GMS Musculoskeletal specialist test group Skeletal dysplasia
Gene: GNPTG

GNPTG (N-acetylglucosamine-1-phosphate transferase gamma subunit)
EnsemblGeneIds (GRCh38): ENSG00000090581
EnsemblGeneIds (GRCh37): ENSG00000090581
OMIM: 607838, Gene2Phenotype
GNPTG is in 11 panels

1 review

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

Lysosomal storage diseases with skeletal involvement (dysostosis multiplex gp of SD) - several cases; Review on behalf of Tracy Lester
Created: 6 Mar 2019, 11:52 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mucolipidosis III gamma 252605

Created: 6 Mar 2019, 11:52 a.m.

Panel version: 0.2

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
NHS GMS

Phenotypes

Mucolipidosis III gamma 252605

OMIM

607838

Clinvar variants

Variants in GNPTG

Penetrance

None

Panels with this gene

History Filter Activity

6 Mar 2019, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Eleanor Williams (Genomics England Curator)

gene: GNPTG was added gene: GNPTG was added to GMS Musculoskeletal specialist test group Skeletal dysplasia. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: GNPTG was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GNPTG were set to Mucolipidosis III gamma 252605

GMS Musculoskeletal specialist test group Skeletal dysplasia Gene: GNPTG