GNPTG

N-acetylglucosamine-1-phosphate transferase gamma subunit
OMIM: 607838
PanelMode of inheritanceDetails
7 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
MUCOLIPIDOSIS TYPE III COMPLEMENTATION GROUP C 252605
R-numbers: R21
Signed-off version 1.92
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
MUCOLIPIDOSIS TYPE III COMPLEMENTATION GROUP C
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
Mucolipidosis III, Pseudo-Hurler polydystrophy (Other lysosomal disorders), mucolipidpsis type III complementation group C, Mucolipidosis, Type III Gamma, Mucolipidosis III gamma
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
MUCOLIPIDOSIS TYPE III COMPLEMENTATION GROUP C (MLIIIC)
R-numbers: R276
Signed-off version 1.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mucolipidosis III gamma 252605
R-numbers: R32, R33, R34, R35
Signed-off version 2.195
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Genetic Retinal Degeneration Conditions, Mucolipidosis III gamma
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mucolipidosis III gamma 252605