Congenital disorders of glycosylation
Gene: CHSY1

CHSY1 (chondroitin sulfate synthase 1)
EnsemblGeneIds (GRCh38): ENSG00000131873
EnsemblGeneIds (GRCh37): ENSG00000131873
OMIM: 608183, Gene2Phenotype
CHSY1 is in 11 panels

3 reviews

Rebecca Foulger (Genomics England curator)

GlyGen link: https://www.glygen.org/protein_detail.html?uniprot_canonical_ac=Q86X52-1
Created: 9 Jan 2020, 11:18 a.m. | Last Modified: 9 Jan 2020, 11:18 a.m.

Panel Version: 2.0

Created: 9 Jan 2020, 11:18 a.m.
Last Modified: 9 Jan 2020, 11:18 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 6variants reported in 6 cases.
Created: 19 Dec 2016, 1:31 p.m.

Created: 19 Dec 2016, 1:31 p.m.

Panel version: 0.123

Daniel Ungar (University of York, Department of Biology)

Green List (high evidence)

Temtamy preaxial brachydactyly syndrome
Created: 14 Dec 2016, 2:02 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

Created: 14 Dec 2016, 2:02 p.m.

Panel version: 0.19

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Radboud University Medical Center, Nijmegen
Literature
Emory Genetics Laboratory

Phenotypes

Temtamy preaxial brachydactyly syndrome 605282
CHSY1-CDG (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies)

OMIM

608183

Clinvar variants

Variants in CHSY1

Penetrance

Complete

Publications

Panels with this gene