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| DDG2P v6.269 | NDUFV2 | Achchuthan Shanmugasundram Mode of pathogenicity for gene: NDUFV2 was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | NDUFV2 | Achchuthan Shanmugasundram edited their review of gene: NDUFV2: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for NDUFV2-related mitochondrial complex I deficiency, nuclear are moderate, biallelic_autosomal and undetermined (PMIDs: 12754703, 26008862, 33811136, 34405929). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03314.; Changed publications to: 12754703, 33811136, 26008862, 34405929; Changed phenotypes to: Mitochondrial complex I deficiency, nuclear type 7, OMIM:618229, MONDO:0032612, NDUFV2-related mitochondrial complex I deficiency, nuclear, OMIM:618229.0 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | NDUFV2 | Achchuthan Shanmugasundram reviewed gene: NDUFV2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 26008862, 33811136; Phenotypes: Mitochondrial complex I deficiency, nuclear type 7, OMIM:618229; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | NDUFV2 |
Achchuthan Shanmugasundram gene: NDUFV2 was added gene: NDUFV2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: NDUFV2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NDUFV2 were set to 26008862; 33811136 Phenotypes for gene: NDUFV2 were set to Mitochondrial complex I deficiency, nuclear type 7, OMIM:618229 Mode of pathogenicity for gene: NDUFV2 was set to Other |
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