza Stark Marked gene: AGPS as ready
Intellectual disability syndromic and non-syndromic v0.628 AGPS Zornitza Stark Gene: agps has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.628 AGPS Zornitza Stark Phenotypes for gene: AGPS were changed from to Rhizomelic chondrodysplasia punctata, type 3, MIM#600121
Intellectual disability syndromic and non-syndromic v0.627 AGPS Zornitza Stark Mode of inheritance for gene: AGPS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.626 AGPS Zornitza Stark Classified gene: AGPS as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.626 AGPS Zornitza Stark Gene: agps has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.625 AGK Zornitza Stark Marked gene: AGK as ready
Intellectual disability syndromic and non-syndromic v0.625 AGK Zornitza Stark Gene: agk has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.625 AGK Zornitza Stark Phenotypes for gene: AGK were changed from to Sengers syndrome, MIM#212350
Intellectual disability syndromic and non-syndromic v0.624 AGK Zornitza Stark Mode of inheritance for gene: AGK was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.623 AGK Zornitza Stark Classified gene: AGK as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.623 AGK Zornitza Stark Gene: agk has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.622 AGGF1 Zornitza Stark Marked gene: AGGF1 as ready
Intellectual disability syndromic and non-syndromic v0.622 AGGF1 Zornitza Stark Gene: aggf1 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.622 AGGF1 Zornitza Stark Classified gene: AGGF1 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.622 AGGF1 Zornitza Stark Gene: aggf1 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.621 AFG3L2 Zornitza Stark Marked gene: AFG3L2 as ready
Intellectual disability syndromic and non-syndromic v0.621 AFG3L2 Zornitza Stark Gene: afg3l2 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.621 AFG3L2 Zornitza Stark Phenotypes for gene: AFG3L2 were changed from to Spastic ataxia 5, autosomal recessive, MIM#614487
Intellectual disability syndromic and non-syndromic v0.620 AFG3L2 Zornitza Stark Mode of inheritance for gene: AFG3L2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.619 AFG3L2 Zornitza Stark Classified gene: AFG3L2 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.619 AFG3L2 Zornitza Stark Gene: afg3l2 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.618 CHD1 Zornitza Stark Marked gene: CHD1 as ready
Intellectual disability syndromic and non-syndromic v0.618 CHD1 Zornitza Stark Gene: chd1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.618 CHD1 Zornitza Stark Classified gene: CHD1 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.618 CHD1 Zornitza Stark Gene: chd1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.617 ADCY5 Zornitza Stark Marked gene: ADCY5 as ready
Intellectual disability syndromic and non-syndromic v0.617 ADCY5 Zornitza Stark Gene: adcy5 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.617 ADCY5 Zornitza Stark Phenotypes for gene: ADCY5 were changed from to Dyskinesia, familial, with facial myokymia, MIM#606703
Intellectual disability syndromic and non-syndromic v0.616 ADCY5 Zornitza Stark Mode of inheritance for gene: ADCY5 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.615 ADCY5 Zornitza Stark Classified gene: ADCY5 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.615 ADCY5 Zornitza Stark Gene: adcy5 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.614 ADAMTSL2 Zornitza Stark Marked gene: ADAMTSL2 as ready
Intellectual disability syndromic and non-syndromic v0.614 ADAMTSL2 Zornitza Stark Gene: adamtsl2 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.614 ADAMTSL2 Zornitza Stark Phenotypes for gene: ADAMTSL2 were changed from to Geleophysic dysplasia 1, MIM#231050
Intellectual disability syndromic and non-syndromic v0.613 ADAMTSL2 Zornitza Stark Mode of inheritance for gene: ADAMTSL2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.612 ADAMTSL2 Zornitza Stark Classified gene: ADAMTSL2 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.612 ADAMTSL2 Zornitza Stark Gene: adamtsl2 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.611 ADA2 Zornitza Stark Marked gene: ADA2 as ready
Intellectual disability syndromic and non-syndromic v0.611 ADA2 Zornitza Stark Gene: ada2 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.611 ADA2 Zornitza Stark Phenotypes for gene: ADA2 were changed from to Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome, MIM#615688
Intellectual disability syndromic and non-syndromic v0.610 ADA2 Zornitza Stark Mode of inheritance for gene: ADA2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.609 ADA2 Zornitza Stark Classified gene: ADA2 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.609 ADA2 Zornitza Stark Gene: ada2 has been classified as Red List (Low Evidence).
Mendeliome v0.168 MIR17HG Zornitza Stark Marked gene: MIR17HG as ready
Mendeliome v0.168 MIR17HG Zornitza Stark Gene: mir17hg has been classified as Green List (High Evidence).
Mendeliome v0.168 MIR17HG Zornitza Stark Classified gene: MIR17HG as Green List (high evidence)
Mendeliome v0.168 MIR17HG Zornitza Stark Gene: mir17hg has been classified as Green List (High Evidence).
Mendeliome v0.167 MIR17HG Zornitza Stark gene: MIR17HG was added
gene: MIR17HG was added to Mendeliome_VCGS. Sources: Expert list
Mode of inheritance for gene: MIR17HG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MIR17HG were set to 25391829; 21892160
Phenotypes for gene: MIR17HG were set to Feingold syndrome 2; OMIM #614326
Review for gene: MIR17HG was set to GREEN
Added comment: 4 unrelated cases reported - 3 with gene deletions, 1 with SNV
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.608 MAP4K4 Zornitza Stark Marked gene: MAP4K4 as ready
Intellectual disability syndromic and non-syndromic v0.608 MAP4K4 Zornitza Stark Gene: map4k4 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.608 MAP4K4 Zornitza Stark gene: MAP4K4 was added
gene: MAP4K4 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert list
Mode of inheritance for gene: MAP4K4 was set to Unknown
Review for gene: MAP4K4 was set to RED
Added comment: Cannot find evidence for gene-disease association.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.607 LZTR1 Zornitza Stark Marked gene: LZTR1 as ready
Intellectual disability syndromic and non-syndromic v0.607 LZTR1 Zornitza Stark Gene: lztr1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.607 LZTR1 Zornitza Stark Classified gene: LZTR1 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.607 LZTR1 Zornitza Stark Gene: lztr1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.606 LZTR1 Zornitza Stark gene: LZTR1 was added
gene: LZTR1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert list
Mode of inheritance for gene: LZTR1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: LZTR1 were set to Noonan syndrome 10, MIM#616564; Noonan syndrome 2, MIM#605275
Review for gene: LZTR1 was set to GREEN
Added comment: Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.605 LAMB2 Zornitza Stark Marked gene: LAMB2 as ready
Intellectual disability syndromic and non-syndromic v0.605 LAMB2 Zornitza Stark Gene: lamb2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.605 LAMB2 Zornitza Stark Phenotypes for gene: LAMB2 were changed from to Pierson syndrome, MIM#609049
Intellectual disability syndromic and non-syndromic v0.604 LAMB2 Zornitza Stark Mode of inheritance for gene: LAMB2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.603 LAMB2 Zornitza Stark reviewed gene: LAMB2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Pierson syndrome, MIM#609049; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.603 LZTFL1 Zornitza Stark Marked gene: LZTFL1 as ready
Intellectual disability syndromic and non-syndromic v0.603 LZTFL1 Zornitza Stark Gene: lztfl1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.603 LZTFL1 Zornitza Stark Mode of inheritance for gene: LZTFL1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.602 LZTFL1 Zornitza Stark reviewed gene: LZTFL1: Rating: GREEN; Mode of pathogenicity: None; Publications: 22510444, 23692385, 27312011; Phenotypes: Bardet-Biedl syndrome 17, MIM#615994; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.602 LYST Zornitza Stark Marked gene: LYST as ready
Intellectual disability syndromic and non-syndromic v0.602 LYST Zornitza Stark Gene: lyst has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.602 LYST Zornitza Stark Phenotypes for gene: LYST were changed from to Chediak-Higashi syndrome, MIM#214500
Intellectual disability syndromic and non-syndromic v0.601 LYST Zornitza Stark Mode of inheritance for gene: LYST was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.600 LYST Zornitza Stark reviewed gene: LYST: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Chediak-Higashi syndrome, MIM#214500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.600 LYRM7 Zornitza Stark Marked gene: LYRM7 as ready
Intellectual disability syndromic and non-syndromic v0.600 LYRM7 Zornitza Stark Gene: lyrm7 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.600 LYRM7 Zornitza Stark Phenotypes for gene: LYRM7 were changed from to Mitochondrial complex III deficiency, nuclear type 8, MIM#615838
Intellectual disability syndromic and non-syndromic v0.599 LYRM7 Zornitza Stark Mode of inheritance for gene: LYRM7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.598 LYRM7 Zornitza Stark reviewed gene: LYRM7: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial complex III deficiency, nuclear type 8, MIM#615838; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.598 LMNB1 Zornitza Stark Marked gene: LMNB1 as ready
Intellectual disability syndromic and non-syndromic v0.598 LMNB1 Zornitza Stark Gene: lmnb1 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.598 LMNB1 Zornitza Stark Phenotypes for gene: LMNB1 were changed from to Leukodystrophy, adult-onset, autosomal dominant, MIM#169500
Intellectual disability syndromic and non-syndromic v0.597 LMNB1 Zornitza Stark Mode of inheritance for gene: LMNB1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.596 LMNB1 Zornitza Stark Classified gene: LMNB1 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.596 LMNB1 Zornitza Stark Gene: lmnb1 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.595 LMNB1 Zornitza Stark reviewed gene: LMNB1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Leukodystrophy, adult-onset, autosomal dominant, MIM#169500; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.595 LMNA Zornitza Stark Marked gene: LMNA as ready
Intellectual disability syndromic and non-syndromic v0.595 LMNA Zornitza Stark Gene: lmna has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.595 LMNA Zornitza Stark Classified gene: LMNA as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.595 LMNA Zornitza Stark Gene: lmna has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.594 LMNA Zornitza Stark reviewed gene: LMNA: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Intellectual disability syndromic and non-syndromic v0.594 LIPT1 Zornitza Stark Marked gene: LIPT1 as ready
Intellectual disability syndromic and non-syndromic v0.594 LIPT1 Zornitza Stark Gene: lipt1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.594 LIPT1 Zornitza Stark Phenotypes for gene: LIPT1 were changed from to Lipoyltransferase 1 deficiency, MIM#616299
Intellectual disability syndromic and non-syndromic v0.593 LIPT1 Zornitza Stark Publications for gene: LIPT1 were set to
Intellectual disability syndromic and non-syndromic v0.592 LIPT1 Zornitza Stark Mode of inheritance for gene: LIPT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.591 LIPT1 Zornitza Stark reviewed gene: LIPT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24341803, 24256811, 29681092; Phenotypes: Lipoyltransferase 1 deficiency, MIM#616299; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.591 LINGO1 Zornitza Stark Classified gene: LINGO1 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.591 LINGO1 Zornitza Stark Gene: lingo1 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.590 LINGO1 Zornitza Stark Marked gene: LINGO1 as ready
Intellectual disability syndromic and non-syndromic v0.590 LINGO1 Zornitza Stark Gene: lingo1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.590 LINGO1 Zornitza Stark Classified gene: LINGO1 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.590 LINGO1 Zornitza Stark Gene: lingo1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.589 LINGO1 Zornitza Stark gene: LINGO1 was added
gene: LINGO1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert list
Mode of inheritance for gene: LINGO1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LINGO1 were set to 28837161
Phenotypes for gene: LINGO1 were set to Mental retardation, autosomal recessive 64, MIM#618103
Review for gene: LINGO1 was set to GREEN
Added comment: Five individuals from two unrelated families, no functional evidence.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.588 LIAS Zornitza Stark Marked gene: LIAS as ready
Intellectual disability syndromic and non-syndromic v0.588 LIAS Zornitza Stark Gene: lias has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.588 LIAS Zornitza Stark Phenotypes for gene: LIAS were changed from to Hyperglycinemia, lactic acidosis, and seizures, MIM#614462
Intellectual disability syndromic and non-syndromic v0.587 LIAS Zornitza Stark Publications for gene: LIAS were set to
Intellectual disability syndromic and non-syndromic v0.586 LIAS Zornitza Stark Mode of inheritance for gene: LIAS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.585 LIAS Zornitza Stark reviewed gene: LIAS: Rating: GREEN; Mode of pathogenicity: None; Publications: 24334290, 22152680; Phenotypes: Hyperglycinemia, lactic acidosis, and seizures, MIM#614462; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.585 LGI4 Zornitza Stark Marked gene: LGI4 as ready
Intellectual disability syndromic and non-syndromic v0.585 LGI4 Zornitza Stark Gene: lgi4 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.585 LGI4 Zornitza Stark Phenotypes for gene: LGI4 were changed from to Arthrogryposis multiplex congenita, neurogenic, with myelin defect, MIM#617468
Intellectual disability syndromic and non-syndromic v0.584 LGI4 Zornitza Stark Mode of inheritance for gene: LGI4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.583 LGI4 Zornitza Stark Classified gene: LGI4 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.583 LGI4 Zornitza Stark Gene: lgi4 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.582 LGI4 Zornitza Stark reviewed gene: LGI4: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Arthrogryposis multiplex congenita, neurogenic, with myelin defect, MIM#617468; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.582 LBR Zornitza Stark Marked gene: LBR as ready
Intellectual disability syndromic and non-syndromic v0.582 LBR Zornitza Stark Gene: lbr has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.582 LBR Zornitza Stark Phenotypes for gene: LBR were changed from to Greenberg skeletal dysplasia, MIM#215140; 3 Pelger-Huet anomaly, MIM#169400
Intellectual disability syndromic and non-syndromic v0.581 LBR Zornitza Stark Mode of inheritance for gene: LBR was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.580 LBR Zornitza Stark Classified gene: LBR as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.580 LBR Zornitza Stark Gene: lbr has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.579 LBR Zornitza Stark reviewed gene: LBR: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Greenberg skeletal dysplasia, MIM#215140, 3 Pelger-Huet anomaly, MIM#169400; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.579 KYNU Zornitza Stark edited their review of gene: KYNU: Changed phenotypes: Hydroxykynureninuria, MIM#236800, Vertebral, cardiac, renal, and limb defects syndrome 2, MIM#617661
Intellectual disability syndromic and non-syndromic v0.579 KYNU Zornitza Stark Marked gene: KYNU as ready
Intellectual disability syndromic and non-syndromic v0.579 KYNU Zornitza Stark Gene: kynu has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.579 KYNU Zornitza Stark Phenotypes for gene: KYNU were changed from to Hydroxykynureninuria, MIM#236800
Intellectual disability syndromic and non-syndromic v0.578 KYNU Zornitza Stark Publications for gene: KYNU were set to
Intellectual disability syndromic and non-syndromic v0.577 KYNU Zornitza Stark Classified gene: KYNU as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.577 KYNU Zornitza Stark Gene: kynu has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.576 KYNU Zornitza Stark reviewed gene: KYNU: Rating: RED; Mode of pathogenicity: None; Publications: 28792876, 17334708; Phenotypes: Hydroxykynureninuria, MIM#236800; Mode of inheritance: None
Intellectual disability syndromic and non-syndromic v0.576 KMT5B Zornitza Stark Marked gene: KMT5B as ready
Intellectual disability syndromic and non-syndromic v0.576 KMT5B Zornitza Stark Gene: kmt5b has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.576 KMT5B Zornitza Stark Classified gene: KMT5B as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.576 KMT5B Zornitza Stark Gene: kmt5b has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.575 KMT5B Zornitza Stark gene: KMT5B was added
gene: KMT5B was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert list
Mode of inheritance for gene: KMT5B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KMT5B were set to 25363768; 28191889; 29276005
Phenotypes for gene: KMT5B were set to Mental retardation, autosomal dominant 51, MIM#617788
Review for gene: KMT5B was set to GREEN
Added comment: Multiple affected individuals from unrelated families.
Sources: Expert list
Cancer Predisposition_Paediatric v0.3 CHEK2 Zornitza Stark Marked gene: CHEK2 as ready
Cancer Predisposition_Paediatric v0.3 CHEK2 Zornitza Stark Gene: chek2 has been classified as Green List (High Evidence).
Cancer Predisposition_Paediatric v0.3 CHEK2 Zornitza Stark Classified gene: CHEK2 as Green List (high evidence)
Cancer Predisposition_Paediatric v0.3 CHEK2 Zornitza Stark Gene: chek2 has been classified as Green List (High Evidence).
Cancer Predisposition_Paediatric v0.2 CHEK2 Zornitza Stark gene: CHEK2 was added
gene: CHEK2 was added to Cancer Predisposition_Paediatric_VCGS. Sources: Expert Review
Mode of inheritance for gene: CHEK2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CHEK2 were set to 10617473
Phenotypes for gene: CHEK2 were set to Li-Fraumeni syndrome, MIM#609265
Review for gene: CHEK2 was set to GREEN
Added comment: Affected individuals from three unrelated families reported originally.
Sources: Expert Review
Incidentalome v0.2 CHEK2 Zornitza Stark Marked gene: CHEK2 as ready
Incidentalome v0.2 CHEK2 Zornitza Stark Added comment: Comment when marking as ready: Decision to add to Incidentalome by Genomics MDT 6/12/19.
Incidentalome v0.2 CHEK2 Zornitza Stark Gene: chek2 has been classified as Green List (High Evidence).
Incidentalome v0.2 CHEK2 Zornitza Stark Classified gene: CHEK2 as Green List (high evidence)
Incidentalome v0.2 CHEK2 Zornitza Stark Gene: chek2 has been classified as Green List (High Evidence).
Incidentalome v0.1 CHEK2 Zornitza Stark gene: CHEK2 was added
gene: CHEK2 was added to Incidentalome_VCGS. Sources: Other
Mode of inheritance for gene: CHEK2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: CHEK2 were set to Breast cancer
Review for gene: CHEK2 was set to GREEN
Added comment: Sources: Other
Intellectual disability syndromic and non-syndromic v0.574 KMT2B Zornitza Stark Marked gene: KMT2B as ready
Intellectual disability syndromic and non-syndromic v0.574 KMT2B Zornitza Stark Gene: kmt2b has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.574 KMT2B Zornitza Stark Phenotypes for gene: KMT2B were changed from to Dystonia 28, childhood-onset, MIM#617284
Intellectual disability syndromic and non-syndromic v0.573 KMT2B Zornitza Stark Mode of inheritance for gene: KMT2B was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.572 KMT2B Zornitza Stark reviewed gene: KMT2B: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Dystonia 28, childhood-onset, MIM#617284; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.572 KLLN Zornitza Stark Publications for gene: KLLN were set to
Intellectual disability syndromic and non-syndromic v0.571 KLLN Zornitza Stark Classified gene: KLLN as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.571 KLLN Zornitza Stark Gene: klln has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.570 KLLN Zornitza Stark reviewed gene: KLLN: Rating: RED; Mode of pathogenicity: None; Publications: 21177507; Phenotypes: ; Mode of inheritance: None
Intellectual disability syndromic and non-syndromic v0.570 KLF8 Zornitza Stark Marked gene: KLF8 as ready
Intellectual disability syndromic and non-syndromic v0.570 KLF8 Zornitza Stark Gene: klf8 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.570 KLF8 Zornitza Stark Publications for gene: KLF8 were set to
Intellectual disability syndromic and non-syndromic v0.569 KLF8 Zornitza Stark Classified gene: KLF8 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.569 KLF8 Zornitza Stark Gene: klf8 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.568 KLF8 Zornitza Stark reviewed gene: KLF8: Rating: RED; Mode of pathogenicity: None; Publications: 11836360; Phenotypes: ; Mode of inheritance: None
Mendeliome v0.166 KLF7 Zornitza Stark Marked gene: KLF7 as ready
Mendeliome v0.166 KLF7 Zornitza Stark Gene: klf7 has been classified as Green List (High Evidence).
Mendeliome v0.166 KLF7 Zornitza Stark Classified gene: KLF7 as Green List (high evidence)
Mendeliome v0.166 KLF7 Zornitza Stark Gene: klf7 has been classified as Green List (High Evidence).
Mendeliome v0.165 KLF7 Zornitza Stark gene: KLF7 was added
gene: KLF7 was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: KLF7 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KLF7 were set to 29251763
Phenotypes for gene: KLF7 were set to Intellectual disability
Review for gene: KLF7 was set to GREEN
Added comment: Four unrelated individuals with de novo missense variants; animal model data supportive.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.568 KLF7 Zornitza Stark Phenotypes for gene: KLF7 were changed from to Intellectual disability
Intellectual disability syndromic and non-syndromic v0.567 KLF7 Zornitza Stark Publications for gene: KLF7 were set to
Intellectual disability syndromic and non-syndromic v0.566 KLF7 Zornitza Stark Mode of inheritance for gene: KLF7 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.565 KLF7 Zornitza Stark reviewed gene: KLF7: Rating: GREEN; Mode of pathogenicity: None; Publications: 29251763; Phenotypes: Intellectual disability; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.565 KIRREL3 Zornitza Stark Marked gene: KIRREL3 as ready
Intellectual disability syndromic and non-syndromic v0.565 KIRREL3 Zornitza Stark Gene: kirrel3 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.565 KIRREL3 Zornitza Stark Phenotypes for gene: KIRREL3 were changed from to Intellectual disability
Intellectual disability syndromic and non-syndromic v0.564 KIRREL3 Zornitza Stark Publications for gene: KIRREL3 were set to
Intellectual disability syndromic and non-syndromic v0.563 KIRREL3 Zornitza Stark Mode of inheritance for gene: KIRREL3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.562 KIRREL3 Zornitza Stark Classified gene: KIRREL3 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.562 KIRREL3 Zornitza Stark Gene: kirrel3 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.561 KIRREL3 Zornitza Stark reviewed gene: KIRREL3: Rating: RED; Mode of pathogenicity: None; Publications: 19012874; Phenotypes: Intellectual disability; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.561 KIF21A Zornitza Stark Marked gene: KIF21A as ready
Intellectual disability syndromic and non-syndromic v0.561 KIF21A Zornitza Stark Gene: kif21a has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.561 KIF21A Zornitza Stark Phenotypes for gene: KIF21A were changed from to Fibrosis of extraocular muscles, congenital, 1, MIM#135700
Intellectual disability syndromic and non-syndromic v0.560 KIF21A Zornitza Stark Mode of inheritance for gene: KIF21A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.559 KIF21A Zornitza Stark Classified gene: KIF21A as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.559 KIF21A Zornitza Stark Gene: kif21a has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.558 KIF21A Zornitza Stark reviewed gene: KIF21A: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Fibrosis of extraocular muscles, congenital, 1, MIM#135700; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.558 KIF16B Zornitza Stark Marked gene: KIF16B as ready
Intellectual disability syndromic and non-syndromic v0.558 KIF16B Zornitza Stark Gene: kif16b has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.558 KIF16B Zornitza Stark Phenotypes for gene: KIF16B were changed from to Intellectual disability
Intellectual disability syndromic and non-syndromic v0.557 KIF16B Zornitza Stark Publications for gene: KIF16B were set to
Intellectual disability syndromic and non-syndromic v0.556 KIF16B Zornitza Stark Mode of inheritance for gene: KIF16B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.555 KIF16B Zornitza Stark Classified gene: KIF16B as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.555 KIF16B Zornitza Stark Gene: kif16b has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.554 KIF16B Zornitza Stark reviewed gene: KIF16B: Rating: RED; Mode of pathogenicity: None; Publications: 29736960; Phenotypes: Intellectual disability; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.554 KDM6B Zornitza Stark Marked gene: KDM6B as ready
Intellectual disability syndromic and non-syndromic v0.554 KDM6B Zornitza Stark Gene: kdm6b has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.554 KDM6B Zornitza Stark Classified gene: KDM6B as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.554 KDM6B Zornitza Stark Gene: kdm6b has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.553 KDM6B Zornitza Stark gene: KDM6B was added
gene: KDM6B was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert list
Mode of inheritance for gene: KDM6B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KDM6B were set to 31124279
Phenotypes for gene: KDM6B were set to Intellectual disability
Review for gene: KDM6B was set to GREEN
Added comment: 12 unrelated individuals with de novo variants in this gene, no functional evidence reported but KDM6B involved in histone methylation.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.552 KCTD13 Zornitza Stark Marked gene: KCTD13 as ready
Intellectual disability syndromic and non-syndromic v0.552 KCTD13 Zornitza Stark Gene: kctd13 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.552 KCTD13 Zornitza Stark Phenotypes for gene: KCTD13 were changed from to Intellectual disability
Intellectual disability syndromic and non-syndromic v0.551 KCTD13 Zornitza Stark Publications for gene: KCTD13 were set to
Intellectual disability syndromic and non-syndromic v0.550 KCTD13 Zornitza Stark Mode of inheritance for gene: KCTD13 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.549 KCTD13 Zornitza Stark Classified gene: KCTD13 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.549 KCTD13 Zornitza Stark Gene: kctd13 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.548 KCTD13 Zornitza Stark reviewed gene: KCTD13: Rating: RED; Mode of pathogenicity: None; Publications: 22596160, 29088697; Phenotypes: Intellectual disability; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.548 KCNMA1 Zornitza Stark Marked gene: KCNMA1 as ready
Intellectual disability syndromic and non-syndromic v0.548 KCNMA1 Zornitza Stark Gene: kcnma1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.548 KCNMA1 Zornitza Stark Phenotypes for gene: KCNMA1 were changed from to Cerebellar atrophy, developmental delay, and seizures, MIM# 617643; Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy, MIM#609446
Intellectual disability syndromic and non-syndromic v0.547 KCNMA1 Zornitza Stark Publications for gene: KCNMA1 were set to
Intellectual disability syndromic and non-syndromic v0.546 KCNMA1 Zornitza Stark Mode of inheritance for gene: KCNMA1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.545 KCNMA1 Zornitza Stark reviewed gene: KCNMA1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 27567911, 29545233, 26195193, 31427379; Phenotypes: Cerebellar atrophy, developmental delay, and seizures, MIM# 617643, Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy, MIM#609446; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.545 KCNJ1 Zornitza Stark Marked gene: KCNJ1 as ready
Intellectual disability syndromic and non-syndromic v0.545 KCNJ1 Zornitza Stark Gene: kcnj1 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.545 KCNJ1 Zornitza Stark Phenotypes for gene: KCNJ1 were changed from to Bartter syndrome, type 2, MIM#241200
Intellectual disability syndromic and non-syndromic v0.544 KCNJ1 Zornitza Stark Mode of inheritance for gene: KCNJ1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.543 KCNJ1 Zornitza Stark Classified gene: KCNJ1 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.543 KCNJ1 Zornitza Stark Gene: kcnj1 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.542 KCNJ1 Zornitza Stark reviewed gene: KCNJ1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Bartter syndrome, type 2, MIM#241200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.542 KCND3 Zornitza Stark Marked gene: KCND3 as ready
Intellectual disability syndromic and non-syndromic v0.542 KCND3 Zornitza Stark Gene: kcnd3 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.542 KCND3 Zornitza Stark Phenotypes for gene: KCND3 were changed from to Spinocerebellar ataxia 19, MIM#607346
Intellectual disability syndromic and non-syndromic v0.541 KCND3 Zornitza Stark Mode of inheritance for gene: KCND3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.540 KCND3 Zornitza Stark Classified gene: KCND3 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.540 KCND3 Zornitza Stark Gene: kcnd3 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.539 KCND3 Zornitza Stark reviewed gene: KCND3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Spinocerebellar ataxia 19, MIM#607346; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.539 KCNC3 Zornitza Stark Marked gene: KCNC3 as ready
Intellectual disability syndromic and non-syndromic v0.539 KCNC3 Zornitza Stark Gene: kcnc3 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.539 KCNC3 Zornitza Stark Phenotypes for gene: KCNC3 were changed from to Spinocerebellar ataxia 13, MIM#605259
Intellectual disability syndromic and non-syndromic v0.538 KCNC3 Zornitza Stark Mode of inheritance for gene: KCNC3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.537 KCNC3 Zornitza Stark Classified gene: KCNC3 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.537 KCNC3 Zornitza Stark Gene: kcnc3 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.536 KCNC3 Zornitza Stark reviewed gene: KCNC3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Spinocerebellar ataxia 13, MIM#605259; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.536 KARS Zornitza Stark Marked gene: KARS as ready
Intellectual disability syndromic and non-syndromic v0.536 KARS Zornitza Stark Gene: kars has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.536 KARS Zornitza Stark Classified gene: KARS as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.536 KARS Zornitza Stark Gene: kars has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.535 KARS Zornitza Stark gene: KARS was added
gene: KARS was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert list
Mode of inheritance for gene: KARS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KARS were set to 26741492; 31618474; 28887846; 25330800; 29615062; 30252186; 28496994
Phenotypes for gene: KARS were set to Combined mitochondrial oxidative phosphorylation deficiency; epilepsy; intellectual disability; microcephaly
Review for gene: KARS was set to GREEN
gene: KARS was marked as current diagnostic
Added comment: Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.534 TREM2 Chirag Patel Classified gene: TREM2 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.534 TREM2 Chirag Patel Gene: trem2 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.533 TREM2 Chirag Patel Source Genetic Health Queensland was removed from TREM2.
Source Expert list was added to TREM2.
Phenotypes for gene: TREM2 were changed from to Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2; OMIM #618193
Intellectual disability syndromic and non-syndromic v0.532 TREM2 Chirag Patel reviewed gene: TREM2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2, OMIM #618193; Mode of inheritance: Unknown
Intellectual disability syndromic and non-syndromic v0.532 TRHR Chirag Patel Classified gene: TRHR as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.532 TRHR Chirag Patel Gene: trhr has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.531 TRHR Chirag Patel Source Genetic Health Queensland was removed from TRHR.
Source Expert list was added to TRHR.
Mode of inheritance for gene TRHR was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TRHR were changed from to Hypothyroidism, congenital, nongoitrous, 7; OMIM #618573
Intellectual disability syndromic and non-syndromic v0.530 TRHR Chirag Patel reviewed gene: TRHR: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Hypothyroidism, congenital, nongoitrous, 7, OMIM #618573; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.530 TRIM37 Chirag Patel Classified gene: TRIM37 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.530 TRIM37 Chirag Patel Gene: trim37 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.529 TRIM37 Chirag Patel Source Genetic Health Queensland was removed from TRIM37.
Source Expert list was added to TRIM37.
Mode of inheritance for gene TRIM37 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TRIM37 were changed from to Mulibrey nanism; OMIM #253250
Intellectual disability syndromic and non-syndromic v0.528 TRIM37 Chirag Patel reviewed gene: TRIM37: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Mulibrey nanism, OMIM #253250; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.527 TRRAP Chirag Patel Classified gene: TRRAP as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.527 TRRAP Chirag Patel Gene: trrap has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.526 TRRAP Chirag Patel commented on gene: TRRAP: 31 unrelated patients with global developmental delay and variably impaired intellectual development associated with de novo heterozygous mutations of TRRAP.
Intellectual disability syndromic and non-syndromic v0.526 TRRAP Chirag Patel gene: TRRAP was added
gene: TRRAP was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert list
Mode of inheritance for gene: TRRAP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TRRAP were set to PubMed: 30827496
Phenotypes for gene: TRRAP were set to Developmental delay with or without dysmorphic facies and autism; OMIM #618454
Review for gene: TRRAP was set to GREEN
Added comment: Sources: Expert list
Mendeliome v0.164 KANK1 Zornitza Stark Marked gene: KANK1 as ready
Mendeliome v0.164 KANK1 Zornitza Stark Gene: kank1 has been classified as Red List (Low Evidence).
Mendeliome v0.164 KANK1 Zornitza Stark Phenotypes for gene: KANK1 were changed from to Nephrotic syndrome; Cerebral palsy, spastic quadriplegic, 2, MIM#612900
Mendeliome v0.163 KANK1 Zornitza Stark Publications for gene: KANK1 were set to
Intellectual disability syndromic and non-syndromic v0.525 TRMT1 Chirag Patel Publications for gene TRMT1 were changed from PMID: 30289604; 26308914; 21937992 to PMID: 30289604; 26308914; 21937992
Mendeliome v0.162 KANK1 Zornitza Stark Mode of inheritance for gene: KANK1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.161 KANK1 Zornitza Stark Classified gene: KANK1 as Red List (low evidence)
Mendeliome v0.161 KANK1 Zornitza Stark Gene: kank1 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.524 TRMT1 Chirag Patel Deleted their comment
Intellectual disability syndromic and non-syndromic v0.524 TRMT1 Chirag Patel edited their review of gene: TRMT1: Added comment: 4 families reported:
-1 consanguineous Iranian family with 5 individuals with nonsyndromic moderate to severe impaired intellectual development.
-1 consanguineous Iranian family with 3 adult brothers with global developmental delay and moderately delayed intellectual development
-2 unrelated Pakistani families with 4 patients with impaired intellectual development.
All with homozygous mutations in the TRMT1 gene which segregated with the disorder in the families, but functional studies of the variants were not performed.; Changed publications: PMID: 30289604, 26308914, 21937992
Mendeliome v0.160 KANK1 Zornitza Stark reviewed gene: KANK1: Rating: RED; Mode of pathogenicity: None; Publications: 25961457, 29729439, 30684669, 16301218; Phenotypes: Nephrotic syndrome, Cerebral palsy, spastic quadriplegic, 2, MIM#612900; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.524 TRMT1 Chirag Patel Source Genetic Health Queensland was removed from TRMT1.
Source Expert list was added to TRMT1.
Mode of inheritance for gene TRMT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TRMT1 were changed from to Mental retardation, autosomal recessive 68; OMIM #618302
Publications for gene TRMT1 were changed from PMID: 30289604; 26308914 to PMID: 30289604; 26308914
Intellectual disability syndromic and non-syndromic v0.523 TRMT1 Chirag Patel reviewed gene: TRMT1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 30289604, 26308914; Phenotypes: Mental retardation, autosomal recessive 68, OMIM #618302; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cerebral Palsy v0.8 KANK1 Zornitza Stark Marked gene: KANK1 as ready
Cerebral Palsy v0.8 KANK1 Zornitza Stark Gene: kank1 has been classified as Red List (Low Evidence).
Cerebral Palsy v0.8 KANK1 Zornitza Stark Phenotypes for gene: KANK1 were changed from to Cerebral palsy, spastic quadriplegic, 2, MIM#612900
Cerebral Palsy v0.7 KANK1 Zornitza Stark Publications for gene: KANK1 were set to
Intellectual disability syndromic and non-syndromic v0.523 TRNT1 Chirag Patel Phenotypes for gene: TRNT1 were changed from Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay; OMIM #616084 to Retinitis pigmentosa and erythrocytic microcytosis, OMIM #616959; Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay, OMIM #616084
Intellectual disability syndromic and non-syndromic v0.522 TRNT1 Chirag Patel Source Genetic Health Queensland was removed from TRNT1.
Source Expert list was added to TRNT1.
Mode of inheritance for gene TRNT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TRNT1 were changed from to Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay; OMIM #616084
Publications for gene TRNT1 were changed from PubMed: 25193871; 23553769; 29170023; 27389523 to PubMed: 25193871; 23553769; 29170023; 27389523
Cerebral Palsy v0.6 KANK1 Zornitza Stark Mode of inheritance for gene: KANK1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cerebral Palsy v0.6 KANK1 Zornitza Stark Classified gene: KANK1 as Red List (low evidence)
Cerebral Palsy v0.6 KANK1 Zornitza Stark Gene: kank1 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.521 TRNT1 Chirag Patel reviewed gene: TRNT1: Rating: GREEN; Mode of pathogenicity: None; Publications: PubMed: 25193871, 23553769, 29170023, 27389523; Phenotypes: Retinitis pigmentosa and erythrocytic microcytosis, OMIM #616959, Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay, OMIM #616084; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cerebral Palsy v0.5 KANK1 Zornitza Stark reviewed gene: KANK1: Rating: RED; Mode of pathogenicity: None; Publications: 29729439, 30684669, 16301218; Phenotypes: Cerebral palsy, spastic quadriplegic, 2, MIM#612900; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.521 TTC21B Chirag Patel Classified gene: TTC21B as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.521 TTC21B Chirag Patel Gene: ttc21b has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.520 TTC21B Chirag Patel Source Genetic Health Queensland was removed from TTC21B.
Source Expert list was added to TTC21B.
Mode of inheritance for gene TTC21B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TTC21B were changed from to Nephronophthisis 12, OMIM #613820; Short-rib thoracic dysplasia 4 with or without polydactyly; OMIM #613819
Intellectual disability syndromic and non-syndromic v0.519 TTC21B Chirag Patel reviewed gene: TTC21B: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Nephronophthisis 12, OMIM #613820, Short-rib thoracic dysplasia 4 with or without polydactyly, OMIM #613819; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.519 TTR Chirag Patel Classified gene: TTR as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.519 TTR Chirag Patel Gene: ttr has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.518 TTR Chirag Patel Source Genetic Health Queensland was removed from TTR.
Source Expert list was added to TTR.
Mode of inheritance for gene TTR was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: TTR were changed from to Amyloidosis, hereditary, transthyretin-related, OMIM #105210; Carpal tunnel syndrome, familial; OMIM #115430
Intellectual disability syndromic and non-syndromic v0.517 TTR Chirag Patel reviewed gene: TTR: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Amyloidosis, hereditary, transthyretin-related, OMIM #105210, Carpal tunnel syndrome, familial, OMIM #115430; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.517 TUFM Chirag Patel Classified gene: TUFM as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.517 TUFM Chirag Patel Gene: tufm has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.516 TUFM Chirag Patel Source Genetic Health Queensland was removed from TUFM.
Source Expert list was added to TUFM.
Mode of inheritance for gene TUFM was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TUFM were changed from to Combined oxidative phosphorylation deficiency 4; OMIM #610678
Publications for gene TUFM were changed from PubMed: 26741492; 17160893 to PubMed: 26741492; 17160893
Intellectual disability syndromic and non-syndromic v0.515 TUFM Chirag Patel Deleted their comment
Intellectual disability syndromic and non-syndromic v0.515 TUFM Chirag Patel edited their review of gene: TUFM: Added comment: Developmental regression seen as part of mitochondrial disorder - 3 families

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

2 families with 2 children each with COXPD4 and biallelic mutations in the TUFM gene. The mutations segregated with the disorder in the families. Complementation with wildtype TUFM restored the complex I and IV assembly and complex IV activity levels in fibroblasts from 1 of the patients.; Changed rating: AMBER
Intellectual disability syndromic and non-syndromic v0.515 TUFM Chirag Patel reviewed gene: TUFM: Rating: GREEN; Mode of pathogenicity: None; Publications: PubMed: 26741492, 17160893; Phenotypes: Combined oxidative phosphorylation deficiency 4, OMIM #610678; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.515 TWNK Chirag Patel Classified gene: TWNK as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.515 TWNK Chirag Patel Gene: twnk has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.514 TWNK Chirag Patel Source Genetic Health Queensland was removed from TWNK.
Source Expert list was added to TWNK.
Mode of inheritance for gene TWNK was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: TWNK were changed from to Mitochondrial DNA depletion syndrome 7 (hepatocerebral type), OMIM #271245; Perrault syndrome 5, OMIM #616138; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3, OMIM #609286
Intellectual disability syndromic and non-syndromic v0.513 TWNK Chirag Patel reviewed gene: TWNK: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial DNA depletion syndrome 7 (hepatocerebral type), OMIM #271245, Perrault syndrome 5, OMIM #616138, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3, OMIM #609286; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.513 KANK1 Zornitza Stark Marked gene: KANK1 as ready
Intellectual disability syndromic and non-syndromic v0.513 KANK1 Zornitza Stark Gene: kank1 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.513 KANK1 Zornitza Stark Phenotypes for gene: KANK1 were changed from to Cerebral palsy, spastic quadriplegic, 2, MIM#612900
Intellectual disability syndromic and non-syndromic v0.512 KANK1 Zornitza Stark Publications for gene: KANK1 were set to
Intellectual disability syndromic and non-syndromic v0.511 KANK1 Zornitza Stark Mode of inheritance for gene: KANK1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.510 KANK1 Zornitza Stark Classified gene: KANK1 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.510 KANK1 Zornitza Stark Gene: kank1 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.509 KANK1 Zornitza Stark reviewed gene: KANK1: Rating: RED; Mode of pathogenicity: None; Publications: 16301218, 30684669; Phenotypes: Cerebral palsy, spastic quadriplegic, 2, MIM#612900; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.509 ACTA1 Zornitza Stark Marked gene: ACTA1 as ready
Intellectual disability syndromic and non-syndromic v0.509 ACTA1 Zornitza Stark Gene: acta1 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.509 ACTA1 Zornitza Stark Phenotypes for gene: ACTA1 were changed from to Myopathy, actin, congenital, with excess of thin myofilaments, MIM#161800; Nemaline myopathy 3, MIM#161800; Myopathy, actin, congenital, with cores, MIM#161800
Intellectual disability syndromic and non-syndromic v0.508 ACTA1 Zornitza Stark Publications for gene: ACTA1 were set to
Intellectual disability syndromic and non-syndromic v0.507 ACTA1 Zornitza Stark Mode of inheritance for gene: ACTA1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.506 ACTA1 Zornitza Stark Classified gene: ACTA1 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.506 ACTA1 Zornitza Stark Gene: acta1 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.505 ABCG5 Zornitza Stark Marked gene: ABCG5 as ready
Intellectual disability syndromic and non-syndromic v0.505 ABCG5 Zornitza Stark Gene: abcg5 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.505 ABCG5 Zornitza Stark Phenotypes for gene: ABCG5 were changed from to Sitosterolemia 2, MIM#618666
Intellectual disability syndromic and non-syndromic v0.504 ABCG5 Zornitza Stark Mode of inheritance for gene: ABCG5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.503 ABCG5 Zornitza Stark Classified gene: ABCG5 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.503 ABCG5 Zornitza Stark Gene: abcg5 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.502 JAG1 Zornitza Stark Marked gene: JAG1 as ready
Intellectual disability syndromic and non-syndromic v0.502 JAG1 Zornitza Stark Gene: jag1 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.502 JAG1 Zornitza Stark Phenotypes for gene: JAG1 were changed from to Alagille syndrome 1, MIM#118450
Intellectual disability syndromic and non-syndromic v0.501 JAG1 Zornitza Stark Mode of inheritance for gene: JAG1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.500 JAG1 Zornitza Stark Classified gene: JAG1 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.500 JAG1 Zornitza Stark Gene: jag1 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.499 JAG1 Zornitza Stark reviewed gene: JAG1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Alagille syndrome 1, MIM#118450; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.499 IYD Zornitza Stark Marked gene: IYD as ready
Intellectual disability syndromic and non-syndromic v0.499 IYD Zornitza Stark Gene: iyd has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.499 IYD Zornitza Stark Phenotypes for gene: IYD were changed from to Thyroid dyshormonogenesis 4, MIM#274800
Intellectual disability syndromic and non-syndromic v0.498 IYD Zornitza Stark Mode of inheritance for gene: IYD was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.497 IYD Zornitza Stark Classified gene: IYD as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.497 IYD Zornitza Stark Gene: iyd has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.496 IYD Zornitza Stark reviewed gene: IYD: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Thyroid dyshormonogenesis 4, MIM#274800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.496 ITCH Zornitza Stark Marked gene: ITCH as ready
Intellectual disability syndromic and non-syndromic v0.496 ITCH Zornitza Stark Gene: itch has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.496 ITCH Zornitza Stark Phenotypes for gene: ITCH were changed from to Autoimmune disease, multisystem, with facial dysmorphism, MIM#613385
Intellectual disability syndromic and non-syndromic v0.495 ITCH Zornitza Stark Publications for gene: ITCH were set to
Intellectual disability syndromic and non-syndromic v0.494 ITCH Zornitza Stark Mode of inheritance for gene: ITCH was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.493 ITCH Zornitza Stark Classified gene: ITCH as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.493 ITCH Zornitza Stark Gene: itch has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.492 ITCH Zornitza Stark reviewed gene: ITCH: Rating: AMBER; Mode of pathogenicity: None; Publications: 20170897; Phenotypes: Autoimmune disease, multisystem, with facial dysmorphism, MIM#613385; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.492 IREB2 Zornitza Stark Marked gene: IREB2 as ready
Intellectual disability syndromic and non-syndromic v0.492 IREB2 Zornitza Stark Gene: ireb2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.492 IREB2 Zornitza Stark Classified gene: IREB2 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.492 IREB2 Zornitza Stark Gene: ireb2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.491 IREB2 Zornitza Stark gene: IREB2 was added
gene: IREB2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Literature
Mode of inheritance for gene: IREB2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IREB2 were set to 30915432; 31243445; 11175792
Phenotypes for gene: IREB2 were set to Neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia, MIM#618451
Review for gene: IREB2 was set to GREEN
Added comment: Two affected individuals from unrelated families with functional evidence including concordant phenotype in mice.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.490 INS Zornitza Stark Marked gene: INS as ready
Intellectual disability syndromic and non-syndromic v0.490 INS Zornitza Stark Gene: ins has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.490 INS Zornitza Stark Phenotypes for gene: INS were changed from to Diabetes mellitus, permanent neonatal, MIM#606176
Intellectual disability syndromic and non-syndromic v0.489 INS Zornitza Stark Mode of inheritance for gene: INS was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.488 INS Zornitza Stark Classified gene: INS as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.488 INS Zornitza Stark Gene: ins has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.487 INS Zornitza Stark reviewed gene: INS: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Diabetes mellitus, permanent neonatal, MIM#606176; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.487 IMPA1 Zornitza Stark Marked gene: IMPA1 as ready
Intellectual disability syndromic and non-syndromic v0.487 IMPA1 Zornitza Stark Gene: impa1 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.487 IMPA1 Zornitza Stark Phenotypes for gene: IMPA1 were changed from to Mental retardation, autosomal recessive 59, MIM#617323
Intellectual disability syndromic and non-syndromic v0.486 IMPA1 Zornitza Stark Publications for gene: IMPA1 were set to
Intellectual disability syndromic and non-syndromic v0.485 IMPA1 Zornitza Stark Mode of inheritance for gene: IMPA1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.484 IMPA1 Zornitza Stark Classified gene: IMPA1 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.484 IMPA1 Zornitza Stark Gene: impa1 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.483 IMPA1 Zornitza Stark reviewed gene: IMPA1: Rating: AMBER; Mode of pathogenicity: None; Publications: 26416544, 30616629; Phenotypes: Mental retardation, autosomal recessive 59, MIM#617323; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.483 IMMP2L Zornitza Stark Marked gene: IMMP2L as ready
Intellectual disability syndromic and non-syndromic v0.483 IMMP2L Zornitza Stark Gene: immp2l has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.483 IMMP2L Zornitza Stark Phenotypes for gene: IMMP2L were changed from to Autism
Intellectual disability syndromic and non-syndromic v0.482 IMMP2L Zornitza Stark Publications for gene: IMMP2L were set to
Intellectual disability syndromic and non-syndromic v0.481 IMMP2L Zornitza Stark Mode of inheritance for gene: IMMP2L was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.480 IMMP2L Zornitza Stark Classified gene: IMMP2L as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.480 IMMP2L Zornitza Stark Gene: immp2l has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.479 IMMP2L Zornitza Stark reviewed gene: IMMP2L: Rating: RED; Mode of pathogenicity: None; Publications: 29788020, 29152845; Phenotypes: Autism; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.479 IFT27 Zornitza Stark Marked gene: IFT27 as ready
Intellectual disability syndromic and non-syndromic v0.479 IFT27 Zornitza Stark Gene: ift27 has been classified as Green List (High Evidence).
Mendeliome v0.160 IGF2 Zornitza Stark Marked gene: IGF2 as ready
Mendeliome v0.160 IGF2 Zornitza Stark Gene: igf2 has been classified as Green List (High Evidence).
Mendeliome v0.160 IGF2 Zornitza Stark Phenotypes for gene: IGF2 were changed from to Growth restriction, severe, with distinctive facies, MIM#616489
Mendeliome v0.159 IGF2 Zornitza Stark Publications for gene: IGF2 were set to
Mendeliome v0.158 IGF2 Zornitza Stark Mode of inheritance for gene: IGF2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.157 IGF2 Zornitza Stark reviewed gene: IGF2: Rating: GREEN; Mode of pathogenicity: None; Publications: 31544945, 26154720; Phenotypes: Growth restriction, severe, with distinctive facies, MIM#616489; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.479 IGF2 Zornitza Stark Phenotypes for gene: IGF2 were changed from to Growth restriction, severe, with distinctive facies, MIM#616489
Intellectual disability syndromic and non-syndromic v0.478 IGF2 Zornitza Stark Publications for gene: IGF2 were set to
Intellectual disability syndromic and non-syndromic v0.477 IGF2 Zornitza Stark Classified gene: IGF2 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.477 IGF2 Zornitza Stark Gene: igf2 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.476 IGF2 Zornitza Stark reviewed gene: IGF2: Rating: RED; Mode of pathogenicity: None; Publications: 31544945, 26154720; Phenotypes: Growth restriction, severe, with distinctive facies, MIM#616489; Mode of inheritance: None
Central Hypoventilation v0.2 SLC52A2 Zornitza Stark Marked gene: SLC52A2 as ready
Central Hypoventilation v0.2 SLC52A2 Zornitza Stark Gene: slc52a2 has been classified as Green List (High Evidence).
Central Hypoventilation v0.2 SLC52A2 Zornitza Stark Classified gene: SLC52A2 as Green List (high evidence)
Central Hypoventilation v0.2 SLC52A2 Zornitza Stark Gene: slc52a2 has been classified as Green List (High Evidence).
Central Hypoventilation v0.1 SLC52A2 Tegan French gene: SLC52A2 was added
gene: SLC52A2 was added to Central Hypoventilation_VCGS. Sources: Expert list
Mode of inheritance for gene: SLC52A2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC52A2 were set to 22864630; 23243084
Phenotypes for gene: SLC52A2 were set to Brown-Vialetto-Van Laere syndrome 2; 614707
Review for gene: SLC52A2 was set to GREEN
gene: SLC52A2 was marked as current diagnostic
Added comment: Brown-Vialetto-Van Laere syndrome 2
OMIM phenotype 614707
Neonatal hypoventilation is a feature of this condition. Patients may benefit from high dose riboflavin supplementation (summary by Johnson et al., 2012; Foley et al., 2014).
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.476 IFT27 Zornitza Stark Phenotypes for gene: IFT27 were changed from to Bardet-Biedl syndrome 19, MIM#615996
Intellectual disability syndromic and non-syndromic v0.475 IFT27 Zornitza Stark Publications for gene: IFT27 were set to
Intellectual disability syndromic and non-syndromic v0.474 IFT27 Zornitza Stark Mode of inheritance for gene: IFT27 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.473 IFT27 Zornitza Stark reviewed gene: IFT27: Rating: GREEN; Mode of pathogenicity: None; Publications: 24488770, 30761183; Phenotypes: Bardet-Biedl syndrome 19, MIM#615996; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Regression v0.17 MARS2 Zornitza Stark Deleted their review
Intellectual disability syndromic and non-syndromic v0.473 RNF135 Chirag Patel Classified gene: RNF135 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.473 RNF135 Chirag Patel Added comment: Comment on list classification: d/w Z.Stark - see review
Intellectual disability syndromic and non-syndromic v0.473 RNF135 Chirag Patel Gene: rnf135 has been classified as Red List (Low Evidence).
Mitochondrial disease v0.15 MARS2 Zornitza Stark Marked gene: MARS2 as ready
Mitochondrial disease v0.15 MARS2 Zornitza Stark Gene: mars2 has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.15 MARS2 Zornitza Stark Phenotypes for gene: MARS2 were changed from Combined oxidative phosphorylation deficiency 25, OMIM #616430; Spastic ataxia 3, autosomal recessive, OMIM #611390 to Combined oxidative phosphorylation deficiency 25, OMIM #616430; Spastic ataxia 3, autosomal recessive, OMIM #611390
Mitochondrial disease v0.14 MARS2 Zornitza Stark Classified gene: MARS2 as Amber List (moderate evidence)
Mitochondrial disease v0.14 MARS2 Zornitza Stark Gene: mars2 has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.13 MARS2 Zornitza Stark Publications for gene: MARS2 were set to
Mitochondrial disease v0.13 MARS2 Zornitza Stark Phenotypes for gene: MARS2 were changed from to Combined oxidative phosphorylation deficiency 25, OMIM #616430; Spastic ataxia 3, autosomal recessive, OMIM #611390
Mitochondrial disease v0.12 MARS2 Zornitza Stark Mode of inheritance for gene: MARS2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.12 MARS2 Zornitza Stark Classified gene: MARS2 as Amber List (moderate evidence)
Mitochondrial disease v0.12 MARS2 Zornitza Stark Gene: mars2 has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.11 MARS2 Zornitza Stark reviewed gene: MARS2: Rating: AMBER; Mode of pathogenicity: None; Publications: 25754315; Phenotypes: Combined oxidative phosphorylation deficiency 25, OMIM #616430, Spastic ataxia 3, autosomal recessive, OMIM #611390; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.472 MYMK Chirag Patel Classified gene: MYMK as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.472 MYMK Chirag Patel Added comment: Comment on list classification: r/v with Dr Stark - not ID gene.
Intellectual disability syndromic and non-syndromic v0.472 MYMK Chirag Patel Gene: mymk has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.471 UQCC2 Chirag Patel changed review comment from: Only 2 patients with mitochondrial disorder reported and they had ID; to: Only 2 patients with mitochondrial disorder reported and they had ID, with some functional evidence.
Intellectual disability syndromic and non-syndromic v0.471 UQCRQ Chirag Patel Classified gene: UQCRQ as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.471 UQCRQ Chirag Patel Added comment: Comment on list classification: r/v with Z.Stark - one family and no reports >10 years.
Intellectual disability syndromic and non-syndromic v0.471 UQCRQ Chirag Patel Gene: uqcrq has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.470 VPS37A Chirag Patel Classified gene: VPS37A as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.470 VPS37A Chirag Patel Added comment: Comment on list classification: r/v with Z.Stark - 2 families with functional data.
Intellectual disability syndromic and non-syndromic v0.470 VPS37A Chirag Patel Gene: vps37a has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.469 WASHC4 Chirag Patel Classified gene: WASHC4 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.469 WASHC4 Chirag Patel Added comment: Comment on list classification: r/v with Z.Stark - single family with limited functional evidence
Intellectual disability syndromic and non-syndromic v0.469 WASHC4 Chirag Patel Gene: washc4 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.468 WASHC5 Chirag Patel Classified gene: WASHC5 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.468 WASHC5 Chirag Patel Added comment: Comment on list classification: reviewed with Z.Stark - one family with founder mutation
Intellectual disability syndromic and non-syndromic v0.468 WASHC5 Chirag Patel Gene: washc5 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.467 ZNF423 Chirag Patel Classified gene: ZNF423 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.467 ZNF423 Chirag Patel Added comment: Comment on list classification: reviewed with Zornitza stark - single family only.
Intellectual disability syndromic and non-syndromic v0.467 ZNF423 Chirag Patel Gene: znf423 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.466 ZNF423 Chirag Patel Classified gene: ZNF423 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.466 ZNF423 Chirag Patel Gene: znf423 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.465 ZNF674 Chirag Patel Classified gene: ZNF674 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.465 ZNF674 Chirag Patel Gene: znf674 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.464 DUOXA2 Zornitza Stark Classified gene: DUOXA2 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.464 DUOXA2 Zornitza Stark Gene: duoxa2 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.463 DUOXA2 Zornitza Stark edited their review of gene: DUOXA2: Changed rating: RED
Intellectual disability syndromic and non-syndromic v0.463 GCK Zornitza Stark Classified gene: GCK as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.463 GCK Zornitza Stark Gene: gck has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.462 GCK Zornitza Stark edited their review of gene: GCK: Changed rating: RED
Intellectual disability syndromic and non-syndromic v0.462 MYO7A Chirag Patel Classified gene: MYO7A as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.462 MYO7A Chirag Patel Gene: myo7a has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.461 MYO7A Chirag Patel Source Genetic Health Queensland was removed from MYO7A.
Source Expert list was added to MYO7A.
Mode of inheritance for gene MYO7A was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: MYO7A were changed from to Deafness, autosomal dominant 11, OMIM #601317; Deafness, autosomal recessive 2, OMIM #600060; Usher syndrome, type 1B, OMIM #276900
Intellectual disability syndromic and non-syndromic v0.460 MYO7A Chirag Patel reviewed gene: MYO7A: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Deafness, autosomal dominant 11, OMIM #601317, Deafness, autosomal recessive 2, OMIM #600060, Usher syndrome, type 1B, OMIM #276900; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.460 MYMK Chirag Patel Classified gene: MYMK as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.460 MYMK Chirag Patel Gene: mymk has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.459 MYMK Chirag Patel Source Genetic Health Queensland was removed from MYMK.
Source Expert list was added to MYMK.
Mode of inheritance for gene MYMK was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MYMK were changed from to Carey-Fineman-Ziter syndrome; OMIM #254940
Intellectual disability syndromic and non-syndromic v0.458 MYMK Chirag Patel reviewed gene: MYMK: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Carey-Fineman-Ziter syndrome, OMIM #254940; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.458 MYH3 Chirag Patel Classified gene: MYH3 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.458 MYH3 Chirag Patel Gene: myh3 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.457 MYH3 Chirag Patel Source Genetic Health Queensland was removed from MYH3.
Source Expert list was added to MYH3.
Mode of inheritance for gene MYH3 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: MYH3 were changed from to Arthrogryposis, distal, type 2A (Freeman-Sheldon), OMIM #193700; Arthrogryposis, distal, type 2B3 (Sheldon-Hall), OMIM #618436; Contractures, pterygia, and variable skeletal fusions syndrome 1A, OMIM #178110; Contractures, pterygia, and variable skeletal fusions syndrome 1B, OMIM #618469
Intellectual disability syndromic and non-syndromic v0.456 MYH3 Chirag Patel reviewed gene: MYH3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Arthrogryposis, distal, type 2A (Freeman-Sheldon), OMIM #193700, Arthrogryposis, distal, type 2B3 (Sheldon-Hall), OMIM #618436, Contractures, pterygia, and variable skeletal fusions syndrome 1A, OMIM #178110, Contractures, pterygia, and variable skeletal fusions syndrome 1B, OMIM #618469; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.456 MTPAP Chirag Patel Classified gene: MTPAP as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.456 MTPAP Chirag Patel Gene: mtpap has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.455 MTPAP Chirag Patel Source Genetic Health Queensland was removed from MTPAP.
Source Expert list was added to MTPAP.
Mode of inheritance for gene MTPAP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MTPAP were changed from to ?Spastic ataxia 4, autosomal recessive; OMIM#613672
Intellectual disability syndromic and non-syndromic v0.454 MTPAP Chirag Patel reviewed gene: MTPAP: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ?Spastic ataxia 4, autosomal recessive, OMIM#613672; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.454 MTO1 Chirag Patel Deleted their comment
Intellectual disability syndromic and non-syndromic v0.454 MTO1 Chirag Patel edited their review of gene: MTO1: Added comment: ID is seen as part of this mitochondrial disorder - >35 families reported; Changed publications: PMID: 26061759, 29331171, 23929671
Intellectual disability syndromic and non-syndromic v0.454 MTO1 Chirag Patel Source Genetic Health Queensland was removed from MTO1.
Source Expert list was added to MTO1.
Mode of inheritance for gene MTO1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MTO1 were changed from to Combined oxidative phosphorylation deficiency 10; OMIM #614702
Publications for gene MTO1 were changed from PMID: 26061759; 29331171; 23929671 to PMID: 26061759; 29331171; 23929671
Intellectual disability syndromic and non-syndromic v0.453 MTO1 Chirag Patel reviewed gene: MTO1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 26061759, 29331171; Phenotypes: Combined oxidative phosphorylation deficiency 10, OMIM #614702; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal