Possible mitochondrial disorder - nuclear genesGene: ETFDH
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.
Created: 4 Feb 2019, 1:36 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Glutaric acidemia IIC, 231680
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.
gene: ETFDH was added gene: ETFDH was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: ETFDH was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ETFDH were set to Glutaric acidemia IIC, 231680