Structural basal ganglia disorders
Gene: NDUFA9
NDUFA9 (NADH:ubiquinone oxidoreductase subunit A9)
EnsemblGeneIds (GRCh38): ENSG00000139180
EnsemblGeneIds (GRCh37): ENSG00000139180
OMIM: 603834, Gene2Phenotype
NDUFA9 is in 11 panels
EnsemblGeneIds (GRCh38): ENSG00000139180
EnsemblGeneIds (GRCh37): ENSG00000139180
OMIM: 603834, Gene2Phenotype
NDUFA9 is in 11 panels
3 reviews
Sarah Leigh (Genomics England Curator)
Comment when marking as ready: Associated with phenotype in OMIM and as a possible G2P. Only one published case in the literature to date (1 affected) due to homozygous c.962G>C, p.R321P.Created: 6 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)
single mutation report in literatureCreated: 4 Feb 2016, 7:06 p.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Phenotypes
-
- Leigh syndrome due to mitochondrial complex I deficiency 256000
- OMIM
- 603834
- Clinvar variants
- Variants in NDUFA9
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Childhood onset dystonia, chorea or related movement disorder
- Structural basal ganglia disorders
- Likely inborn error of metabolism
- Adult onset dystonia, chorea or related movement disorder
- Mitochondrial disorders
- Possible mitochondrial disorder - nuclear genes
- DDG2P
- Paediatric or syndromic cardiomyopathy
- Intellectual disability
- Undiagnosed metabolic disorders
- Mitochondrial disorder with complex I deficiency
History Filter Activity
16 Mar 2017, Gel status: 1
panel promoted to version 1
Sarah Leigh (Genomics England Curator)promoted 16/03/2017
6 Mar 2017, Gel status: 1
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
6 Mar 2017, Gel status: 1
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
6 Mar 2017, Gel status: 0
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for NDUFA9 were set to Leigh syndrome due to mitochondrial complex I deficiency 256000
6 Mar 2017, Gel status: 0
Set publications
Sarah Leigh (Genomics England Curator)Publications for NDUFA9 were set to 22114105
1 Mar 2017, Gel status: 0
Created
Manju Kurian (UCL-Institute of Child Health)NDUFA9 was created by Manju
1 Mar 2017, Gel status: 0
Added New Source
Manju Kurian (UCL-Institute of Child Health)NDUFA9 was added to Structural basal ganglia disorderspanel. Sources: Literature