Inherited white matter disorders
Gene: GALC
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
Comment when marking as ready: Associated with phenotype in G2P. Numerous variants reported in this phenotype.Created: 6 Jul 2016, 2:40 p.m.
Comment on list classification: Provisionally accepted by UKGTN for Combined leukodystrophy/mitochondrial leukoencephalopathy 94-gene panel (Ian Berry)Created: 6 Jul 2016, 2:36 p.m.
Phenotypes for gene: GALC were changed from Krabbe disease 245200 to Krabbe disease, OMIM:245200
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 GALC were set to Krabbe disease 245200
Publications for GALC were set to 8786069; 25655951; 20886637
Mode of inheritance for GALC was changed to BIALLELIC, autosomal or pseudoautosomal
This gene has been classified as Green List (High Evidence).
GALC was added to Inherited white matter disorderspanel. Sources: Emory Genetics Laboratory,Expert list,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen
GALC was added to Inherited white matter disorderspanel. Sources: UKGTN
GALC was created by ellenmcdonagh