Mitochondrial disorder with complex I deficiency
Gene: NDUFA1
Initial gene list and info collated by Carl Fratter (Oxford University Hospitals NHS Trust) January 2019 on behalf of the GMS Mitochondrial specialist test group. Gene Symbol submitted: NDUFA1; Suggested intial gene rating: Green; Information provided: Mode of inheritance and phenotype.Created: 1 Feb 2019, 4:29 p.m.
Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
Mitochondrial complex I deficiency, nuclear type 12, 301020
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.
gene: NDUFA1 was added gene: NDUFA1 was added to Mitochondrial disorder with complex I deficiency. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: NDUFA1 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Phenotypes for gene: NDUFA1 were set to Mitochondrial complex I deficiency, nuclear type 12, 301020