GNPTAB

N-acetylglucosamine-1-phosphate transferase alpha and beta subunits
OMIM: 607840
PanelMode of inheritanceDetails
8 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
MUCOLIPIDOSIS TYPE II 252500, MUCOLIPIDOSIS TYPE III COMPLEMENTATION GROUP A 252600
R-numbers: R21, R412
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
MUCOLIPIDOSIS TYPE II, MUCOLIPIDOSIS TYPE III COMPLEMENTATION GROUP A
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 6.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
MUCOLIPIDOSIS TYPE II (MLII)
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 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mucolipidosis, Type II, Mucolipidosis, Type III Alpha/Beta, Mucolipidosis III alpha/beta, Mucolipidosis II, I-cell disease (Other lysosomal disorders), Mucolipidosis II alpha/beta
R-numbers: R276
Signed-off version 3.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mucolipidosis II alpha/beta OMIM:252500, mucolipidosis type II MONDO:0009650, Mucolipidosis III alpha/beta OMIM:252600, mucolipidosis type III MONDO:0018931
R-numbers: R289
Signed-off version 1.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
R-numbers: R100
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
252500, Mucolipidosis II alpha/beta(I cell disease) 252500
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mucolipidosis III alpha/beta 252600, Mucolipidosis II alpha/beta 252500