CHST6

carbohydrate sulfotransferase 6
OMIM: 605294
PanelMode of inheritanceDetails
3 panels
Component of the following Super Panels:
  • - Hereditary ataxia and cerebellar anomalies - childhood onset
Signed-off version 5.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Macular corneal dystrophy 217800, CHST6-CDG (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies)
R-numbers: R262
Signed-off version 3.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Macular corneal dystrophy 217800
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 5.6
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
CHST6-CDG (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies), Macular corneal dystrophy 217800