Palmoplantar keratoderma and erythrokeratodermas
Gene: SASH1

SASH1 (SAM and SH3 domain containing 1)
EnsemblGeneIds (GRCh38): ENSG00000111961
EnsemblGeneIds (GRCh37): ENSG00000111961
OMIM: 607955, Gene2Phenotype
SASH1 is in 5 panels

1 review

Rebecca Foulger (Genomics England curator)

Comment 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.

Created: 5 Jan 2017, 1:22 p.m.

Panel version: 0.13

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Red
Radboud University Medical Center, Nijmegen
Literature

Phenotypes

?Cancer, alopecia, pigment dyscrasia, onychodystrophy, and keratoderma, OMIM:618373

OMIM

607955

Clinvar variants

Variants in SASH1

Penetrance

Complete

Publications

25315659

Panels with this gene

History Filter Activity

7 Nov 2023, Gel status: 1

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: SASH1 were changed from Pigmentation defects, palmoplantar keratoderma and skin carcinoma to ?Cancer, alopecia, pigment dyscrasia, onychodystrophy, and keratoderma, OMIM:618373

11 Apr 2017, Gel status: 1