Craniosynostosis

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 14 panels

4 reviews

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

Ho et al report an infant case with MSS CSS and mutation in GNPTAB. Other cases in the literature have not been molecularly confirmed? Refs 81-84 in Twigg & Wilkie. Unpublished Oxford case. GeneReviews don't mention CSS - 'skull relatively normal CSS is regularly suspected but not formally confirmed'. Amber or green? added by GOSH: Cathey et al (2010) reported 14 ML II patients with craniofacial and/or skeletal abnormalities noted on the first day of life. GNPTAB pathogenic mutations identified and characterised. Alfadhel et al (2013) reported three ML II unrelated Saudi children with neonatal hyperparathyroidism, microcephaly, craniosynostosis, coarse facial features, cardiac involvement, and skeletal deformities. ; Review on behalf of Tracy Lester/Andrew Wilkie/GOSH
Created: 5 Mar 2019, 11:33 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mucolipidosis II alpha/beta(I cell disease) - 252500

Publications

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; Suggested initial gene rating: green
Created: 5 Mar 2019, 11:21 a.m.

Richard Scott (Genomics England Curator)

Comment when marking as ready: Craniosynostosis is a recognised complication of I-cell disease but diagnosis requires other clinical features to be present and should be confirmed biochemically
Created: 1 Feb 2016, 11:13 a.m.

Andrew Wilkie (University of Oxford)

Green List (high evidence)

Craniosynostosis is a recognised complication of I-cell disease but diagnosis requires other clinical features to be present and should be confirmed biochemically
Created: 14 Sep 2015, 3:21 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
I-cell disease

Publications

History Filter Activity

11 May 2019, Gel status: 4

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Added phenotypes Mucolipidosis II alpha/beta(I cell disease) 252500 for gene: GNPTAB

5 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)

1 Feb 2016, Gel status: 4

Gene classified by Genomics England curator

Richard Scott (Genomics England Curator)

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

1 Feb 2016, Gel status: 4

Set Phenotypes

Richard Scott (Genomics England Curator)

Phenotypes for GNPTAB were set to 252500

1 Feb 2016, Gel status: 4

Set publications

Richard Scott (Genomics England Curator)

Publications for GNPTAB were set to 24891900

1 Feb 2016, Gel status: 4

Set Mode of Inheritance

Richard Scott (Genomics England Curator)

Mode of inheritance for GNPTAB was changed to BIALLELIC, autosomal or pseudoautosomal

1 Feb 2016, Gel status: 4

Gene classified by Genomics England curator

Richard Scott (Genomics England Curator)

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

27 Jul 2015, Gel status: 0

Added New Source

Eik Haraldsdottir (Genomics England)

GNPTAB was added to Craniosynostosis syndromespanel. Sources: Expert list