CAST

calpastatin
OMIM: 114090, Gene2Phenotype

5 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 5 panels
Green CAST in Palmoplantar keratoderma and erythrokeratodermas Level 3: Keratodermas Level 2: Dermatological disorders Version 1.31	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads 616295
Green CAST in Peeling skin syndrome Level 3: Skin fragility disorders Level 2: Dermatological disorders Version 1.4	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Research Phenotypes 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.
Green CAST in Ichthyosis and erythrokeratoderma Version 3.28 Latest signed off version: v3.2 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads, OMIM:616295
Green CAST in Epidermolysis bullosa and congenital skin fragility Version 2.7 Latest signed off version: v2.2 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads, OMIM:616295
Green CAST in Palmoplantar keratodermas Version 3.25 Latest signed off version: v3.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads