Palmoplantar keratodermas
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)

Red List (low evidence)

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: Red; Evidence for inclusion: none provided; Evidence for exclusion: none provided; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none provided.
Created: 28 Jan 2019, 10:47 a.m.

Variants in this GENE are reported as part of current diagnostic practice

Created: 28 Jan 2019, 10:47 a.m.

Panel version: 0.4

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

London North GLH
NHS GMS
Expert Review Red

Phenotypes

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

OMIM

607955

Clinvar variants

Variants in SASH1

Penetrance

None

Panels with this gene

History Filter Activity

7 Nov 2023, Gel status: 1

Set mode of inheritance

Arina Puzriakova (Genomics England Curator)

Mode of inheritance for gene: SASH1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal

7 Nov 2023, Gel status: 1

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: SASH1 were changed from Dyschromatosis (het); Pigmentation defects, palmoplantar keratoderma, spinocellular carcinoma (homo) to ?Cancer, alopecia, pigment dyscrasia, onychodystrophy, and keratoderma, OMIM:618373

18 Feb 2019, Gel status: 1

Added New Source

Rebecca Foulger (Genomics England curator)

Source London North GLH was added to SASH1.

28 Jan 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set Phenotypes