Corneal dystrophies

Gene: CHST6

Green List (high evidence)

CHST6 (carbohydrate sulfotransferase 6)
EnsemblGeneIds (GRCh38): ENSG00000183196
EnsemblGeneIds (GRCh37): ENSG00000183196
OMIM: 605294, Gene2Phenotype
CHST6 is in 8 panels

1 review

Morag Shanks (Oxford Medical Genetics laboratory)

Green List (high evidence)

Manchester panel
Created: 1 Apr 2019, 2:30 p.m.

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
  • Wessex and West Midlands GLH
Phenotypes
  • Macular corneal dystrophy 217800
OMIM
605294
Clinvar variants
Variants in CHST6
Penetrance
None
Publications
Panels with this gene

History Filter Activity

1 Apr 2019, Gel status: 4

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

Ivone Leong (Genomics England Curator)

gene: CHST6 was added gene: CHST6 was added to Corneal dystrophies. Sources: Wessex and West Midlands GLH,Expert Review Green Mode of inheritance for gene: CHST6 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CHST6 were set to 15013869; 11818380; 11017086 Phenotypes for gene: CHST6 were set to Macular corneal dystrophy 217800