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Skeletal dysplasia

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

4 reviews

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, 11:44 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mucolipidosis II alpha/beta 252500; Mucolipidosis III alpha/beta 252600

Eleanor Williams (Genomics England Curator)

I don't know

This gene was part of an initial gene list collated by Tracy Lester, Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, February 2019 on behalf of the GMS Musculoskeletal Specialist Group; Gene symbol submitted: GNPTAB; Initial rating suggestion: green
Created: 6 Mar 2019, 11:36 a.m.

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotype in OMIM and G2P. Numerous variants reported
Created: 28 Jul 2016, 1:28 p.m.

Ana Beleza (Bristol Regional Genetics Service)

Green List (high evidence)

Tier 2
Created: 17 Jun 2016, 8:04 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mucolipidosis II alpha/beta 252500

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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
  • Expert list
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Mucolipidosis III alpha/beta 252600
  • Mucolipidosis II alpha/beta 252500
OMIM
607840
Clinvar variants
Variants in GNPTAB
Penetrance
Complete
Panels with this gene

History Filter Activity

6 May 2019, Gel status: 4

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Added phenotypes Mucolipidosis III alpha/beta 252600; Mucolipidosis II alpha/beta 252500 for gene: GNPTAB

6 Mar 2019, Gel status: 3

Added New Source, Status Update

Eleanor Williams (Genomics England Curator)

Source NHS GMS was added to GNPTAB. Rating Changed from Green List (high evidence) to Green List (high evidence)

9 Aug 2016, Gel status: 4

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

Promoted to version 1 9th August 2016

28 Jul 2016, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

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

28 Jul 2016, Gel status: 4

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for GNPTAB were set to Mucolipidosis II alpha/beta 252500; Mucolipidosis III alpha/beta 252600

28 Jul 2016, Gel status: 4

Upload gene information

Sarah Leigh (Genomics England Curator)

GNPTAB was added to Unexplained skeletal dysplasiapanel. Sources: Emory Genetics Laboratory,Expert list,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN

28 Jul 2016, Gel status: 1

clearsources

Sarah Leigh (Genomics England Curator)

GNPTABAll sources for gene: GNPTAB were removed

28 Jul 2016, Gel status: 1

Upload gene information

Sarah Leigh (Genomics England Curator)

GNPTAB was added to Unexplained skeletal dysplasiapanel. Sources: Expert list,Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN

18 May 2016, Gel status: 1

Set Mode of Inheritance, Added New Source

Sarah Leigh (Genomics England Curator)

GNPTAB was added to Unexplained skeletal dysplasiapanel. Source: Expert Review GNPTAB was added to Unexplained skeletal dysplasiapanel. Source: Expert Review Red Model of inheritance for gene GNPTAB was set to BIALLELIC, autosomal or pseudoautosomal

18 May 2016, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

GNPTAB was created by sleigh

18 May 2016, Gel status: 0

Added New Source

Sarah Leigh (Genomics England Curator)

GNPTAB was added to Unexplained skeletal dysplasiapanel. Sources: