Peroxisomal disorders
Gene: ARSE

ARSE (arylsulfatase E (chondrodysplasia punctata 1))
EnsemblGeneIds (GRCh38): ENSG00000157399
EnsemblGeneIds (GRCh37): ENSG00000157399
OMIM: 300180, Gene2Phenotype
ARSE is in 12 panels

2 reviews

Louise Daugherty (Genomics England Curator)

Added new-gene-name tag, new approved HGNC gene symbol for ARSE is ARSL
Created: 6 Sep 2019, 4:02 p.m. | Last Modified: 6 Sep 2019, 4:02 p.m.

Panel Version: 1.6

Created: 6 Sep 2019, 4:02 p.m.
Last Modified: 6 Sep 2019, 4:02 p.m.
Panel version: 1.6

Sarah Leigh (Genomics England Curator)

Associated with phenotype in OMIM and G2P. At least eight variants reported in Chondrodysplasia punctata, X-linked recessive 302950
Created: 23 Aug 2016, 9:18 a.m.

Created: 23 Aug 2016, 9:18 a.m.

Panel version: 0.70

Details

Mode of Inheritance

X-LINKED: hemizygous mutation in males, biallelic mutations in females

Sources

Radboud University Medical Center, Nijmegen
Emory Genetics Laboratory
Illumina TruGenome Clinical Sequencing Services
UKGTN

Phenotypes

Chondrodysplasia punctata, X-linked recessive 302950

Tags

new-gene-name

OMIM

300180

Clinvar variants

Variants in ARSE

Penetrance

Complete

Panels with this gene

History Filter Activity

6 Sep 2019, Gel status: 3

Added Tag

Louise Daugherty (Genomics England Curator)

Tag new-gene-name tag was added to gene: ARSE.

3 Oct 2016, Gel status: 4