ALG9

ALG9, alpha-1,2-mannosyltransferase
OMIM: 606941
PanelMode of inheritanceDetails
7 panels
Component of the following Super Panels:
  • - Hereditary ataxia and cerebellar anomalies - childhood onset
Signed-off version 3.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
ALG9-CDG (Disorders of protein N-glycosylation), Congenital disorder of glycosylation, type Il 608776, Mannosyltransferase 7-9 deficiency (Disorders of protein N-glycosylation)
Component of the following Super Panels:
  • - Cystic renal disease
Signed-off version 3.1
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes
cystic liver disease, cystic kidney disease, Gillessen-Kaesbach-Nishimura syndrome, 263210
R-numbers: R21, R412
Signed-off version 2.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Gillessen-Kaesbach-Nishimura syndrome, 263210, AR lethal skeletal dysplasia, ALG9-CDG, Congenital disorder of glycosylation, type Il, 608776, NIHF, hydops fetalis
R-numbers: R59
Signed-off version 3.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Congenital disorder of glycosylation type Il 608776
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
Mannosyltransferase 7-9 deficiency (Disorders of protein N-glycosylation), ALG9-CDG (Disorders of protein N-glycosylation), Congenital disorder of glycosylation, type Il 608776
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 4.4
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Developmental delay, Congenital disorder of glycosylation, type Il 608776, Gillessen-Kaesbach-Nishimura syndrome 263210
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 3.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Gillessen-Kaesbach-Nishimura syndrome 263210, Congenital disorder of glycosylation, type Il 608776, Gillessen-Kaesbach-Nishimura syndrome 263210