ALG12

ALG12, alpha-1,6-mannosyltransferase
OMIM: 607144
PanelMode of inheritanceDetails
6 panels
Component of the following Super Panels:
  • - Hereditary ataxia and cerebellar anomalies - childhood onset
Signed-off version 2.4
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Congenital disorder of glycosylation, type Ig 607143, Mannosyltransferase 8 deficiency (Disorders of protein N-glycosylation)
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
CONGENITAL DISORDER OF GLYCOSYLATION TYPE 1G 607143
R-numbers: R21
Signed-off version 1.92
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
CONGENITAL DISORDER OF GLYCOSYLATION TYPE 1G
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
Congenital disorder of glycosylation, type Ig 607143, Mannosyltransferase 8 deficiency (Disorders of protein N-glycosylation)
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 3.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
CONGENITAL DISORDER OF GLYCOSYLATION TYPE 1G (CDG1G)
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Congenital disorder of glycosylation, type Ig 607143