Dystonia - childhood onset
Gene: NDUFA1EnsemblGeneIds (GRCh38): ENSG00000125356
EnsemblGeneIds (GRCh37): ENSG00000125356
OMIM: 300078, Gene2Phenotype
NDUFA1 is in 14 panels
1 review
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. 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: 1 Apr 2019, 3:31 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
- None
- Publications
- Panels with this gene
-
- Possible mitochondrial disorder - nuclear genes
- Adult onset dystonia, chorea or related movement disorder
- Undiagnosed metabolic disorders
- Intellectual disability
- DDG2P
- Optic neuropathy
- Mitochondrial disorder with complex I deficiency
- Early onset or syndromic epilepsy
- Mitochondrial disorders
- Fetal anomalies
- Structural basal ganglia disorders
- Paediatric or syndromic cardiomyopathy
- Likely inborn error of metabolism
- Childhood onset dystonia, chorea or related movement disorder
History Filter Activity
Set publications
Ellen McDonagh (Genomics England Curator)Publications for gene: NDUFA1 were set to 28247337; 17262856; 19185523; 21596602
Set publications
Ellen McDonagh (Genomics England Curator)Publications for gene: NDUFA1 were set to 28247337; 17262856
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 1.0
Louise Daugherty (Genomics England Curator)Checked against super panel made up of the panel constituents. Ready to promote to version 1
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Eleanor Williams (Genomics England Curator)gene: NDUFA1 was added gene: NDUFA1 was added to Dystonia - childhood onset. Sources: Expert Review Green Mode of inheritance for gene: NDUFA1 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Publications for gene: NDUFA1 were set to 28247337; 17262856 Phenotypes for gene: NDUFA1 were set to Mitochondrial complex I deficiency 252010