Mitochondrial disorders
Gene: NDUFA1
Comment on mode of inheritance: Changed from 'Both monoallelic and biallelic' to X-linked, as encoded on the X-chromosome.Created: 1 Apr 2019, 3:38 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.
Publications for gene: NDUFA1 were set to
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)
Victorian Clinical Genetics Services was added to NDUFA1. Panel: Mitochondrial disorders
This gene has been classified as Green List (High Evidence).
Phenotypes for NDUFA1 were set to Isolated complex I deficiency; Mitochondrial complex I deficiency, 252010; Mitochondrial Diseases
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 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
This gene has been classified as Green List (High Evidence).
NDUFA1 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Expert list,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory
NDUFA1 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Expert list,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory
NDUFA1 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Expert list,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory
NDUFA1 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Expert list,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory