Skeletal dysplasia
Gene: ARSEAdded new-gene-name tag, new approved HGNC gene symbol for ARSE is ARSLCreated: 6 Sep 2019, 4:05 p.m. | Last Modified: 6 Sep 2019, 4:05 p.m.
Panel Version: 1.193
Skeletal defects include hypoplasia of the distal phalanges and chondrodysplasia punctata. Listed in Chondrodysplasia punctata gp of SD. XLR. Variants reported in >3 cases.; Review on behalf of Tracy LesterCreated: 6 Mar 2019, 11:44 a.m.
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
CDPXL; Chondrodysplasia punctata, X-linked recessive, 302950; X-linked recessive chondrodysplasia punctata; CHONDRODYSPLASIA PUNCTATA 1, X-LINKED
This gene was part of an initial gene list collated by Tracy Lester, Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, February 2019 on behalf of the GMS Musculoskeletal Specialist Group; Gene symbol submitted: ARSE; Initial rating suggestion: green if SDCreated: 6 Mar 2019, 11:36 a.m.
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.
Added phenotypes CDPXL; Chondrodysplasia punctata, X-linked recessive, 302950; CHONDRODYSPLASIA PUNCTATA 1, X-LINKED; X-linked recessive chondrodysplasia punctata for gene: ARSE
Source NHS GMS was added to ARSE. Rating Changed from Green List (high evidence) to Green List (high evidence)
Promoted to version 1 9th August 2016
Phenotypes for ARSE were set to CDPXL; Chondrodysplasia punctata, X-linked recessive, 302950; X-linked recessive chondrodysplasia punctata; CHONDRODYSPLASIA PUNCTATA 1, X-LINKED
This gene has been classified as Green List (High Evidence).
ARSE was added to Unexplained skeletal dysplasiapanel. Source: UKGTN ARSE was added to Unexplained skeletal dysplasiapanel. Source: Radboud University Medical Center, Nijmegen ARSE was added to Unexplained skeletal dysplasiapanel. Source: Expert Review Green Model of inheritance for gene ARSE was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
ARSE was added to Unexplained skeletal dysplasiapanel. Sources:
ARSE was created by sleigh