Palmoplantar keratodermasGene: ARSE
Cannot find association with PPK. Some patients present with ichthyosis but only with larger chromosomal deletions that also delete adjacent genes (e.g. STS)
Created: 19 Aug 2020, 6:34 a.m. | Last Modified: 19 Aug 2020, 6:34 a.m.
Panel Version: 1.3
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Chondrodysplasia punctata, X-linked recessive, MIM# 302950
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: 0.8
This gene was part of an initial gene list collated by Thomas Cullup, GOSH and Veronica Kinsler, UCL, 25.Jan.2019 on behalf of the GMS Skin Specialist Test Group. Gene Symbol submitted: ARSE; Suggested initial gene rating: Green; Evidence for inclusion: none provided; Evidence for exclusion: none provided; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none provided.
Created: 28 Jan 2019, 10:47 a.m.
Variants in this GENE are reported as part of current diagnostic practice
Tag new-gene-name tag was added to gene: ARSE.
Source London North GLH was added to ARSE.
gene: ARSE was added gene: ARSE was added to Palmoplantar keratodermas. Sources: Expert Review Green,NHS GMS 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 Chondrodysplasia punctata