Peeling skin syndrome
Gene: CHST8
CHST8 (carbohydrate sulfotransferase 8)
EnsemblGeneIds (GRCh38): ENSG00000124302
EnsemblGeneIds (GRCh37): ENSG00000124302
OMIM: 610190, Gene2Phenotype
CHST8 is in 2 panels
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.
David Kelsell (Queen Mary University of London)
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
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Literature
- Phenotypes
-
- ?Peeling skin syndrome 3, 616265
- OMIM:#616265
- Peeling skin HP:0040189
- Ichthyosis HP:0008064
- OMIM
- 610190
- Clinvar variants
- Variants in CHST8
- Penetrance
- Complete
- Publications
-
- PMID: 22289416
- Panels with this gene
History Filter Activity
12 Dec 2016, Gel status: 1
panel promoted to version 1
Rebecca Foulger (Genomics England curator)12 December 2016: Reviews were assessed, and panel was revised according to expert review and additional curation.
5 Dec 2016, Gel status: 1
Set Phenotypes
Rebecca Foulger (Genomics England curator)Phenotypes for gene CHST8 were set to ?Peeling skin syndrome 3, 616265; OMIM:#616265;Peeling skin HP:0040189;Ichthyosis HP:0008064
2 Dec 2016, Gel status: 1
Set Phenotypes
Rebecca Foulger (Genomics England curator)Phenotypes for CHST8 were set to OMIM:#616265; Peeling skin HP:0040189; Ichthyosis HP:0008064
2 Dec 2016, Gel status: 1
Gene classified by Genomics England curator
Rebecca Foulger (Genomics England curator)This gene has been classified as Red List (Low Evidence).
27 Apr 2016, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)CHST8 was created by ellenmcdonagh
27 Apr 2016, Gel status: 0
Added New Source
Ellen McDonagh (Genomics England Curator)CHST8 was added to Peeling skin syndromepanel. Sources: Literature