Palmoplantar keratoderma and erythrokeratodermas
Gene: SASH1Comment when marking as ready: Insufficient evidence to support causation.Created: 23 Mar 2017, 11:24 a.m.
Comment on list classification: Kept rating as Red: currently insufficient evidence to support causation.Created: 23 Mar 2017, 11:14 a.m.
PMID:25315659 (Courcet et al., 2015) present a consanguineous Moroccan family with two affected siblings presenting an unclassified phenotype associating an abnormal pigmentation pattern, alopecia, palmoplantar keratoderma, ungueal dystrophy and recurrent spinocellular carcinoma. They identified a homozygous variant in SASH1 (c.1849G>A; p.Glu617Lys) in both affected individuals.Created: 5 Jan 2017, 1:22 p.m.
Phenotypes for gene: SASH1 were changed from Pigmentation defects, palmoplantar keratoderma and skin carcinoma to ?Cancer, alopecia, pigment dyscrasia, onychodystrophy, and keratoderma, OMIM:618373
Promoted to Version 1, April 11th 2017: Reviews were assessed, and panel was revised according to expert review and additional curation.
This gene has been classified as Red List (Low Evidence).
This gene has been classified as Red List (Low Evidence).
SASH1 was added to Palmoplantar keratoderma and erythrokeratodermaspanel. Source: Radboud University Medical Center, Nijmegen
SASH1 was created by rfoulger
SASH1 was added to Palmoplantar keratoderma and erythrokeratodermaspanel. Sources: Literature