Congenital disorders of glycosylation
Gene: CHST3EnsemblGeneIds (GRCh38): ENSG00000122863
EnsemblGeneIds (GRCh37): ENSG00000122863
OMIM: 603799, Gene2Phenotype
CHST3 is in 11 panels
3 reviews
Rebecca Foulger (Genomics England curator)
GlyGen link: https://www.glygen.org/protein_detail.html?uniprot_canonical_ac=Q7LGC8-1Created: 9 Jan 2020, 11:16 a.m. | Last Modified: 9 Jan 2020, 11:16 a.m.
Panel Version: 2.0
Sarah Leigh (Genomics England Curator)
Comment when marking as ready: Associated with phenotype in OMIM and as a confirmed Developmental Disorder Gene / G2P. At least 13 variants reported.Created: 15 Dec 2016, 2:17 p.m.
Daniel Ungar (University of York, Department of Biology)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- UKGTN
- Radboud University Medical Center, Nijmegen
- Literature
- Illumina TruGenome Clinical Sequencing Services
- Emory Genetics Laboratory
- Phenotypes
-
- Spondyloepiphyseal dysplasia with congenital joint dislocations 143095
- CHST3-CDG (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies)
- OMIM
- 603799
- Clinvar variants
- Variants in CHST3
- Penetrance
- Complete
- Publications
- 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
panel promoted to version 1
Sarah Leigh (Genomics England Curator)Promoted to V1 19th December 2016
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set publications
Sarah Leigh (Genomics England Curator)Publications for CHST3 were set to 20830804
Added New Source
Sarah Leigh (Genomics England Curator)CHST3 was added to Congenital disorders of glycosylationpanel. Source: UKGTN
Added New Source
Sarah Leigh (Genomics England Curator)CHST3 was added to Congenital disorders of glycosylationpanel. Source: Radboud University Medical Center, Nijmegen
Set Mode of Inheritance, Added New Source
Sarah Leigh (Genomics England Curator)CHST3 was added to Congenital disorders of glycosylationpanel. Source: Literature Model of inheritance for gene CHST3 was set to BIALLELIC, autosomal or pseudoautosomal
Added New Source
Sarah Leigh (Genomics England Curator)CHST3 was added to Congenital disorders of glycosylationpanel. Source: Illumina TruGenome Clinical Sequencing Services
Added New Source
Sarah Leigh (Genomics England Curator)CHST3 was added to Congenital disorders of glycosylationpanel. Sources: Emory Genetics Laboratory
Created
Sarah Leigh (Genomics England Curator)CHST3 was created by sleigh