Congenital Disorders of Glycosylation
Gene: CHSY1

CHSY1 (chondroitin sulfate synthase 1)
EnsemblGeneIds (GRCh38): ENSG00000131873
EnsemblGeneIds (GRCh37): ENSG00000131873
OMIM: 608183, Gene2Phenotype
CHSY1 is in 12 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Skeletal anomalies, dysmorphic features and deafness. More than 5 unrelated families reported.
Created: 21 Dec 2020, 6:43 a.m. | Last Modified: 21 Dec 2020, 6:43 a.m.

Panel Version: 0.330

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Created: 21 Dec 2020, 6:43 a.m.
Last Modified: 21 Dec 2020, 6:43 a.m.
Panel version: 0.330

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Victorian Clinical Genetics Services

Phenotypes

Temtamy preaxial brachydactyly syndrome, MIM# 605282, MONDO:0011533
CHSY1-CDG (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies)

OMIM

608183

Clinvar variants

Variants in CHSY1

Penetrance

None

Publications

Panels with this gene