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| Genetic Epilepsy v0.886 | SETD1A | Zornitza Stark Phenotypes for gene: SETD1A were changed from Epilepsy to Epilepsy, early-onset, with or without developmental delay, MIM# 618832; Neurodevelopmental disorder with speech impairment and dysmorphic facies, MIM# 619056 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.885 | SETD1A | Zornitza Stark Publications for gene: SETD1A were set to 31197650 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.884 | SETD1A |
Zornitza Stark edited their review of gene: SETD1A: Added comment: OMIM has assigned a second phenotype in relation to the syndromic ID cohort reported in PMID 32346159. All variants were predicted to disrupt or delete the SET catalytic domain, and LOF is the established mechanism. In addition, there are 4 families reported with a predominantly seizure phenotype without ID, PMID 31197650. All the variants are missense and mechanism of pathogenicity is not clearly established, hence it is difficult to know whether these are two distinct conditions or part of a spectrum of severity for SETD1A-related disorders.; Changed phenotypes: Epilepsy, early-onset, with or without developmental delay, MIM# 618832, Neurodevelopmental disorder with speech impairment and dysmorphic facies, MIM# 619056 |
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| Genetic Epilepsy v0.884 | SETD1A |
Zornitza Stark changed review comment from: Four unrelated families reported: in three, the variants occurred de novo, and in the fourth, it segregated with disease. Some functional data. Sources: Literature; to: PMID: 31197650. Four unrelated families reported: in three, the variants occurred de novo, and in the fourth, it segregated with disease. Some functional data. Sources: Literature |
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| Genetic Epilepsy v0.874 | SETD1A | Zornitza Stark edited their review of gene: SETD1A: Added comment: PMID 32346159: Described 15 individuals with de novo SETD1A variants presenting with global developmental delay and/or intellectual disability, subtle facial dysmorphisms, behavioral and psychiatric problems. Examined cellular phenotypes in three patient-derived cell lines with three variants: p.Gly535Alafs*12, c.4582-2_4582delAG, and p.Tyr1499Asp and results suggested that that these variants behave as loss-of-function (LoF) alleles.; Changed publications: 31197650, 32346159; Changed phenotypes: Epilepsy, Intellectual disability | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.135 | SETD1A | Zornitza Stark Marked gene: SETD1A as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.135 | SETD1A | Zornitza Stark Gene: setd1a has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.135 | SETD1A | Zornitza Stark Classified gene: SETD1A as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.135 | SETD1A | Zornitza Stark Gene: setd1a has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.134 | SETD1A |
Zornitza Stark gene: SETD1A was added gene: SETD1A was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Literature Mode of inheritance for gene: SETD1A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SETD1A were set to 31197650 Phenotypes for gene: SETD1A were set to Epilepsy Review for gene: SETD1A was set to GREEN Added comment: Four unrelated families reported: in three, the variants occurred de novo, and in the fourth, it segregated with disease. Some functional data. Sources: Literature |
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