GMS Musculoskeletal specialist test group Skeletal dysplasia
Gene: GNPTAB

GNPTAB (N-acetylglucosamine-1-phosphate transferase alpha and beta subunits)
EnsemblGeneIds (GRCh38): ENSG00000111670
EnsemblGeneIds (GRCh37): ENSG00000111670
OMIM: 607840, Gene2Phenotype
GNPTAB is in 15 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 II alpha/beta 252500; Mucolipidosis III alpha/beta 252600

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 alpha/beta 252600
Mucolipidosis II alpha/beta 252500

OMIM

607840

Clinvar variants

Variants in GNPTAB

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: GNPTAB was added gene: GNPTAB was added to GMS Musculoskeletal specialist test group Skeletal dysplasia. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: GNPTAB was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GNPTAB were set to Mucolipidosis III alpha/beta 252600; Mucolipidosis II alpha/beta 252500

GMS Musculoskeletal specialist test group Skeletal dysplasia Gene: GNPTAB