Activity
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| DDG2P v6.170 | GABBR1 | Achchuthan Shanmugasundram Mode of pathogenicity for gene: GABBR1 was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | GABBR1 | Achchuthan Shanmugasundram edited their review of gene: GABBR1: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for GABBR1-related neurodevelopmental disorder are moderate, monoallelic_autosomal and undetermined (PMID:36103875). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03347.; Changed phenotypes to: GABBR1-related neurodevelopmental disorder, OMIM:620502.0, GABBR1-associated neurodevelopmental disorder, MONDO:0957779 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | GABBR1 | Achchuthan Shanmugasundram reviewed gene: GABBR1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 36103875; Phenotypes: GABBR1-associated neurodevelopmental disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | GABBR1 |
Achchuthan Shanmugasundram gene: GABBR1 was added gene: GABBR1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: GABBR1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: GABBR1 were set to 36103875 Phenotypes for gene: GABBR1 were set to GABBR1-associated neurodevelopmental disorder Mode of pathogenicity for gene: GABBR1 was set to Other |
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