Chondrodysplasia punctata
Gene: ARSEAdded new-gene-name tag, new approved HGNC gene symbol for ARSE is ARSLCreated: 6 Sep 2019, 4:02 p.m. | Last Modified: 6 Sep 2019, 4:02 p.m.
Panel Version: 1.2
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Variants in this GENE are reported as part of current diagnostic practice
Comment on mode of inheritance: Confirmed in G2P (hemizygous) and OMIM (XLR).Created: 29 Feb 2016, 5:32 p.m.
Comment on list classification: Promoted from amber to green due to green review, and it is a confirmed DD gene for this disorder.Created: 29 Feb 2016, 5:31 p.m.
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
X-linked recessive chondrodysplasia punctata
Tag new-gene-name tag was added to gene: ARSE.
This gene has been classified as Green List (High Evidence).
Phenotypes for ARSE were set to Chondrodysplasia punctata, X-linked recessive, 302950; X-linked recessive chondrodysplasia punctata; CHONDRODYSPLASIA PUNCTATA 1, X-LINKED
Phenotypes for ARSE were set to Chondrodysplasia punctata, X-linked recessive, 302950; X-linked recessive chondrodysplasia punctata
Mode of inheritance for ARSE was changed to X-LINKED: hemizygous mutation in males, biallelic mutations in females
This gene has been classified as Green List (High Evidence).
ARSE was added to Chondrodysplasia punctatapanel. Sources: Radboud University Medical Center, Nijmegen
ARSE was added to Chondrodysplasia punctatapanel. Sources: UKGTN