Pigmentary skin disordersGene: SASH1
Possible AR form (Cancer, alopecia, pigment dyscrasia, onychodystrophy, and keratoderma, 618373), but insufficient evidence
Created: 12 Dec 2019, 12:23 p.m. | Last Modified: 12 Dec 2019, 12:23 p.m.
Panel Version: 0.25
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
DYSCHROMATOSIS UNIVERSALIS HEREDITARIA 1; DUH1
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: Green; Evidence for inclusion: none provided; Evidence for exclusion: none provided; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none provided.
Created: 31 Jan 2019, 11:31 a.m.
Mode of inheritance for gene SASH1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Added phenotypes DUH1; DYSCHROMATOSIS UNIVERSALIS HEREDITARIA 1 for gene: SASH1 Publications for gene SASH1 were changed from to 27659786
Source London North GLH was added to SASH1.
gene: SASH1 was added gene: SASH1 was added to Pigmentary skin disorders. Sources: Expert Review Green,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 Pigmentation defects, palmoplantar keratoderma, spinocellular carcinoma (homo); Dyschromatosis (het)