Peeling skin syndrome
Gene: CSTAComment when marking as ready: Expert review for CSTA is green, Probable DD gene, and >3 cases in OMIM.Created: 5 Dec 2016, 10:15 a.m.
Comment on list classification: Updated rating from Red to Green: Expert review for CSTA is green and >3 unrelated cases in OMIM (4 unrelated families of different ethnic origin).Created: 2 Dec 2016, 11:04 a.m.
phenotypes are as described in submitted panelCreated: 3 May 2016, 1:41 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Is a probable DD gene for EXFOLIATIVE ICHTHYOSIS, AUTOSOMAL RECESSIVE, ICHTHYOSIS BULLOSA OF SIEMENS-LIKE.Created: 27 Apr 2016, 8:43 a.m.
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 CSTA were set to Peeling skin syndrome 4, 607936; OMIM:607936;Peeling skin HP:0040189;Ichthyosis HP:0008064;skin erosions HP:0200041;erythema HP:0010783;palmoplantar hyperkeratosis HP:0007530;Hyperhidrosis HP:0000975;Lichenification HP:0100725;Hyperkeratosis HP:0000962;Erythroderma HP:0001019
Phenotypes for CSTA were set to OMIM:607936; Peeling skin HP:0040189; Ichthyosis HP:0008064; skin erosions HP:0200041; erythema HP:0010783; palmoplantar hyperkeratosis HP:0007530; Hyperhidrosis HP:0000975; Lichenification HP:0100725; Hyperkeratosis HP:0000962; Erythroderma HP:0001019
This gene has been classified as Green List (High Evidence).
Publications for CSTA were set to PMID: 21944047; 23534700; 25400170; 26684698
Phenotypes for CSTA were set to OMIM:607936; Peeling skin HP:0040189, Ichthyosis HP:0008064, skin erosions HP:0200041, erythema HP:0010783, palmoplantar hyperkeratosis HP:0007530, Hyperhidrosis HP:0000975, Lichenification HP:0100725, Hyperkeratosis HP:0000962, Erythroderma HP:0001019
CSTA was created by ellenmcdonagh
CSTA was added to Peeling skin syndromepanel. Sources: Research