Peeling skin syndrome
Gene: CASTComment when marking as ready: Expert review for CAST is green and >3 cases in OMIM.Created: 5 Dec 2016, 10:14 a.m.
Comment on list classification: Updated rating from Red to Green: Expert review for CAST is green, and >3 cases in OMIM (4 individuals from 3 families of different ethnic origin).Created: 2 Dec 2016, 10:54 a.m.
Mode of Inheritance (autosomal recessive) confirmed by OMIM based on PMID:25683118 (Lin et al. (2015). PMID:25683118 identified loss-of-function mutations in CAST from three families of different ethnicities:
In a 28-year-old Chinese woman (individual 1) with OMIM:616295, Lin et al. (2015) identified homozygosity for a 1-bp duplication, c.607dup (rs786205140) in CAST, causing a frameshift and premature termination codon (Ile203AsnfsTer8).
In a Nepalese woman (individual 2) with OMIM:616295, Lin et al. (2015) identified homozygosity for a c.424A-T transversion (rs786204842) in the CAST gene, resulting in a lys142-to-ter (K142X) substitution.
In 2 brothers (individuals 3 and 4), OMIM:616295, Lin et al. (2015) identified homozygosity for a 1-bp deletion, c.1750delG (rs786205141) in the CAST gene, causing a frameshift and premature termination codon (Val584TrpfsTer37).Created: 1 Dec 2016, 3:53 p.m.
phenotypes as described in submitted detailsCreated: 3 May 2016, 1:44 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Publications
12 December 2016: Reviews were assessed, and panel was revised according to expert review and additional curation.
This gene has been classified as Green List (High Evidence).
Phenotypes for gene CAST were set to Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads, 616295; OMIM:#616295; Peeling skin HP:0040189; Leukonychia HP:0001820; Punctate palmoplantar hyperkeratosis HP:0007530; Cheilitis HP:0100825; Knuckle pads.
This gene has been classified as Green List (High Evidence).
Mode of inheritance for CAST was changed to BIALLELIC, autosomal or pseudoautosomal
CAST was added to Peeling skin syndromepanel. Sources: Research
CAST was created by ellenmcdonagh