Palmoplantar keratoderma and erythrokeratodermas
Gene: CASTComment on phenotypes: punctate keratoderma; knuckle pads; PLACK syndromeCreated: 11 Apr 2017, 1:30 p.m.
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.
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
Promoted to Version 1, April 11th 2017: Reviews were assessed, and panel was revised according to expert review and additional curation.
Phenotypes for CAST were set to Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads 616295
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
Phenotypes for CAST were set to punctate keratoderma; peeling skin; knuckle pads; cheilitis; leukonychia; PLACK syndrome
Mode of inheritance for CAST was changed to BIALLELIC, autosomal or pseudoautosomal
CAST was added to Palmoplantar keratoderma and erythrokeratodermaspanel. Sources: Literature
CAST was created by edelann