CSGALNACT1

chondroitin sulfate N-acetylgalactosaminyltransferase 1
OMIM: 616615
PanelMode of inheritanceDetails
3 panels
Component of the following Super Panels:
  • - Hereditary ataxia and cerebellar anomalies - childhood onset
Signed-off version 3.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Congenital disorder of glycosylation, Skeletal dysplasia, mild, with joint laxity and advanced bone age OMIM:618870, skeletal dysplasia, mild, with joint laxity and advanced bone age MONDO:0030029
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R98
Signed-off version 3.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Congenital disorder of glycosylation, Skeletal dysplasia, mild, with joint laxity and advanced bone age OMIM:618870, skeletal dysplasia, mild, with joint laxity and advanced bone age MONDO:0030029
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 3.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Desbuquois dysplasia with mild joint laxity, non-proportionate short stature, Skeletal dysplasia, mild, with joint laxity and advanced bone age OMIM:618870, skeletal dysplasia, mild, with joint laxity and advanced bone age MONDO:0030029