Limb disorders
Gene: ARSEAdded new-gene-name tag, new approved HGNC gene symbol for ARSE is ARSLCreated: 6 Sep 2019, 4:03 p.m. | Last Modified: 6 Sep 2019, 4:03 p.m.
Panel Version: 1.58
Comment on phenotypes: Chondrodysplasia punctata, X-linked recessive 302950Created: 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.
Tier 1Created: 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
Tag new-gene-name tag was added to gene: ARSE.
Ana Beleza: Tier 1
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
London South East RGC GSTT was added to ARSE. Panel: Limb disorders
ARSE was added to Limb disorders panel. Sources: Viapath
ARSE was created by Ellen McDonagh