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| DDG2P v3.84 | SLC32A1 | Arina Puzriakova Added comment: Comment on phenotypes: Gene-checked tag removed as this gene now has a relevant phenotype listed in OMIM (Developmental and epileptic encephalopathy 114, OMIM:620774) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.84 | SLC32A1 | Arina Puzriakova Phenotypes for gene: SLC32A1 were changed from SLC32A1-associated developmental and epileptic encephalopathy to Developmental and epileptic encephalopathy 114, OMIM:620774 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.83 | SLC32A1 | Arina Puzriakova Tag gene-checked was removed from gene: SLC32A1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.73 | SLC32A1 | Eleanor Williams commented on gene: SLC32A1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.73 | SLC32A1 | Eleanor Williams Tag gene-checked tag was added to gene: SLC32A1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SLC32A1 | Achchuthan Shanmugasundram reviewed gene: SLC32A1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 34038384, 36073542; Phenotypes: SLC32A1-associated developmental and epileptic encephalopathy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | SLC32A1 |
Achchuthan Shanmugasundram gene: SLC32A1 was added gene: SLC32A1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SLC32A1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SLC32A1 were set to 34038384; 36073542 Phenotypes for gene: SLC32A1 were set to SLC32A1-associated developmental and epileptic encephalopathy Mode of pathogenicity for gene: SLC32A1 was set to Other |
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