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| DDG2P v6.162 | FDXR | Achchuthan Shanmugasundram Mode of pathogenicity for gene: FDXR was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | FDXR | Achchuthan Shanmugasundram edited their review of gene: FDXR: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for FDXR-related optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome are strong, biallelic_autosomal and loss of function (PMIDs: 28965846, 30250212, 32499495, 33938912). The cross-cutting modifier is potential secondary finding. More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03502.; Changed publications to: 32499495, 28965846, 33938912, 30250212; Changed phenotypes to: OMIM:617717.0, FDXR-related optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome, MONDO:0034092 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v4.10 | FDXR | Achchuthan Shanmugasundram reviewed gene: FDXR: Rating: GREEN; Mode of pathogenicity: Other; Publications: 30250212, 28965846, 33938912, 32499495; Phenotypes: FDXR-related optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v4.9 | FDXR |
Achchuthan Shanmugasundram gene: FDXR was added gene: FDXR was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: FDXR was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FDXR were set to 30250212; 28965846; 33938912; 32499495 Phenotypes for gene: FDXR were set to FDXR-related optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome Mode of pathogenicity for gene: FDXR was set to Other |
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