Pigmentary skin disorders

Gene: SASH1

Green List (high evidence)

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

2 reviews

Tom Cullup (Great Ormond Street Hospital)

Green List (high evidence)

Possible AR form (Cancer, alopecia, pigment dyscrasia, onychodystrophy, and keratoderma, 618373), but insufficient evidence
Created: 12 Dec 2019, 12:23 p.m. | Last Modified: 12 Dec 2019, 12:23 p.m.
Panel Version: 0.25

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
DYSCHROMATOSIS UNIVERSALIS HEREDITARIA 1; DUH1

Publications

Rebecca Foulger (Genomics England curator)

Green List (high 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: Green; Evidence for inclusion: none provided; Evidence for exclusion: none provided; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none provided.
Created: 31 Jan 2019, 11:31 a.m.

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
Phenotypes
  • Pigmentation defects, palmoplantar keratoderma, spinocellular carcinoma (homo)
  • DYSCHROMATOSIS UNIVERSALIS HEREDITARIA 1
  • DUH1
  • Dyschromatosis (het)
OMIM
607955
Clinvar variants
Variants in SASH1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

12 Dec 2019, Gel status: 3

Set mode of inheritance, Set Phenotypes, Set publications

Catherine Snow (Genomics England)

Mode of inheritance for gene SASH1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Added phenotypes DUH1; DYSCHROMATOSIS UNIVERSALIS HEREDITARIA 1 for gene: SASH1 Publications for gene SASH1 were changed from to 27659786

18 Feb 2019, Gel status: 4

Added New Source

Rebecca Foulger (Genomics England curator)

Source London North GLH was added to SASH1.

31 Jan 2019, Gel status: 4

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

Rebecca Foulger (Genomics England curator)

gene: SASH1 was added gene: SASH1 was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: SASH1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: SASH1 were set to Pigmentation defects, palmoplantar keratoderma, spinocellular carcinoma (homo); Dyschromatosis (het)