Congenital disorders of glycosylation
Gene: GFPT1GlyGen link: https://www.glygen.org/protein_detail.html?uniprot_canonical_ac=Q06210-1Created: 9 Jan 2020, 2:36 p.m. | Last Modified: 9 Jan 2020, 2:36 p.m.
Panel Version: 2.0
Comment when marking as ready: Associated with phenotype in OMIM, not in G2P / DD. At least 6 variants reportedCreated: 19 Dec 2016, 9:49 a.m.
muscular dystrophyCreated: 12 Dec 2016, 3:09 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Publications
Promoted to V1 19th December 2016
This gene has been classified as Green List (High Evidence).
Publications for GFPT1 were set to 23569079
GFPT1 was added to Congenital disorders of glycosylationpanel. Source: UKGTN
GFPT1 was added to Congenital disorders of glycosylationpanel. Source: Radboud University Medical Center, Nijmegen Model of inheritance for gene GFPT1 was set to BIALLELIC, autosomal or pseudoautosomal
GFPT1 was added to Congenital disorders of glycosylationpanel. Source: Literature
GFPT1 was added to Congenital disorders of glycosylationpanel. Source: Illumina TruGenome Clinical Sequencing Services
GFPT1 was added to Congenital disorders of glycosylationpanel. Sources: Emory Genetics Laboratory
GFPT1 was created by sleigh