Mucopolysaccharideosis, Gaucher, Fabry
Gene: GNPTG

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

2 reviews

Ellen McDonagh (Genomics England Curator)

Comment on mode of inheritance: Confirmed on G2P and OMIM.
Created: 29 Feb 2016, 6:24 p.m.

Comment on list classification: Promoted from red to green due to expert review, information on OMIM, and is a confirmed DD gene for mucolipidpsis type III complementation group C.
Created: 29 Feb 2016, 6:23 p.m.

Created: 29 Feb 2016, 6:23 p.m.

Panel version: 0.25

Helen Savage (Congenica Ltd)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mucolipidosis III gamma

Publications

Created: 10 Feb 2016, 12:52 p.m.

Panel version: 0.0

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Illumina TruGenome Clinical Sequencing Services

Phenotypes

Mucolipidosis, Type III Gamma
Mucolipidosis III gamma
mucolipidpsis type III complementation group C

OMIM

607838

Clinvar variants

Variants in GNPTG

Penetrance

Complete

Publications

Panels with this gene