Inborn errors of metabolismGene: ETFDH
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Rhabdomyolysis and metabolic muscle disorders
Comment on list classification: Promoted from red to green as a green review and it is a confirmed DD gene in G2P for Glutaric aciduria type 2C.
Created: 2 Mar 2016, 11:50 a.m.
Source NHS GMS was added to ETFDH. Source London North GLH was added to ETFDH.
Checked against super panel made up of the panel constituents. Ready to promote to version 1.
Added phenotypes GLUTARIC ACIDURIA TYPE 2C; Glutaric acidemia IIC; Disorders of ubiquinone metabolism and biosynthesis for gene: ETFDH
gene: ETFDH was added gene: ETFDH was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: ETFDH was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ETFDH were set to 27604308; 24816252 Phenotypes for gene: ETFDH were set to Secondary CoQ10 deficiency (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Disorders of ubiquinone metabolism and biosynthesis; GLUTARIC ACIDURIA TYPE 2C; Glutaric acidemia IIC; ETF-ubiquinone oxidoreductase deficiency (Disorders of mitochondrial fatty acid oxidation)