Corneal abnormalities
Gene: CHST6

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

2 reviews

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Promoted to green; expert review green and more than 3 families/cases reported.
Created: 14 Feb 2017, 10:51 a.m.

Created: 14 Feb 2017, 10:51 a.m.

Panel version: 0.7

Chris Campbell (NHS)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Paediatric Macular corneal dystrophy (type 1 and type 2), AR

Publications

11017086

Variants in this GENE are reported as part of current diagnostic practice

Created: 7 Feb 2017, 5:35 p.m.

Panel version: 0.3

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
GDL Corneal Abnormalities panel
Illumina TruGenome Clinical Sequencing Services
Radboud University Medical Center, Nijmegen

Phenotypes

Macular Corneal Dystrophy
Macular corneal dystrophy 217800
Paediatric Macular corneal dystrophy (type 1 and type 2), AR

OMIM

605294

Clinvar variants

Variants in CHST6

Penetrance

Complete

Publications

Panels with this gene

History Filter Activity

9 Mar 2017, Gel status: 4

panel promoted to version 1

Chris Campbell (GEL)

09/03/2017 Revised and approved to Version 1.0 after expert and internal review.

14 Feb 2017, Gel status: 4