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| DDG2P v6.169 | FXN | Achchuthan Shanmugasundram Mode of pathogenicity for gene: FXN was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | FXN | Achchuthan Shanmugasundram edited their review of gene: FXN: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for FXN-related Friedreich ataxia are definitive, biallelic_autosomal and loss of function (PMIDs: 10633128, 22409940, 22691228, 24705334, 25566998, 26704351, 28405347, 30681346). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03444.; Changed publications to: 22409940, 10633128, 24705334, 28405347, 30681346, 25566998, 22691228, 26704351; Changed phenotypes to: FXN-related Friedreich ataxia, MONDO:0100340, OMIM:229300.0 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v5.44 | FXN | Achchuthan Shanmugasundram changed review comment from: The DDG2P confidence category for the disease FXN-related Friedreich ataxia is definitive. The allelic requirement and mutation consequence are biallelic_autosomal and altered gene product structure;decreased gene product level (PMID: 28405347;25566998;30681346;24705334;10633128;22409940;26704351;22691228).; to: The DDG2P confidence category for the disease FXN-related Friedreich ataxia is definitive. The allelic requirement and mutation consequence are biallelic_autosomal and altered gene product structure;decreased gene product level. This gene is typified by age related penetrance (PMID: 28405347;25566998;30681346;24705334;10633128;22409940;26704351;22691228). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v5.3 | FXN | Achchuthan Shanmugasundram reviewed gene: FXN: Rating: GREEN; Mode of pathogenicity: Other; Publications: 22691228, 10633128, 26704351, 25566998, 28405347, 30681346, 22409940, 24705334; Phenotypes: FXN-related Friedreich ataxia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v5.2 | FXN |
Achchuthan Shanmugasundram gene: FXN was added gene: FXN was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: FXN was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FXN were set to 22691228; 24705334; 26704351; 22409940; 28405347; 25566998; 10633128; 30681346 Phenotypes for gene: FXN were set to FXN-related Friedreich ataxia Mode of pathogenicity for gene: FXN was set to Other |
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