Inherited white matter disorders

Gene: ARSA

Green List (high evidence)

ARSA (arylsulfatase A)
EnsemblGeneIds (GRCh38): ENSG00000100299
EnsemblGeneIds (GRCh37): ENSG00000100299
OMIM: 607574, Gene2Phenotype
ARSA is in 19 panels

2 reviews

Ian Berry (Leeds Genetics Laboratory)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
General Leukodystrophy & Mitochondrial Leukoencephalopathy

Publications

  • Parikh et al. Molecular Genetics and Metabolism 114 (2015) 501_631

Variants in this GENE are reported as part of current diagnostic practice

Sarah Leigh (Genomics England Curator)

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.

History Filter Activity

6 Oct 2016, Gel status: 4

panel promoted to version 1

Ellen McDonagh (Genomics England Curator)

6th Oct 2016: Panel promoted to version 1 after expert review and input, further curation and clinical input.

6 Jul 2016, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

6 Jul 2016, Gel status: 4

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for ARSA were set to Metachromatic leukodystrophy (Arylsulfatase A Deficiency) 250100

6 Jul 2016, Gel status: 4

Set publications

Sarah Leigh (Genomics England Curator)

Publications for ARSA were set to 25655951; 2574462; 1670590

6 Jul 2016, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

6 Jul 2016, Gel status: 4

Upload gene information

Sarah Leigh (Genomics England Curator)

ARSA was added to Inherited white matter disorderspanel. Sources: Illumina TruGenome Clinical Sequencing Services,Expert list

19 May 2016, Gel status: 3

Added New Source

Ellen McDonagh (Genomics England Curator)

ARSA was added to Inherited white matter disorderspanel. Source: UKGTN

19 May 2016, Gel status: 2

Set Mode of Inheritance, Added New Source

Ellen McDonagh (Genomics England Curator)

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

19 May 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

ARSA was created by ellenmcdonagh

19 May 2016, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

ARSA was added to Inherited white matter disorderspanel. Sources: Radboud University Medical Center, Nijmegen