Peroxisomal disorders

Gene: ARSE

Green List (high evidence)

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

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.

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

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

Promoted to V1 3rd October 2016

23 Aug 2016, Gel status: 4

Upload gene information

Sarah Leigh (Genomics England Curator)

ARSE was added to Peroxisomal disorderspanel. Sources: Radboud University Medical Center, Nijmegen

23 Aug 2016, Gel status: 3

Upload gene information

Sarah Leigh (Genomics England Curator)

ARSE was added to Peroxisomal disorderspanel. Sources: Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services,UKGTN

23 Aug 2016, Gel status: 1

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for ARSE were set to Chondrodysplasia punctata, X-linked recessive 302950

23 Aug 2016, Gel status: 1

Set Mode of Inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for ARSE was changed to X-LINKED: hemizygous mutation in males, biallelic mutations in females

19 Aug 2016, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

ARSE was added to Peroxisomal disorderspanel. Sources: UKGTN

19 Aug 2016, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

ARSE was created by sleigh