Palmoplantar keratoderma and erythrokeratodermas
Gene: CASTEnsemblGeneIds (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 syndromeCreated: 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)
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
- Complete
- Publications
- Panels with this gene
History Filter Activity
panel promoted to version 1
Rebecca Foulger (Genomics England curator)Promoted to Version 1, April 11th 2017: Reviews were assessed, and panel was revised according to expert review and additional curation.
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for CAST were set to Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads 616295
Gene classified by Genomics England curator
Rebecca Foulger (Genomics England curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Rebecca Foulger (Genomics England curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Rebecca Foulger (Genomics England curator)Phenotypes for CAST were set to punctate keratoderma; peeling skin; knuckle pads; cheilitis; leukonychia; PLACK syndrome
Set Mode of Inheritance
Rebecca Foulger (Genomics England curator)Mode of inheritance for CAST was changed to BIALLELIC, autosomal or pseudoautosomal
Added New Source
Edel O'Toole (Queen Mary University of London)CAST was added to Palmoplantar keratoderma and erythrokeratodermaspanel. Sources: Literature
Created
Edel O'Toole (Queen Mary University of London)CAST was created by edelann