Activity
| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
7 actions
|
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.270 | NDUFS8 | Achchuthan Shanmugasundram Publications for gene: NDUFS8 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.268 | NDUFS8 | Achchuthan Shanmugasundram Mode of pathogenicity for gene: NDUFS8 was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | NDUFS8 | Achchuthan Shanmugasundram edited their review of gene: NDUFS8: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for NDUFS8-related mitochondrial respiratory chain complex I deficiency are definitive, biallelic_autosomal and loss of function (PMIDs: 15159508, 22499348, 36101822, 38229652, 9837812). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00224.; Changed publications to: 15159508, 22499348, 38229652, 36101822, 9837812; Changed phenotypes to: MONDO:0032606, NDUFS8-related mitochondrial respiratory chain complex I deficiency, MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX I DEFICIENCY, OMIM:252010, OMIM:618222.0 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | NDUFS8 | Achchuthan Shanmugasundram reviewed gene: NDUFS8: Rating: GREEN; Mode of pathogenicity: Other; Publications: ; Phenotypes: MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX I DEFICIENCY, OMIM:252010; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | NDUFS8 | Achchuthan Shanmugasundram Mode of pathogenicity for gene NDUFS8 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | NDUFS8 | Rebecca Foulger reviewed gene: NDUFS8: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | NDUFS8 |
Rebecca Foulger gene: NDUFS8 was added gene: NDUFS8 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: NDUFS8 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NDUFS8 were set to MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX I DEFICIENCY 252010 Mode of pathogenicity for gene: NDUFS8 was set to Other - please provide details in the comments |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||