GMS Musculoskeletal specialist test group 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: 0.32
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, 11:52 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
Tag new-gene-name tag was added to gene: ARSE.
gene: ARSE was added gene: ARSE was added to GMS Musculoskeletal specialist test group Skeletal dysplasia. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: ARSE was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: ARSE were set to CDPXL; Chondrodysplasia punctata, X-linked recessive, 302950; CHONDRODYSPLASIA PUNCTATA 1, X-LINKED; X-linked recessive chondrodysplasia punctata