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Chondrodysplasia punctata

Gene: ARSE

Green List (high evidence)

ARSE (arylsulfatase E (chondrodysplasia punctata 1))
EnsemblGeneIds (GRCh38): ENSG00000157399
EnsemblGeneIds (GRCh37): ENSG00000157399
OMIM: 300180, Gene2Phenotype
ARSE is in 14 panels

4 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: 1.2

Sian Ellard (University of Exeter Medical School)

Green List (high evidence)

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

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

Ellen McDonagh (Genomics England Curator)

Comment on mode of inheritance: Confirmed in G2P (hemizygous) and OMIM (XLR).
Created: 29 Feb 2016, 5:32 p.m.
Comment on list classification: Promoted from amber to green due to green review, and it is a confirmed DD gene for this disorder.
Created: 29 Feb 2016, 5:31 p.m.

Helen Savage (Congenica Ltd)

Green List (high evidence)

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

Phenotypes
X-linked recessive chondrodysplasia punctata

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Chondrodysplasia punctata, X-linked recessive, 302950
  • X-linked recessive chondrodysplasia punctata
  • CHONDRODYSPLASIA PUNCTATA 1, X-LINKED
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.

29 Feb 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

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

29 Feb 2016, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for ARSE were set to Chondrodysplasia punctata, X-linked recessive, 302950; X-linked recessive chondrodysplasia punctata; CHONDRODYSPLASIA PUNCTATA 1, X-LINKED

29 Feb 2016, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

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

29 Feb 2016, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

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

29 Feb 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

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

6 May 2015, Gel status: 2

Added New Source

Eik Haraldsdottir (Genomics England)

ARSE was added to Chondrodysplasia punctatapanel. Sources: Radboud University Medical Center, Nijmegen

6 May 2015, Gel status: 1

Added New Source

Eik Haraldsdottir (Genomics England)

ARSE was added to Chondrodysplasia punctatapanel. Sources: UKGTN