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| DDG2P v6.409 | VPS4A | Achchuthan Shanmugasundram Mode of pathogenicity for gene: VPS4A was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | VPS4A | Achchuthan Shanmugasundram edited their review of gene: VPS4A: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for VPS4A-related CIMDAG Syndrome (monoallelic) are definitive, monoallelic_autosomal and dominant negative (PMIDs: 33186543, 33186545). The cross-cutting modifier is restricted mutation set. More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03076. The DDG2P confidence category, allelic requirement and molecular mechanism for VPS4A-related CIMDAG Syndrome (biallelic) are limited, biallelic_autosomal and undetermined (PMID:33186543). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03077.; Changed phenotypes to: MONDO:0035819, CIMDAG Syndrome, biallelic, OMIM:619273.0, VPS4A-related CIMDAG Syndrome (monoallelic), CIMDAG Syndrome, monoallelic, VPS4A-related CIMDAG Syndrome (biallelic) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | VPS4A | Achchuthan Shanmugasundram reviewed gene: VPS4A: Rating: GREEN; Mode of pathogenicity: Other; Publications: 33186543, 33186545; Phenotypes: CIMDAG Syndrome, biallelic, CIMDAG Syndrome, monoallelic; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | VPS4A |
Achchuthan Shanmugasundram gene: VPS4A was added gene: VPS4A was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: VPS4A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: VPS4A were set to 33186543; 33186545 Phenotypes for gene: VPS4A were set to CIMDAG Syndrome, biallelic; CIMDAG Syndrome, monoallelic Mode of pathogenicity for gene: VPS4A was set to Other |
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