Corneal abnormalities

Gene: CHST6

Green List (high evidence)

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.

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

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

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

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

14 Feb 2017, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for CHST6 were set to Macular Corneal Dystrophy;Macular corneal dystrophy 217800;Paediatric Macular corneal dystrophy (type 1 and type 2), AR

14 Feb 2017, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

14 Feb 2017, Gel status: 2

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for CHST6 were set to 11017086;15013869

14 Feb 2017, Gel status: 2

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for CHST6 were set to 11017086

19 Jan 2017, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

CHST6 was added to Corneal abnormalitiespanel. Source: GDL Corneal Abnormalities panel

28 Apr 2015, Gel status: 2

Added New Source

GEL ()

CHST6 was added to Corneal abnormalitiespanel. Sources: Illumina TruGenome Clinical Sequencing Services

28 Apr 2015, Gel status: 1

Added New Source

GEL ()

CHST6 was added to Corneal abnormalitiespanel. Sources: Radboud University Medical Center, Nijmegen