Inherited white matter disorders
Gene: FUCA1Comment on list classification: Gene rated green and diagnostic-grade by expert reviewer, confirmed DD gene for Fucosidosis, multiple 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 Fucosidosis.
Created: 16 Aug 2016, 10:59 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 FUCA1 were set to Fucosidosis;General Leukodystrophy & Mitochondrial Leukoencephalopathy
Publications for FUCA1 were set to 25655951
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
FUCA1 was created by [email protected]
FUCA1 was added to Inherited white matter disorderspanel. Sources: Expert list