Activity
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| DDG2P v6.198 | HMGCR | Achchuthan Shanmugasundram Mode of pathogenicity for gene: HMGCR was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | HMGCR | Achchuthan Shanmugasundram edited their review of gene: HMGCR: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for HMGCR-related limb-girdle muscular dystrophy are moderate, biallelic_autosomal and loss of function (PMIDs: 36745799, 37167966). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03528.; Changed phenotypes to: HMGCR-related limb-girdle muscular dystrophy, MONDO:0957270, OMIM:620375.0 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v4.10 | HMGCR | Achchuthan Shanmugasundram reviewed gene: HMGCR: Rating: GREEN; Mode of pathogenicity: Other; Publications: 37167966, 36745799; Phenotypes: HMGCR-related limb-girdle muscular dystrophy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v4.9 | HMGCR |
Achchuthan Shanmugasundram gene: HMGCR was added gene: HMGCR was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: HMGCR was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HMGCR were set to 37167966; 36745799 Phenotypes for gene: HMGCR were set to HMGCR-related limb-girdle muscular dystrophy Mode of pathogenicity for gene: HMGCR was set to Other |
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