Structural basal ganglia disorders
Gene: NDUFS4
NDUFS4 (NADH:ubiquinone oxidoreductase subunit S4)
EnsemblGeneIds (GRCh38): ENSG00000164258
EnsemblGeneIds (GRCh37): ENSG00000164258
OMIM: 602694, Gene2Phenotype
NDUFS4 is in 15 panels
EnsemblGeneIds (GRCh38): ENSG00000164258
EnsemblGeneIds (GRCh37): ENSG00000164258
OMIM: 602694, Gene2Phenotype
NDUFS4 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 3 variants reported in at least 4 cases, together with supporting in vitro data.Created: 2 Mar 2017, 3:38 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
- Phenotypes
-
- Leigh syndrome 256000
- Mitochondrial complex I deficiency 252010
- OMIM
- 602694
- Clinvar variants
- Variants in NDUFS4
- Penetrance
- Complete
- Publications
- 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
- Inherited white matter disorders
- Likely inborn error of metabolism
- Possible mitochondrial disorder - nuclear genes
History Filter Activity
16 Mar 2017, Gel status: 4
panel promoted to version 1
Sarah Leigh (Genomics England Curator)promoted 16/03/2017
2 Mar 2017, Gel status: 4
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
2 Mar 2017, Gel status: 4
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for NDUFS4 were set to Leigh syndrome 256000;Mitochondrial complex I deficiency 252010
2 Mar 2017, Gel status: 4
Set publications
Sarah Leigh (Genomics England Curator)Publications for NDUFS4 were set to 24020637
2 Mar 2017, Gel status: 4
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
1 Mar 2017, Gel status: 0
Added New Source
Manju Kurian (UCL-Institute of Child Health)NDUFS4 was added to Structural basal ganglia disorderspanel. Sources: Literature
1 Mar 2017, Gel status: 0
Created
Manju Kurian (UCL-Institute of Child Health)NDUFS4 was created by Manju