Skeletal dysplasia

Gene: ARSE

Added new-gene-name tag, new approved HGNC gene symbol for ARSE is ARSL

Created: 6 Sep 2019, 4:05 p.m. | Last Modified: 6 Sep 2019, 4:05 p.m.

Panel Version: 1.193

Green List (high evidence)

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 Lester

Created: 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

I don't know

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 SD

Created: 6 Mar 2019, 11:36 a.m.

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.

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