Peeling skin syndromeGene: CHST8
Comment when marking as ready: CHST8 rated as red by Expert review, and only one isolated case of Peeling skin syndrome described in OMIM and literature.
Created: 2 Dec 2016, 9:54 a.m.
In 7 affected members of a consanguineous Pakistani family segregating autosomal recessive noninflammatory peeling skin syndrome (PSS3; OMIM:616265), Cabral et al. (2012, PMID: 22289416) identified a homozygous c.229C-T transition (rs149660944) in exon 4 of the CHST8 gene, resulting in a R77W substitution. As David Kelsell states: this is the only reported mutation.
Created: 1 Dec 2016, 4:38 p.m.
Homozygous putative peeling skin associated substitution (R77W) described in only one family. No other mutations reported in other peeling skin families.
Created: 3 May 2016, 1:52 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
12 December 2016: Reviews were assessed, and panel was revised according to expert review and additional curation.
Phenotypes for gene CHST8 were set to ?Peeling skin syndrome 3, 616265; OMIM:#616265;Peeling skin HP:0040189;Ichthyosis HP:0008064
Phenotypes for CHST8 were set to OMIM:#616265; Peeling skin HP:0040189; Ichthyosis HP:0008064
This gene has been classified as Red List (Low Evidence).
CHST8 was created by ellenmcdonagh
CHST8 was added to Peeling skin syndromepanel. Sources: Literature