CHST6

carbohydrate sulfotransferase 6
OMIM: 605294, Gene2Phenotype

7 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 7 panels
Green CHST6 in Congenital disorders of glycosylation Level 2: Metabolic Version 8.8 Latest signed off version: v8.7 (12 Aug 2026) Component of the following Super Panels: Hereditary ataxia and cerebellar anomalies, childhood onset	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Literature Illumina TruGenome Clinical Sequencing Services Emory Genetics Laboratory Phenotypes Macular corneal dystrophy 217800 CHST6-CDG (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies)
Green CHST6 in Corneal abnormalities Level 3: Anterior segment abnormalities Level 2: Ophthalmological disorders Version 1.14	review	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
Green CHST6 in Corneal dystrophy Level 2: Ophthalmology Version 4.12 Latest signed off version: v4.11 (12 Aug 2026)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Wessex and West Midlands GLH Phenotypes Macular corneal dystrophy 217800
Green CHST6 in Undiagnosed metabolic disorders Level 3: Specific metabolic abnormalities Level 2: Metabolic disorders Version 1.645	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes CHST6-CDG (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies) Macular corneal dystrophy 217800 CHST6-CDG (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies)
Green CHST6 in Likely inborn error of metabolism Level 2: Metabolic Version 9.30 Latest signed off version: v9.29 (12 Aug 2026) Component of the following Super Panels: Hypotonic infant Leukodystrophy, childhood onset Paediatric disorders Unexplained death in infancy and sudden unexplained death in childhood	review	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes CHST6-CDG (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies) Macular corneal dystrophy 217800
Red CHST6 in Structural eye disease Level 2: Ophthalmology Version 5.8 Latest signed off version: v5.7 (12 Aug 2026)	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Phenotypes Macular corneal dystrophy, 217800
Red CHST6 in Dystonia, chorea or related movement disorder, childhood onset Level 2: Neurology Version 8.14 Latest signed off version: v8.13 (12 Aug 2026)	review	Not set	Sources Expert Review Red London North GLH