Congenital disorders of glycosylation
Gene: GFPT1

GFPT1 (glutamine--fructose-6-phosphate transaminase 1)
EnsemblGeneIds (GRCh38): ENSG00000198380
EnsemblGeneIds (GRCh37): ENSG00000198380
OMIM: 138292, Gene2Phenotype
GFPT1 is in 8 panels

3 reviews

Rebecca Foulger (Genomics England curator)

GlyGen link: https://www.glygen.org/protein_detail.html?uniprot_canonical_ac=Q06210-1
Created: 9 Jan 2020, 2:36 p.m. | Last Modified: 9 Jan 2020, 2:36 p.m.

Panel Version: 2.0

Created: 9 Jan 2020, 2:36 p.m.
Last Modified: 9 Jan 2020, 2:36 p.m.
Panel version: 2.0

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotype in OMIM, not in G2P / DD. At least 6 variants reported
Created: 19 Dec 2016, 9:49 a.m.

Created: 19 Dec 2016, 9:49 a.m.

Panel version: 0.75

Daniel Ungar (University of York, Department of Biology)

Green List (high evidence)

muscular dystrophy
Created: 12 Dec 2016, 3:09 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

23569079

Created: 12 Dec 2016, 3:09 p.m.

Panel version: 0.7

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
UKGTN
Radboud University Medical Center, Nijmegen
Literature
Illumina TruGenome Clinical Sequencing Services
Emory Genetics Laboratory

Phenotypes

Myasthenia, congenital, 12, with tubular aggregates(Disorders of protein N-glycosylation) 610542

OMIM

138292

Clinvar variants

Variants in GFPT1

Penetrance

Complete

Publications

23569079

Panels with this gene