Structural basal ganglia disorders
Gene: NDUFA1EnsemblGeneIds (GRCh38): ENSG00000125356
EnsemblGeneIds (GRCh37): ENSG00000125356
OMIM: 300078, Gene2Phenotype
NDUFA1 is in 14 panels
4 reviews
Shamima Rahman (UCL Institute of Child Health)
Sarah Leigh (Genomics England Curator)
Additional case reported with homozygous variant PMID 28247337. Text is not yet available and so do not know if this the same variant as previously reported or a novel one.Created: 2 Mar 2017, 2:41 p.m.
Comment on mode of inheritance: Listed as hemizygous in DDGCreated: 2 Mar 2017, 1:59 p.m.
Manju Kurian (UCL-Institute of Child Health)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Ellen McDonagh (Genomics England Curator)
Comment on mode of inheritance: Changed from 'Both monoallelic and biallelic' to X-linked, as encoded on the X-chromosome.Created: 1 Apr 2019, 3:28 p.m.
Comment on mode of inheritance: Multiple studies were the heterozygous mother of the affected male proband was unaffected [PMID: 17262856; 19185523]. One study reports a female with a heterozygous variant who developed a very mild form of complex I deficiency due to skewed X inactivation [PMID: 21596602].Created: 8 Feb 2016, 2:23 p.m.
Comment on list classification: Expert review suggests this should be promoted from amber.Created: 8 Feb 2016, 2:13 p.m.
Details
- Mode of Inheritance
- X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
- Sources
-
- Expert Review Green
- Phenotypes
-
- Mitochondrial complex I deficiency 252010
- OMIM
- 300078
- Clinvar variants
- Variants in NDUFA1
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Early onset or syndromic epilepsy
- Adult onset dystonia, chorea or related movement disorder
- Childhood onset dystonia, chorea or related movement disorder
- Optic neuropathy
- DDG2P
- Likely inborn error of metabolism
- Possible mitochondrial disorder - nuclear genes
- Mitochondrial disorder with complex I deficiency
- Paediatric or syndromic cardiomyopathy
- Fetal anomalies
- Structural basal ganglia disorders
- Undiagnosed metabolic disorders
- Mitochondrial disorders
- Intellectual disability
History Filter Activity
Set mode of inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for gene: NDUFA1 was changed from BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
panel promoted to version 1
Sarah Leigh (Genomics England Curator)promoted 16/03/2017
Set publications
Sarah Leigh (Genomics England Curator)Publications for NDUFA1 were set to 17262856; 28247337
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Mode of Inheritance
Sarah Leigh (Genomics England Curator)Mode of inheritance for NDUFA1 was changed to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Set Mode of Inheritance
Sarah Leigh (Genomics England Curator)Mode of inheritance for NDUFA1 was changed to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for NDUFA1 were set to Mitochondrial complex I deficiency 252010
Set publications
Sarah Leigh (Genomics England Curator)Publications for NDUFA1 were set to 17262856
Added New Source
Manju Kurian (UCL-Institute of Child Health)NDUFA1 was added to Structural basal ganglia disorderspanel. Sources: Literature
Created
Manju Kurian (UCL-Institute of Child Health)NDUFA1 was created by Manju