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  2. Congenital Disorders of Glycosylation
  3. CHST8
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Congenital Disorders of Glycosylation

Gene: CHST8

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

1 review

Elena Savva (Victorian Clinical Genetics Services)

Red List (low evidence)

No literature found to support this gene's presence in the Congenital Disorders of Glycosylation gene list. Single report for this gene, only associated to Peeling Skin Syndrome where a single family with functional studies has been reported.

Follow up paper in 2017 refutes original report
Created: 3 Feb 2020, 1:01 a.m. | Last Modified: 3 Feb 2020, 1:01 a.m.
Panel Version: 0.29

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Peeling Skin Syndrome

Publications

Created: 3 Feb 2020, 1:01 a.m.
Last Modified: 3 Feb 2020, 1:01 a.m.
Panel version: 0.29

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Peeling Skin Syndrome
OMIM
610190
Clinvar variants
Variants in CHST8
Penetrance
None
Publications
Panels with this gene

History Filter Activity

3 Feb 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: chst8 has been classified as Red List (Low Evidence).

3 Feb 2020, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: CHST8 were changed from to Peeling Skin Syndrome

3 Feb 2020, Gel status: 1

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: CHST8 were set to

3 Feb 2020, Gel status: 1

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: CHST8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

3 Feb 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: chst8 has been classified as Red List (Low Evidence).

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: CHST8 was added gene: CHST8 was added to Congenital Disorders of Glycosylation_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: CHST8 was set to Unknown