Dystonia - childhood onset
Gene: NDUFA1Comment 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.
Publications for gene: NDUFA1 were set to 28247337; 17262856; 19185523; 21596602
Publications for gene: NDUFA1 were set to 28247337; 17262856
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)
Checked against super panel made up of the panel constituents. Ready to promote to version 1
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