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 2.4
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 1.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Macular corneal dystrophy 217800
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R98
Signed-off version 2.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
CHST6-CDG (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies), Macular corneal dystrophy 217800