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| DDG2P v3.12 | GABRA1 | Achchuthan Shanmugasundram reviewed gene: GABRA1: Rating: GREEN; Mode of pathogenicity: ; Publications: 11992121, 23934111; Phenotypes: EPILEPTIC ENCEPHALOPATHY, JUVENILE MYOCLONIC EPILEPSY, OMIM:611136; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | GABRA1 |
Achchuthan Shanmugasundram Source Expert Review Green was added to GABRA1. Publications for gene: GABRA1 were updated from 23934111 to 11992121; 23934111 Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v0.2 | GABRA1 | Rebecca Foulger reviewed gene: GABRA1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | GABRA1 |
Rebecca Foulger Added phenotypes EPILEPTIC ENCEPHALOPATHY for gene: GABRA1 Publications for gene GABRA1 were changed from 11992121 to 23934111 |
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| DDG2P v0.1 | GABRA1 |
Rebecca Foulger gene: GABRA1 was added gene: GABRA1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: GABRA1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: GABRA1 were set to 11992121 Phenotypes for gene: GABRA1 were set to JUVENILE MYOCLONIC EPILEPSY 611136 |
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