Activity
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| DDG2P v6.117 | COPB1 | Achchuthan Shanmugasundram Mode of pathogenicity for gene: COPB1 was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | COPB1 | Achchuthan Shanmugasundram edited their review of gene: COPB1: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for COPB1-related severe intellectual disability syndrome with cataracts and variable microcephaly are limited, biallelic_autosomal and undetermined (PMID:33632302). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03110.; Changed phenotypes to: COPB1-related severe intellectual disability syndrome with cataracts and variable microcephaly, MONDO:0031002, OMIM:619255.0 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | COPB1 | Achchuthan Shanmugasundram reviewed gene: COPB1: Rating: RED; Mode of pathogenicity: Other; Publications: 33632302; Phenotypes: COPB1-related severe intellectual disability syndrome with cataracts and variable microcephaly; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | COPB1 |
Achchuthan Shanmugasundram gene: COPB1 was added gene: COPB1 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red Mode of inheritance for gene: COPB1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: COPB1 were set to 33632302 Phenotypes for gene: COPB1 were set to COPB1-related severe intellectual disability syndrome with cataracts and variable microcephaly Mode of pathogenicity for gene: COPB1 was set to Other |
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