Cardiomyopathies - including childhood onsetGene: NDUFAF2
Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Green on this panel.
Created: 2 Dec 2019, 3:58 p.m. | Last Modified: 2 Dec 2019, 3:58 p.m.
Panel Version: 0.16
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: NDUFAF2; Suggested intial gene rating: Green; Information provided: Mode of inheritance and phenotype.
Created: 1 Feb 2019, 4:29 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Mitochondrial complex I deficiency, nuclear type 10, 618233
Comment on mode of inheritance: Confirmed on G2P and OMIM.
Created: 8 Feb 2016, 2:41 p.m.
Comment on list classification: Expert reviewer suggests the gene should be promoted to green, and it is a probable DD gene for Leigh syndrome.
Created: 8 Feb 2016, 2:39 p.m.
gene: NDUFAF2 was added gene: NDUFAF2 was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,MetBioNet Mode of inheritance for gene: NDUFAF2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NDUFAF2 were set to Mitochondrial complex I deficiency, nuclear type 10, 618233