Palmoplantar Keratoderma and Erythrokeratoderma
Gene: SASH1EnsemblGeneIds (GRCh38): ENSG00000111961
EnsemblGeneIds (GRCh37): ENSG00000111961
OMIM: 607955, Gene2Phenotype
SASH1 is in 2 panels
1 review
Paul De Fazio (Victorian Clinical Genetics Services)
Associated with Dyschromatosis universalis hereditaria 1 (MIM#127500). One family reported with biallelic variants in SASH1 who had palmoplantar keratoderma (among other phenotypes), but this is the only report of palmoplantar keratoderma associated with variants in this gene that I can find.
Sources: LiteratureCreated: 17 Aug 2020, 2:25 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Dyschromatosis universalis hereditaria 1 (MIM#127500)
Publications
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Phenotypes
-
- Dyschromatosis universalis hereditaria 1 (MIM#127500)
- OMIM
- 607955
- Clinvar variants
- Variants in SASH1
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: sash1 has been classified as Red List (Low Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: sash1 has been classified as Red List (Low Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Paul De Fazio (Victorian Clinical Genetics Services)gene: SASH1 was added gene: SASH1 was added to Palmoplantar Keratoderma and Erythrokeratoderma. Sources: Literature 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 Dyschromatosis universalis hereditaria 1 (MIM#127500) Review for gene: SASH1 was set to RED gene: SASH1 was marked as current diagnostic