Structural basal ganglia disorders
Gene: NDUFA10
NDUFA10 (NADH:ubiquinone oxidoreductase subunit A10)
EnsemblGeneIds (GRCh38): ENSG00000130414
EnsemblGeneIds (GRCh37): ENSG00000130414
OMIM: 603835, Gene2Phenotype
NDUFA10 is in 14 panels
EnsemblGeneIds (GRCh38): ENSG00000130414
EnsemblGeneIds (GRCh37): ENSG00000130414
OMIM: 603835, Gene2Phenotype
NDUFA10 is in 14 panels
3 reviews
Sarah Leigh (Genomics England Curator)
Comment when marking as ready: Associated with phenotype in OMIM and as a probable G2P. At least 5 variants reported in 3 cases.Created: 6 Mar 2017, 3:32 p.m.
Manju Kurian (UCL-Institute of Child Health)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Shamima Rahman (UCL Institute of Child Health)
only one patient reported in literature to dateCreated: 3 Feb 2016, 4:50 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Leigh syndrome 256000
- OMIM
- 603835
- Clinvar variants
- Variants in NDUFA10
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Optic neuropathy
- Mitochondrial disorder with complex I deficiency
- Early onset or syndromic epilepsy
- Mitochondrial disorders
- Structural basal ganglia disorders
- Paediatric or syndromic cardiomyopathy
- Likely inborn error of metabolism
- Childhood onset dystonia, chorea or related movement disorder
- Intellectual disability
- Possible mitochondrial disorder - nuclear genes
- Adult onset dystonia, chorea or related movement disorder
- Undiagnosed metabolic disorders
- Fetal anomalies
- DDG2P
History Filter Activity
16 Mar 2017, Gel status: 4
panel promoted to version 1
Sarah Leigh (Genomics England Curator)promoted 16/03/2017
6 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).
6 Mar 2017, Gel status: 0
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been removed from the panel.
6 Mar 2017, Gel status: 0
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for NDUFA10 were set to Leigh syndrome 256000
6 Mar 2017, Gel status: 0
Set publications
Sarah Leigh (Genomics England Curator)Publications for NDUFA10 were set to 26741492; 21150889; 28247337
1 Mar 2017, Gel status: 0
Created
Manju Kurian (UCL-Institute of Child Health)NDUFA10 was created by Manju
1 Mar 2017, Gel status: 0
Added New Source
Manju Kurian (UCL-Institute of Child Health)NDUFA10 was added to Structural basal ganglia disorderspanel. Sources: Literature