Palmoplantar keratoderma and erythrokeratodermas

Gene: SASH1

Red List (low evidence)

SASH1 (SAM and SH3 domain containing 1)
EnsemblGeneIds (GRCh38): ENSG00000111961
EnsemblGeneIds (GRCh37): ENSG00000111961
OMIM: 607955, Gene2Phenotype
SASH1 is in 6 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.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
  • Literature
Phenotypes
  • Pigmentation defects, palmoplantar keratoderma and skin carcinoma
OMIM
607955
Clinvar variants
Variants in SASH1
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

11 Apr 2017, Gel status: 1

panel promoted to version 1

Rebecca Foulger (Genomics England curator)

Promoted to Version 1, April 11th 2017: Reviews were assessed, and panel was revised according to expert review and additional curation.

23 Mar 2017, Gel status: 1

Gene classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

This gene has been classified as Red List (Low Evidence).

23 Mar 2017, Gel status: 1

Gene classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

This gene has been classified as Red List (Low Evidence).

5 Jan 2017, Gel status: 1

Added New Source

Rebecca Foulger (Genomics England curator)

SASH1 was added to Palmoplantar keratoderma and erythrokeratodermaspanel. Source: Radboud University Medical Center, Nijmegen

5 Jan 2017, Gel status: 0

Created

Rebecca Foulger (Genomics England curator)

SASH1 was created by rfoulger

5 Jan 2017, Gel status: 0

Added New Source

Rebecca Foulger (Genomics England curator)

SASH1 was added to Palmoplantar keratoderma and erythrokeratodermaspanel. Sources: Literature