Genomics England
GMS Panels
Panels
Genes and Entities

CHST6

carbohydrate sulfotransferase 6
OMIM: 605294
PanelMode of inheritanceDetails
3 panels
Green
in Congenital disorders of glycosylation
Component of the following Super Panels:
  • - Hereditary ataxia and cerebellar anomalies - childhood onset
Signed-off version 4.13
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Macular corneal dystrophy 217800, CHST6-CDG (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies)
Green
in Corneal dystrophy
R-numbers: R262
Signed-off version 3.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Macular corneal dystrophy 217800
Green
in Likely inborn error of metabolism - targeted testing not possible
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R98
Signed-off version 4.78
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
CHST6-CDG (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies), Macular corneal dystrophy 217800