Multiple monogenic benign skin tumours
Gene: SASH1
This gene was demoted from Red to Grey as the gene is not present on the shorter revised list subsequently submitted by Thomas Cullup and Veronica Kinsler (London North GLH) on 18.Feb.2019 to more accurately match Clinical Indication R230.Created: 19 Feb 2019, 7:43 p.m.
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: SASH1; Suggested initial gene rating: Red; Evidence for inclusion: none provided; Evidence for exclusion: none provided; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none provided.Created: 29 Jan 2019, 10:38 a.m.
Tag curated_removed tag was added to gene: SASH1.
Source Expert Review Removed was added to SASH1. Rating Changed from Red List (low evidence) to No List (delete)
Source London North GLH was added to SASH1.
gene: SASH1 was added gene: SASH1 was added to Multiple monogenic benign skin tumours. Sources: Expert Review Red,NHS GMS Mode of inheritance for gene: SASH1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: SASH1 were set to Dyschromatosis (het); Pigmentation defects, palmoplantar keratoderma, spinocellular carcinoma (homo)