Rare syndromic craniosynostosis or isolated multisuture synostosis
Gene: CHST3

CHST3 (carbohydrate sulfotransferase 3)
EnsemblGeneIds (GRCh38): ENSG00000122863
EnsemblGeneIds (GRCh37): ENSG00000122863
OMIM: 603799, Gene2Phenotype
CHST3 is in 11 panels

2 reviews

Tracy Lester (Genetics laboratory, Oxford UK)

Red List (low evidence)

No CSS mentioned in cases on OMIM. Searle et al 2014 Clin Dys 23:12 report a case with sagittal CSS. On Fulgent CSS panel. ; Review on behalf of Tracy Lester and Andrew Wilkie
Created: 5 Mar 2019, 11:33 a.m.

Phenotypes
Spondyloepiphyseal dysplasia with congenital joint dislocations

Created: 5 Mar 2019, 11:33 a.m.

Panel version: 1.47

Eleanor Williams (Genomics England Curator)

I don't know

This gene was part of an initial gene list collated by Tracy Lester, Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, February 2019 on behalf of the GMS Musculoskeletal Specialist Group; Gene symbol submitted: CHST3; Suggested initial gene rating: red
Created: 5 Mar 2019, 11:21 a.m.

Created: 5 Mar 2019, 11:21 a.m.

Panel version: 1.46

Details

Sources

NHS GMS

Phenotypes

Spondyloepiphyseal dysplasia with congenital joint dislocations

OMIM

603799

Clinvar variants

Variants in CHST3

Penetrance

None

Panels with this gene

History Filter Activity

11 May 2019, Gel status: 1

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Added phenotypes Spondyloepiphyseal dysplasia with congenital joint dislocations for gene: CHST3

5 Mar 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Eleanor Williams (Genomics England Curator)

gene: CHST3 was added gene: CHST3 was added to Craniosynostosis. Sources: NHS GMS Mode of inheritance for gene: CHST3 was set to

Rare syndromic craniosynostosis or isolated multisuture synostosis Gene: CHST3