Structural eye disease
Gene: CHST6

CHST6 (carbohydrate sulfotransferase 6)
EnsemblGeneIds (GRCh38): ENSG00000183196
EnsemblGeneIds (GRCh37): ENSG00000183196
OMIM: 605294, Gene2Phenotype
CHST6 is in 7 panels

2 reviews

Nicola Ragge (Birmingham Women's and Children's NHS Foundation Hospital Trust)

Red List (low evidence)

corneal dystrophy gene, no evidence for involvement in structural eye disease
Created: 19 Jun 2019, 3:32 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Macular corneal dystrophy; 217800

Created: 19 Jun 2019, 3:32 p.m.

Panel version: 0.76

Ivone Leong (Genomics England Curator)

Red List (low evidence)

Submitted on behalf of Professor Nicola Ragge (Wessex and West Midlands GLH). corneal dystrophy gene, no evidence for involvement in structural eye disease
Created: 17 Apr 2019, 3:31 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Macular corneal dystrophy; 217800

Created: 17 Apr 2019, 3:31 p.m.

Panel version: 0.49

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

NHS GMS

Phenotypes

Macular corneal dystrophy, 217800

OMIM

605294

Clinvar variants

Variants in CHST6

Penetrance

None

Panels with this gene

History Filter Activity

17 Apr 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Ivone Leong (Genomics England Curator)

gene: CHST6 was added gene: CHST6 was added to Structural eye disease. Sources: NHS GMS Mode of inheritance for gene: CHST6 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CHST6 were set to Macular corneal dystrophy, 217800

Structural eye disease Gene: CHST6