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| Early onset or syndromic epilepsy v3.4 | BET1 | Achchuthan Shanmugasundram Phenotypes for gene: BET1 were changed from Epilepsy; congenical musculara dystrophy to Epilepsy, MONDO:0005027 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v3.3 | BET1 | Achchuthan Shanmugasundram Publications for gene: BET1 were set to PMID: 34779586 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v3.2 | BET1 | Achchuthan Shanmugasundram Classified gene: BET1 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v3.2 | BET1 | Achchuthan Shanmugasundram Gene: bet1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v3.1 | BET1 | Achchuthan Shanmugasundram reviewed gene: BET1: Rating: RED; Mode of pathogenicity: None; Publications: 34779586; Phenotypes: Epilepsy, MONDO:0005027; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v2.478 | BET1 |
Dmitrijs Rots gene: BET1 was added gene: BET1 was added to Genetic epilepsy syndromes. Sources: Literature Mode of inheritance for gene: BET1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: BET1 were set to PMID: 34779586 Phenotypes for gene: BET1 were set to Epilepsy; congenical musculara dystrophy Penetrance for gene: BET1 were set to Complete Review for gene: BET1 was set to GREEN Added comment: 3 reported individuals from two families with biallelic variants and functional data supporting the role of the variants in the phenotype. Enough evidence for green rating. Sources: Literature |
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