Activity
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4 actions
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| DDG2P v6.75 | BAP1 | Achchuthan Shanmugasundram Mode of pathogenicity for gene: BAP1 was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | BAP1 | Achchuthan Shanmugasundram edited their review of gene: BAP1: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for BAP1-related neurodevelopmental syndrome are moderate, monoallelic_autosomal and undetermined (PMID:35051358). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03243.; Changed phenotypes to: MONDO:0859230, BAP1-associated neurodevelopmental syndrome, BAP1-related neurodevelopmental syndrome, OMIM:619762.0 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | BAP1 | Achchuthan Shanmugasundram reviewed gene: BAP1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 35051358; Phenotypes: BAP1-associated neurodevelopmental syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | BAP1 |
Achchuthan Shanmugasundram gene: BAP1 was added gene: BAP1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: BAP1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: BAP1 were set to 35051358 Phenotypes for gene: BAP1 were set to BAP1-associated neurodevelopmental syndrome Mode of pathogenicity for gene: BAP1 was set to Other |
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