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| DDG2P v6.314 | RAB34 | Achchuthan Shanmugasundram Mode of pathogenicity for gene: RAB34 was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | RAB34 | Achchuthan Shanmugasundram edited their review of gene: RAB34: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for RAB34-related orofaciodigital syndrome are moderate, biallelic_autosomal and loss of function (PMIDs: 37384395, 37619988). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03529.; Changed publications to: 37384395, 37619988; Changed phenotypes to: RAB34-related orofaciodigital syndrome, OMIM:620718.0, MONDO:0958230 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v4.10 | RAB34 | Achchuthan Shanmugasundram reviewed gene: RAB34: Rating: GREEN; Mode of pathogenicity: Other; Publications: 37619988, 37384395; Phenotypes: RAB34-related orofaciodigital syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v4.9 | RAB34 |
Achchuthan Shanmugasundram gene: RAB34 was added gene: RAB34 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: RAB34 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RAB34 were set to 37619988; 37384395 Phenotypes for gene: RAB34 were set to RAB34-related orofaciodigital syndrome Mode of pathogenicity for gene: RAB34 was set to Other |
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