Ichthyosis and erythrokeratoderma

Gene: CAST

Green List (high evidence)

CAST (calpastatin)
EnsemblGeneIds (GRCh38): ENSG00000153113
EnsemblGeneIds (GRCh37): ENSG00000153113
OMIM: 114090, Gene2Phenotype
CAST is in 5 panels

3 reviews

Sarah Leigh (Genomics England Curator)

Comment on phenotypes: punctate keratoderma; knuckle pads; PLACK syndrome
Created: 11 Apr 2017, 1:30 p.m.

Rebecca Foulger (Genomics England curator)

Comment on list classification: Updated rating from Grey to Green: 1 Green review (by gene submitter) and 3 unrelated cases of PPK phenotype reported in 3 unrelated families of different ethnic origins in PMID:25683118.
Created: 20 Mar 2017, 5:20 p.m.
Comment on mode of inheritance: Mode of inheritance suggested by reviewer and supported by PMID:25683118.
Created: 20 Mar 2017, 5:18 p.m.
Lin et al., (2015, PMID:25683118): In affected individuals with PLACK syndrome (peeling skin, leukonychia, acral punctate keratoses, cheilitis, and knuckle pads) from 3 families of different ethnicities (Chinese, Nepalese, European), they identified homozygous mutations (c.607dup, c.424A>T, and c.1750delG) in the CAST gene, all of which were predicted to encode truncated proteins (p.Ile203Asnfs∗8, p.Lys142∗, and p.Val584Trpfs∗37).
Created: 20 Mar 2017, 5:17 p.m.

Edel O'Toole (Queen Mary University of London)

Green List (high evidence)

Rare: 3 reported families.
Created: 14 Mar 2017, 7:51 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
punctate keratoderma; peeling skin; knuckle pads; cheilitis; leukonychia

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads 616295
OMIM
114090
Clinvar variants
Variants in CAST
Penetrance
None
Panels with this gene

History Filter Activity

3 Jan 2019, Gel status: 4

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

Ellen McDonagh (Genomics England Curator)

gene: CAST was added gene: CAST was added to Ichthyosis and erythrokeratoderma. Sources: Expert Review Green Mode of inheritance for gene: CAST was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CAST were set to Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads 616295