Inherited white matter disorders
Gene: GFM1Comment on list classification: Gene rated green and diagnostic-grade by expert reviewer, confirmed DD gene for Combined oxidative phosphorylation deficiency 1, 3 unrelated cases with 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 Combined oxidative phosphorylation deficiency 1. Green gene in the Mitochondrial panel version 1.7 and ID panel version 1.2.
Created: 16 Aug 2016, 11:14 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 GFM1 were set to Combined oxidative phosphorylation deficiency 1;Mitochondrial Leukoencephalopathy;General Leukodystrophy & Mitochondrial Leukoencephalopathy
Publications for GFM1 were set to 25655951
This gene has been classified as Green List (High Evidence).
GFM1 was added to Inherited white matter disorderspanel. Sources: Expert list
GFM1 was created by [email protected]