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
-
- Fetal anomalies
- Structural basal ganglia disorders
- White matter disorders and cerebral calcification - narrow panel
- Undiagnosed metabolic disorders
- Early onset or syndromic epilepsy
- Optic neuropathy
- Likely inborn error of metabolism
- Inherited white matter disorders
- Paediatric or syndromic cardiomyopathy
- Mitochondrial disorders
- Intellectual disability
- Adult onset dystonia, chorea or related movement disorder
- Childhood onset dystonia, chorea or related movement disorder
- DDG2P
- Possible mitochondrial disorder - nuclear genes
- Mitochondrial disorder with complex I deficiency
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