Inherited white matter disorders
Gene: ETFDHComment on list classification: Gene rated green and diagnostic-grade by expert reviewer, confirmed DD gene for GLUTARIC ACIDURIA TYPE 2C, more than 3 cases, and different variants, reported in OMIM. On the Minimum recommended gene list for broad spectrum genetic testing for single-nucleotide variants associated with leukodystrophies and genetic leukoencephalopathies reported in PMID: 25655951 for Glutaric Acidemia IIC.Created: 16 Aug 2016, 10:53 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
General Leukodystrophy & Mitochondrial Leukoencephalopathy
Publications
Variants in this GENE are reported as part of current diagnostic practice
6th Oct 2016: Panel promoted to version 1 after expert review and input, further curation and clinical input.
This gene has been classified as Green List (High Evidence).
Phenotypes for ETFDH were set to Glutaric Acidemia IIC;Mitochondrial Leukoencephalopathy
Publications for ETFDH were set to 25655951
This gene has been classified as Green List (High Evidence).
ETFDH was added to Inherited white matter disorderspanel. Sources: Expert list
ETFDH was created by [email protected]