Inborn errors of metabolismGene: NDUFA1
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, 3:34 p.m.
Publications for gene: NDUFA1 were set to 27604308
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)
Source NHS GMS was added to NDUFA1. Source London North GLH was added to NDUFA1.
Ellen McDonagh: Comment on mode of pathogenici
Added phenotypes Mitochondrial complex I deficiency, 252010; Mitochondrial Diseases; Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits); Isolated complex I deficiency for gene: NDUFA1 Publications for gene NDUFA1 were changed from to 27604308
gene: NDUFA1 was added gene: NDUFA1 was added to Inborn errors of metabolism. 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 Phenotypes for gene: NDUFA1 were set to Mitochondrial complex I deficiency, 252010; Mitochondrial Diseases; Isolated complex I deficiency