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  3. CHST8
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Epidermolysis bullosa and congenital skin fragility

Gene: CHST8

Red List (low evidence)
CHST8 (carbohydrate sulfotransferase 8)
EnsemblGeneIds (GRCh38): ENSG00000124302
EnsemblGeneIds (GRCh37): ENSG00000124302
OMIM: 610190, Gene2Phenotype
CHST8 is in 2 panels

2 reviews

Rebecca Foulger (Genomics England curator)

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.
Created: 1 Dec 2016, 4:38 p.m.

Panel version: Imported from Peeling skin syndrome panel version 0.15

David Kelsell (Queen Mary University of London)

Red List (low evidence)

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

Created: 3 May 2016, 1:52 p.m.

Panel version: Imported from Peeling skin syndrome panel version 0.13

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Ichthyosis HP:0008064
  • Peeling skin HP:0040189
  • OMIM:#616265
  • ?Peeling skin syndrome 3, 616265
OMIM
610190
Clinvar variants
Variants in CHST8
Penetrance
None
Publications
Panels with this gene

History Filter Activity

3 Jan 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

gene: CHST8 was added gene: CHST8 was added to Epidermolysis bullosa and congenital skin fragility. Sources: Expert Review Red Mode of inheritance for gene: CHST8 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CHST8 were set to PMID: 22289416 Phenotypes for gene: CHST8 were set to Ichthyosis HP:0008064; Peeling skin HP:0040189; OMIM:#616265; ?Peeling skin syndrome 3, 616265