1. Panels
  2. Mucopolysaccharideosis, Gaucher, Fabry
  3. GNPTAB
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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

Created: 1 Jul 2016, 8:02 a.m.

Panel version: Imported from "Coarse facial features including Coffin-Siris-like disorders" panel version 0.38

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.
Created: 29 Feb 2016, 6:21 p.m.

Panel version: 0.22

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

Created: 10 Feb 2016, 12:49 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 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