Osteogenesis imperfecta
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
2 reviews
Rebecca Pollitt (Sheffield Diagnostic Genetics Service ; University of Sheffield)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
spondyloepiphyseal dysplasia and congenital joint dislocations
Meena Balasubramanian (Sheffield Children's NHS Foundation Trust)
Remove from panelCreated: 27 Nov 2015, 3:04 p.m.
Details
- Sources
-
- Expert Review Removed
- Emory Genetics Laboratory
- Phenotypes
-
- Disproportionate Short Stature
- Tags
- OMIM
- 603799
- Clinvar variants
- Variants in CHST3
- Penetrance
- Complete
- Panels with this gene
-
- Fetal anomalies
- Likely inborn error of metabolism
- Undiagnosed metabolic disorders
- Congenital disorders of glycosylation
- Rare syndromic craniosynostosis or isolated multisuture synostosis
- Osteogenesis imperfecta
- Multiple Epiphyseal Dysplasia
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
- DDG2P
- Skeletal dysplasia
History Filter Activity
26 Feb 2021, Gel status: 0
Added Tag
Arina Puzriakova (Genomics England Curator)Tag curated_removed tag was added to gene: CHST3.
12 May 2016, Gel status: 0
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been removed from the panel.
12 May 2016, Gel status: 0
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been removed from the panel.
20 Jul 2015, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)CHST3 was added to Osteogenesis Imperfecta panel. Sources: Emory Genetics Laboratory