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| DDG2P v3.12 | GABRB3 | Achchuthan Shanmugasundram reviewed gene: GABRB3: Rating: GREEN; Mode of pathogenicity: Other; Publications: 18514161, 27476654, 23934111; Phenotypes: CHILDHOOD ABSENCE EPILEPSY TYPE 5, OMIM:612269; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | GABRB3 |
Achchuthan Shanmugasundram Mode of pathogenicity for gene GABRB3 was changed from Other - please provide details in the comments to Other Publications for gene: GABRB3 were updated from 23934111; 27476654 to 27476654; 18514161; 23934111 |
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| DDG2P v0.2 | GABRB3 | Rebecca Foulger reviewed gene: GABRB3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | GABRB3 |
Rebecca Foulger Added phenotypes EPILEPTIC ENCEPHALOPATHIES for gene: GABRB3 Publications for gene GABRB3 were changed from 18514161 to 23934111; 27476654 |
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| DDG2P v0.1 | GABRB3 |
Rebecca Foulger gene: GABRB3 was added gene: GABRB3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: GABRB3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: GABRB3 were set to 18514161 Phenotypes for gene: GABRB3 were set to CHILDHOOD ABSENCE EPILEPSY TYPE 5 612269 Mode of pathogenicity for gene: GABRB3 was set to Other - please provide details in the comments |
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