Structural basal ganglia disordersGene: NDUFA1
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 DDG
Created: 2 Mar 2017, 1:59 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
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.
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)
Publications for NDUFA1 were set to 17262856; 28247337
This gene has been classified as Green List (High Evidence).
Mode of inheritance for NDUFA1 was changed to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Mode of inheritance for NDUFA1 was changed to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for NDUFA1 were set to Mitochondrial complex I deficiency 252010
Publications for NDUFA1 were set to 17262856
NDUFA1 was added to Structural basal ganglia disorderspanel. Sources: Literature
NDUFA1 was created by Manju