Mitochondrial disease
Gene: NDUFS7
NDUFS7 (NADH:ubiquinone oxidoreductase core subunit S7)
EnsemblGeneIds (GRCh38): ENSG00000115286
EnsemblGeneIds (GRCh37): ENSG00000115286
OMIM: 601825, Gene2Phenotype
NDUFS7 is in 12 panels
EnsemblGeneIds (GRCh38): ENSG00000115286
EnsemblGeneIds (GRCh37): ENSG00000115286
OMIM: 601825, Gene2Phenotype
NDUFS7 is in 12 panels
1 review
Ain Roesley (Victorian Clinical Genetics Services)
PMID: 22644603; 6 individuals including a pair of bothers. All missense variants (with recurrent p.(Val122Met)) except for 1 deep intronic splice with functional studies proving the creation of a cryptic splice leading to a frameshift. All patients have Leigh syndrome.Created: 4 May 2020, 2:59 a.m. | Last Modified: 4 May 2020, 2:59 a.m.
Panel Version: 0.445
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mitochondrial complex I deficiency, nuclear type 3 (MIM# 618224)
Publications
- PMID: 22644603
Details
- Mode of Inheritance
- Unknown
- Sources
-
- Victorian Clinical Genetics Services
- Australian Genomics Health Alliance Mitochondrial Flagship
- Expert Review Green
- OMIM
- 601825
- Clinvar variants
- Variants in NDUFS7
- Penetrance
- None
- Panels with this gene
History Filter Activity
17 Nov 2019, Gel status: 3
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: NDUFS7 was added gene: NDUFS7 was added to Mitochondrial_AGHA_VCGS. Sources: Expert Review Green,Australian Genomics Health Alliance Mitochondrial Flagship,Victorian Clinical Genetics Services Mode of inheritance for gene: NDUFS7 was set to Unknown