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Limb 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 13 panels

2 reviews

Sarah Leigh (Genomics England Curator)

Comment on phenotypes: Chondrodysplasia punctata, X-linked recessive 302950
Created: 13 Jul 2016, 7:38 a.m.
Comment when marking as ready: Associated with phenotype in G2P. Numerous variants reported in this phenotype.
Created: 13 Jul 2016, 7:38 a.m.

Ana Beleza (Bristol Regional Genetics Service)

Green List (high evidence)

Tier 1
Created: 17 Jun 2016, 8:01 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Chondrodysplasia punctata, X-linked recessive 302950

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

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Expert Review Green
  • London South East RGC GSTT
  • Viapath
Phenotypes
  • CDPXL
  • Chondrodysplasia punctata, X-linked recessive, 302950
  • X-linked recessive chondrodysplasia punctata
  • CHONDRODYSPLASIA PUNCTATA 1, X-LINKED
OMIM
300180
Clinvar variants
Variants in ARSE
Penetrance
None
Panels with this gene

History Filter Activity

11 Dec 2018, Gel status: 4

Panel promoted to version 1.0

Eleanor Williams (Genomics England Curator)

Ana Beleza: Tier 1

5 Apr 2018, Gel status: 4

Added New Source, Added New Source, Added New Source, Set mode of inheritance

Ellen McDonagh (Genomics England Curator)

Expert Review Green was added to ARSE. Panel: Limb disorders Radboud University Medical Center, Nijmegen was added to ARSE. Panel: Limb disorders UKGTN was added to ARSE. Panel: Limb disorders Model of inheritance for gene ARSE was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females

27 Nov 2017, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

London South East RGC GSTT was added to ARSE. Panel: Limb disorders

17 Nov 2017, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

ARSE was added to Limb disorders panel. Sources: Viapath

17 Nov 2017, Gel status: 1

Created

Ellen McDonagh (Genomics England Curator)

ARSE was created by Ellen McDonagh