Inherited white matter disorders
Gene: ARSA
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, 3:01 p.m.
Comment on list classification: Provisionally accepted by UKGTN for Combined leukodystrophy/mitochondrial leukoencephalopathy 94-gene panel (Ian Berry)Created: 6 Jul 2016, 2:58 p.m.
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 ARSA were set to Metachromatic leukodystrophy (Arylsulfatase A Deficiency) 250100
Publications for ARSA were set to 25655951; 2574462; 1670590
This gene has been classified as Green List (High Evidence).
ARSA was added to Inherited white matter disorderspanel. Sources: Illumina TruGenome Clinical Sequencing Services,Expert list
ARSA was added to Inherited white matter disorderspanel. Source: UKGTN
ARSA was added to Inherited white matter disorderspanel. Source: Emory Genetics Laboratory Model of inheritance for gene ARSA was set to BIALLELIC, autosomal or pseudoautosomal
ARSA was created by ellenmcdonagh
ARSA was added to Inherited white matter disorderspanel. Sources: Radboud University Medical Center, Nijmegen