Ichthyosis and erythrokeratoderma
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
gene: SASH1 was added gene: SASH1 was added to Ichthyosis and erythrokeratoderma. Sources: Expert Review Red Mode of inheritance for gene: SASH1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SASH1 were set to 25315659 Phenotypes for gene: SASH1 were set to Pigmentation defects, palmoplantar keratoderma and skin carcinoma