Palmoplantar Keratoderma and Erythrokeratoderma
Gene: CAST

CAST (calpastatin)
EnsemblGeneIds (GRCh38): ENSG00000153113
EnsemblGeneIds (GRCh37): ENSG00000153113
OMIM: 114090, Gene2Phenotype
CAST is in 3 panels

1 review

Ain Roesley (Victorian Clinical Genetics Services)

Green List (high evidence)

Also known as PLACK syndrome which can present with palmoplantar keratoderma

Total of 6 probands reported, all PTVs.
Created: 12 Aug 2020, 1:41 a.m. | Last Modified: 12 Aug 2020, 1:41 a.m.

Panel Version: 0.8

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads (MIM#616295)

Publications

Created: 12 Aug 2020, 1:41 a.m.
Last Modified: 12 Aug 2020, 1:41 a.m.
Panel version: 0.8

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Victorian Clinical Genetics Services

Phenotypes

Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads (MIM#616295)

OMIM

114090

Clinvar variants

Variants in CAST

Penetrance

None

Publications

Panels with this gene