Multiple Epiphyseal Dysplasia
Gene: CHST3
CHST3 (carbohydrate sulfotransferase 3)
EnsemblGeneIds (GRCh38): ENSG00000122863
EnsemblGeneIds (GRCh37): ENSG00000122863
OMIM: 603799, Gene2Phenotype
CHST3 is in 11 panels
EnsemblGeneIds (GRCh38): ENSG00000122863
EnsemblGeneIds (GRCh37): ENSG00000122863
OMIM: 603799, Gene2Phenotype
CHST3 is in 11 panels
4 reviews
Ellen McDonagh (Genomics England Curator)
Comment on mode of inheritance: Confirmed on G2P and OMIM.Created: 5 Feb 2016, 3:31 p.m.
Comment on list classification: Associated with Spondyloepiphyseal dysplasia with congenital joint dislocations. All reviewers agree it should be demoted to red from amber.Created: 5 Feb 2016, 3:30 p.m.
Sarah Smithson (University Hospitals Bristol NHS Foundation Trust )
SED with joint dislocations is a specific phenotype separate to MED.Created: 2 Dec 2015, 10:52 a.m.
Mode of pathogenicity
Other
Christine Burren (University Hospitals Bristol NHS Foundation Trust)
This CHST3 gene is associated with SED instead of MED.Created: 2 Dec 2015, 10:50 a.m.
Mode of pathogenicity
Other
Michael Briggs (Newcastle University)
No published evidence that mutations in CHST3 causes radiographically confirmed MED.Created: 9 Oct 2015, 9:29 a.m.
Mode of inheritance
Unknown
Mode of pathogenicity
Other
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Spondyloepiphyseal dysplasia with congenital joint dislocations, 143095
- Spondyloepiphyseal Dysplasia
- OMIM
- 603799
- Clinvar variants
- Variants in CHST3
- Penetrance
- Complete
- Panels with this gene
-
- Skeletal dysplasia
- Fetal anomalies
- Undiagnosed metabolic disorders
- Rare syndromic craniosynostosis or isolated multisuture synostosis
- Osteogenesis imperfecta
- Intellectual disability
- Congenital disorders of glycosylation
- Childhood onset dystonia, chorea or related movement disorder
- Likely inborn error of metabolism
- Multiple Epiphyseal Dysplasia
- DDG2P
History Filter Activity
5 Feb 2016, Gel status: 1
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
5 Feb 2016, Gel status: 1
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for CHST3 was changed to BIALLELIC, autosomal or pseudoautosomal
5 Feb 2016, Gel status: 1
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
28 Apr 2015, Gel status: 2
Added New Source
GEL ()CHST3 was added to Multiple Epiphyseal Dysplasiapanel. Sources: Illumina TruGenome Clinical Sequencing Services
28 Apr 2015, Gel status: 1
Added New Source
GEL ()CHST3 was added to Multiple Epiphyseal Dysplasiapanel. Sources: Radboud University Medical Center, Nijmegen