This Panel is marked as Internal
Test MOI validation panel - do not edit
Gene: NDUFA1
NDUFA1 (NADH:ubiquinone oxidoreductase subunit A1)
EnsemblGeneIds (GRCh38): ENSG00000125356
EnsemblGeneIds (GRCh37): ENSG00000125356
OMIM: 300078, Gene2Phenotype
NDUFA1 is in 14 panels
EnsemblGeneIds (GRCh38): ENSG00000125356
EnsemblGeneIds (GRCh37): ENSG00000125356
OMIM: 300078, Gene2Phenotype
NDUFA1 is in 14 panels
0 reviews
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
- Literature
- Phenotypes
-
- OMIM test - MOI is X-linked monoallelic, but OMIM has XLR
- OMIM
- 300078
- Clinvar variants
- Variants in NDUFA1
- Penetrance
- None
- Panels with this gene
-
- Optic neuropathy
- Mitochondrial disorder with complex I deficiency
- Childhood onset dystonia, chorea or related movement disorder
- Mitochondrial disorders
- Structural basal ganglia disorders
- Paediatric or syndromic cardiomyopathy
- Likely inborn error of metabolism
- Intellectual disability
- Possible mitochondrial disorder - nuclear genes
- Early onset or syndromic epilepsy
- Adult onset dystonia, chorea or related movement disorder
- Undiagnosed metabolic disorders
- Fetal anomalies
- DDG2P
History Filter Activity
20 Oct 2020, Gel status: 3
Entity classified by Genomics England curator
Eleanor Williams (Genomics England Curator)Gene: ndufa1 has been classified as Green List (High Evidence).
20 Oct 2020, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Eleanor Williams (Genomics England Curator)gene: NDUFA1 was added gene: NDUFA1 was added to TEST mode of inheritance validation panel. Sources: Literature Mode of inheritance for gene: NDUFA1 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Phenotypes for gene: NDUFA1 were set to OMIM test - MOI is X-linked monoallelic, but OMIM has XLR