Epidermolysis bullosa and congenital skin fragility
Gene: CASTComment on phenotypes: Previous phenotypes:
Peeling skin HP:0040189;Leukonychia HP:0001820;OMIM:#616295;Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads, 616295;Punctate palmoplantar hyperkeratosis HP:0007530;Knuckle pads.;Cheilitis HP:0100825Created: 24 Mar 2021, 11 a.m. | Last Modified: 24 Mar 2021, 11 a.m.
Panel Version: 1.7
Note from John McGrath (email correspondance): Several of the green genes – CAST, CDSN, CSTA, SERPINB8 are rather extending the definition of skin fragility into skin peeling.Created: 14 Jan 2019, 2:52 p.m.
Comment Imported from Peeling skin syndrome panel: Comment 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 Peeling skin syndrome panel: 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.
Comment Imported from Peeling skin syndrome panel: 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:
Comment Imported from Peeling skin syndrome panel: 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).
Comment Imported from Peeling skin syndrome panel: 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.
Comment Imported from Peeling skin syndrome panel: 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
Phenotypes for gene: CAST were changed from Peeling skin HP:0040189; Leukonychia HP:0001820; OMIM:#616295; Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads, 616295; Punctate palmoplantar hyperkeratosis HP:0007530; Knuckle pads.; Cheilitis HP:0100825 to Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads, OMIM:616295
Publications for gene: CAST were set to PMID: 25683118
gene: CAST was added gene: CAST was added to Epidermolysis bullosa and congenital skin fragility. Sources: Expert Review Green Mode of inheritance for gene: CAST was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CAST were set to PMID: 25683118 Phenotypes for gene: CAST were set to Peeling skin HP:0040189; Leukonychia HP:0001820; OMIM:#616295; Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads, 616295; Punctate palmoplantar hyperkeratosis HP:0007530; Knuckle pads.; Cheilitis HP:0100825