Structural basal ganglia disorders
Gene: NDUFS7EnsemblGeneIds (GRCh38): ENSG00000115286
EnsemblGeneIds (GRCh37): ENSG00000115286
OMIM: 601825, Gene2Phenotype
NDUFS7 is in 16 panels
3 reviews
Sarah Leigh (Genomics England Curator)
Comment when marking as ready: Associated with phenotype in OMIM and as a confirmed G2P. At least 3 variants reported in 3 cases.Created: 2 Mar 2017, 3:50 p.m.
Manju Kurian (UCL-Institute of Child Health)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Shamima Rahman (UCL Institute of Child Health)
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- OMIM
- 601825
- Clinvar variants
- Variants in NDUFS7
- Penetrance
- Complete
- 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
panel promoted to version 1
Sarah Leigh (Genomics England Curator)promoted 16/03/2017
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Created
Manju Kurian (UCL-Institute of Child Health)NDUFS7 was created by Manju
Added New Source
Manju Kurian (UCL-Institute of Child Health)NDUFS7 was added to Structural basal ganglia disorderspanel. Sources: Literature