Inherited white matter disorders
Gene: HSD17B4Comment on list classification: Gene rated green and diagnostic-grade by expert reviewer, confirmed DD gene for D-bifunctional protein deficiency, and more than 3 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 D-bifunctional protein deficiency. Green gene in the ID panel version 1.2.Created: 16 Aug 2016, 11:27 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 HSD17B4 were set to Peroxisome-Associated Disorders & Zellweger Syndrome;D-bifunctional protein deficiency;General Leukodystrophy & Mitochondrial Leukoencephalopathy
Publications for HSD17B4 were set to 25655951
This gene has been classified as Green List (High Evidence).
HSD17B4 was created by [email protected]
HSD17B4 was added to Inherited white matter disorderspanel. Sources: Expert list