Possible mitochondrial disorder - nuclear genes
Gene: NDUFS7
NDUFS7 (NADH:ubiquinone oxidoreductase core subunit S7)
EnsemblGeneIds (GRCh38): ENSG00000115286
EnsemblGeneIds (GRCh37): ENSG00000115286
OMIM: 601825, Gene2Phenotype
NDUFS7 is in 16 panels
EnsemblGeneIds (GRCh38): ENSG00000115286
EnsemblGeneIds (GRCh37): ENSG00000115286
OMIM: 601825, Gene2Phenotype
NDUFS7 is in 16 panels
2 reviews
Ivone Leong (Genomics England Curator)
Initial gene list and info collated by Carl Fratter (Oxford University Hospitals NHS Trust) January 2019 on behalf of the GMS Mitochondrial specialist test group.Created: 4 Feb 2019, 1:36 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mitochondrial complex I deficiency, nuclear type 3, 618224
Shamima Rahman (UCL Institute of Child Health)
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Expert Review Green
- Phenotypes
-
- Mitochondrial complex I deficiency, nuclear type 3, 618224
- OMIM
- 601825
- Clinvar variants
- Variants in NDUFS7
- Penetrance
- None
- Panels with this gene
-
- Paediatric or syndromic cardiomyopathy
- Early onset or syndromic epilepsy
- Fetal anomalies
- Undiagnosed metabolic disorders
- Mitochondrial disorder with complex I deficiency
- White matter disorders and cerebral calcification - narrow panel
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
- Structural basal ganglia disorders
- Adult onset dystonia, chorea or related movement disorder
- Mitochondrial disorders
- DDG2P
- Optic neuropathy
- Inherited white matter disorders
- Likely inborn error of metabolism
- Possible mitochondrial disorder - nuclear genes
History Filter Activity
4 Feb 2019, Gel status: 4
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ivone Leong (Genomics England Curator)gene: NDUFS7 was added gene: NDUFS7 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: NDUFS7 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NDUFS7 were set to Mitochondrial complex I deficiency, nuclear type 3, 618224