Mucopolysaccharideosis, Gaucher, Fabry

Gene: GNPTAB

Green List (high evidence)

GNPTAB (N-acetylglucosamine-1-phosphate transferase alpha and beta subunits)
EnsemblGeneIds (GRCh38): ENSG00000111670
EnsemblGeneIds (GRCh37): ENSG00000111670
OMIM: 607840, Gene2Phenotype
GNPTAB is in 15 panels

3 reviews

alisdair mcneill (Sheffield childrens hospital)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Variants in this GENE are reported as part of current diagnostic practice

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Promoted from red to green due to expert review, OMIM and is a confirmed DD gene for mucolipidosis type II.
Created: 29 Feb 2016, 6:21 p.m.

Helen Savage (Congenica Ltd)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mucolipidosis II alpha/beta; Mucolipidosis III alpha/beta

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Mucolipidosis, Type II
  • Mucolipidosis, Type III Alpha/Beta
  • Mucolipidosis II alpha/beta
  • Mucolipidosis III alpha/beta
OMIM
607840
Clinvar variants
Variants in GNPTAB
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

29 Feb 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

29 Feb 2016, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for GNPTAB were set to Mucolipidosis, Type II; Mucolipidosis, Type III Alpha/Beta; Mucolipidosis II alpha/beta; Mucolipidosis III alpha/beta

29 Feb 2016, Gel status: 4

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for GNPTAB were set to PMID: 16116615; 16200072; 16630736

29 Feb 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

3 Aug 2015, Gel status: 1

Added New Source

Eik Haraldsdottir (Genomics England)

GNPTAB was added to Mucopolysaccharideosis, Gaucher, Fabrypanel. Sources: Illumina TruGenome Clinical Sequencing Services