Genomics England
GMS Panels
Panels
Genes and Entities

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 3.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
MUCOLIPIDOSIS TYPE III COMPLEMENTATION GROUP C 252605
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 3.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
MUCOLIPIDOSIS TYPE III COMPLEMENTATION GROUP C
Green
in Intellectual disability - microarray and sequencing
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
MUCOLIPIDOSIS TYPE III COMPLEMENTATION GROUP C (MLIIIC)
Green
in Likely inborn error of metabolism - targeted testing not possible
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 4.0
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
Green
in Lysosomal storage disorder
R-numbers: R276
Signed-off version 3.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mucolipidosis III gamma OMIM:252605, mucolipidosis type III gamma MONDO:0009652
Green
in Retinal disorders
R-numbers: R32
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Genetic Retinal Degeneration Conditions, Mucolipidosis III gamma
Green
in Skeletal dysplasia
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mucolipidosis III gamma 252605