Activity
| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
7 actions
|
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.269 | NDUFV1 | Achchuthan Shanmugasundram Publications for gene: NDUFV1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.268 | NDUFV1 | Achchuthan Shanmugasundram Mode of pathogenicity for gene: NDUFV1 was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | NDUFV1 | Achchuthan Shanmugasundram edited their review of gene: NDUFV1: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for NDUFV1-related mitochondrial complex I deficiency are definitive, biallelic_autosomal and undetermined (PMIDs: 10080174, 11349233, 35482246, 38626668, 39525154, 40207266). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00512.; Changed publications to: 39525154, 11349233, 40207266, 35482246, 10080174, 38626668; Changed phenotypes to: MITOCHONDRIAL COMPLEX I DEFICIENCY, OMIM:252010, NDUFV1-related mitochondrial complex I deficiency, OMIM:618225.0, MONDO:0032609 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | NDUFV1 | Achchuthan Shanmugasundram reviewed gene: NDUFV1: Rating: GREEN; Mode of pathogenicity: Other; Publications: ; Phenotypes: MITOCHONDRIAL COMPLEX I DEFICIENCY, OMIM:252010; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | NDUFV1 | Achchuthan Shanmugasundram Mode of pathogenicity for gene NDUFV1 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | NDUFV1 | Rebecca Foulger reviewed gene: NDUFV1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | NDUFV1 |
Rebecca Foulger gene: NDUFV1 was added gene: NDUFV1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: NDUFV1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NDUFV1 were set to MITOCHONDRIAL COMPLEX I DEFICIENCY 252010 Mode of pathogenicity for gene: NDUFV1 was set to Other - please provide details in the comments |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||