Structural basal ganglia disorders
Gene: NDUFS8EnsemblGeneIds (GRCh38): ENSG00000110717
EnsemblGeneIds (GRCh37): ENSG00000110717
OMIM: 602141, Gene2Phenotype
NDUFS8 is in 15 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 8 variants reported.Created: 2 Mar 2017, 3:52 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
- 602141
- Clinvar variants
- Variants in NDUFS8
- Penetrance
- Complete
- Panels with this gene
-
- Structural basal ganglia disorders
- Intellectual disability
- Early onset or syndromic epilepsy
- Likely inborn error of metabolism
- Undiagnosed metabolic disorders
- DDG2P
- White matter disorders and cerebral calcification - narrow panel
- Childhood onset dystonia, chorea or related movement disorder
- Mitochondrial disorder with complex I deficiency
- Inherited white matter disorders
- Possible mitochondrial disorder - nuclear genes
- Fetal anomalies
- Mitochondrial disorders
- Adult onset dystonia, chorea or related movement disorder
- Paediatric or syndromic cardiomyopathy
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).
Added New Source
Manju Kurian (UCL-Institute of Child Health)NDUFS8 was added to Structural basal ganglia disorderspanel. Sources: Literature
Created
Manju Kurian (UCL-Institute of Child Health)NDUFS8 was created by Manju