Palmoplantar keratodermas
Gene: CASP14
One CASP14 variant has been associated with Ichthyosis, congenital, autosomal recessive 12 (OMIM:617320), in two families sharing a haplotype. Palmoplantar keratodermas is not a feature of OMIM:617320Created: 26 Feb 2024, 1:04 p.m. | Last Modified: 26 Feb 2024, 1:04 p.m.
Panel Version: 3.24
2 apparently unrelated Algerian families with the same variant and same haplotype reported, so gene-disease association is already not well-established. Patients had ichthyosis but not PPK. PPK is specifically reported NOT present in one patient.Created: 19 Aug 2020, 6:31 a.m. | Last Modified: 19 Aug 2020, 6:31 a.m.
Panel Version: 1.3
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ichthyosis
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: CASP14; 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.
Tag Q1_24_demote_red tag was added to gene: CASP14. Tag Q1_24_expert_review tag was added to gene: CASP14.
Source London North GLH was added to CASP14.
gene: CASP14 was added gene: CASP14 was added to Palmoplantar keratodermas. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: CASP14 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CASP14 were set to Ichthyosis, congenital, autosomal recessive 12; 617320