Newborns main panel
Gene: ARSA

ARSA (arylsulfatase A)
EnsemblGeneIds (GRCh38): ENSG00000100299
EnsemblGeneIds (GRCh37): ENSG00000100299
OMIM: 607574, Gene2Phenotype
ARSA is in 20 panels

2 reviews

Arina Puzriakova (Genomics England Curator)

Special Consideration: Newborns Variant Discussion (NVD) recommended.

Additional Information: Concern about identifying those predicted to have late-onset phenotypes, who would not meet eligibility criteria for Libmeldy (but may be eligible for HSCT). Consider NVD if uncertain whether to report variant(s).
Created: 25 Sep 2024, 3:11 p.m. | Last Modified: 25 Sep 2024, 3:11 p.m.

Panel Version: 0.469

Created: 25 Sep 2024, 3:11 p.m.
Last Modified: 25 Sep 2024, 3:11 p.m.
Panel version: 0.469

Mafalda Gomes (Genomics England Curator)

The mechanism of pathogenicity is loss-of-function (LOF).
Created: 1 Jun 2023, 2:40 p.m. | Last Modified: 1 Jun 2023, 2:40 p.m.

Panel Version: 0.137

Mutation Update of ARSA and PSAP Genes Causing Metachromatic Leukodystrophy - PubMed (nih.gov)
Created: 1 Jun 2023, 12:22 p.m. | Last Modified: 1 Jun 2023, 12:22 p.m.

Panel Version: 0.134

Created: 1 Jun 2023, 12:22 p.m.
Last Modified: 1 Jun 2023, 12:22 p.m.
Panel version: 0.137

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green

Phenotypes

Metachromatic leukodystrophy

Tags

special_consideration

OMIM

607574

Clinvar variants

Variants in ARSA

Penetrance

None

Panels with this gene

History Filter Activity

25 Sep 2024, Gel status: 3

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag special_consideration tag was added to gene: ARSA.

14 Sep 2023, Gel status: 3