Palmoplantar keratodermasGene: SPINK5
MOI should be changed from "BOTH monoallelic and biallelic, autosomal or pseudoautosomal" to "Biallelic". There does not appear to be any evidence of monoallelic variants causing disease.
Created: 11 Oct 2021, 2:21 p.m. | Last Modified: 11 Oct 2021, 2:21 p.m.
Panel Version: 1.9
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
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: SPINK5; 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 Q4_21_MOI tag was added to gene: SPINK5.
Source London North GLH was added to SPINK5.
gene: SPINK5 was added gene: SPINK5 was added to Palmoplantar keratodermas. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: SPINK5 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: SPINK5 were set to Netherton Syndrome