Congenital Disorders of Glycosylation
Gene: CHST6

CHST6 (carbohydrate sulfotransferase 6)
EnsemblGeneIds (GRCh38): ENSG00000183196
EnsemblGeneIds (GRCh37): ENSG00000183196
OMIM: 605294, Gene2Phenotype
CHST6 is in 3 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Gene encodes corneal N-acetylglucosamine-6-O-sulfotransferase (GlcNAc6ST).

Bi-allelic variants in this gene cause progressive punctate opacities in the cornea, which result in bilateral loss of vision, eventually necessitating corneal transplantation.

More than 30 unrelated families reported.
Created: 20 Dec 2020, 7:18 a.m. | Last Modified: 20 Dec 2020, 7:18 a.m.

Panel Version: 0.317

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Macular corneal dystrophy, MIM# 217800, MONDO:0009020

Publications

Created: 20 Dec 2020, 7:18 a.m.
Last Modified: 20 Dec 2020, 7:18 a.m.
Panel version: 0.317

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Victorian Clinical Genetics Services

Phenotypes

Macular corneal dystrophy, MIM# 217800, MONDO:0009020

OMIM

605294

Clinvar variants

Variants in CHST6

Penetrance

None

Publications

Panels with this gene