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  3. DPAGT1
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Congenital disorders of glycosylation

Gene: DPAGT1

Green List (high evidence)
DPAGT1 (dolichyl-phosphate N-acetylglucosaminephosphotransferase 1)
EnsemblGeneIds (GRCh38): ENSG00000172269
EnsemblGeneIds (GRCh37): ENSG00000172269
OMIM: 191350, Gene2Phenotype
DPAGT1 is in 11 panels

3 reviews

Rebecca Foulger (Genomics England curator)

GlyGen link: https://www.glygen.org/protein_detail.html?uniprot_canonical_ac=Q9H3H5-1
Created: 9 Jan 2020, 2:30 p.m. | Last Modified: 9 Jan 2020, 2:30 p.m.
Panel Version: 2.0
Created: 9 Jan 2020, 2:30 p.m.
Last Modified: 9 Jan 2020, 2:30 p.m.
Panel version: 2.0

Sarah Leigh (Genomics England Curator)

GlyGen link updated April 2021: https://www.glygen.org/protein/Q9H3H5-1#Disease
Created: 8 Apr 2021, 11:54 a.m. | Last Modified: 8 Apr 2021, 11:54 a.m.
Panel Version: 2.66
Comment when marking as ready: Associated with phenotype in OMIM and as a confirmed Developmental Disorder Gene / G2P. At least 6 variants reported in congenital disorder of glycosylation, type Ij 608093
Created: 15 Dec 2016, 4:29 p.m.
Created: 15 Dec 2016, 4:29 p.m.

Panel version: 2.66

Daniel Ungar (University of York, Department of Biology)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

Created: 12 Dec 2016, 2:11 p.m.

Panel version: 0.5

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
  • Congenital disorder of glycosylation, type Ij 608093
  • Myasthenic syndrome, congenital, 13, with tubular aggregates 614750
  • UDP-GlcNAc:Dol-P-GlcNac-P transferase deficiency (Disorders of protein N-glycosylation)
OMIM
191350
Clinvar variants
Variants in DPAGT1
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

11 Dec 2019, Gel status: 3

Set publications

Eleanor Williams (Genomics England Curator)

Publications for gene: DPAGT1 were set to 12872255; 22304930

19 Dec 2016, Gel status: 4

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

Promoted to V1 19th December 2016

15 Dec 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).

15 Dec 2016, Gel status: 4

Set publications

Sarah Leigh (Genomics England Curator)

Publications for DPAGT1 were set to 12872255; 22304930

1 Dec 2016, Gel status: 4

Added New Source

Sarah Leigh (Genomics England Curator)

DPAGT1 was added to Congenital disorders of glycosylationpanel. Source: UKGTN

1 Dec 2016, Gel status: 3

Added New Source

Sarah Leigh (Genomics England Curator)

DPAGT1 was added to Congenital disorders of glycosylationpanel. Source: Radboud University Medical Center, Nijmegen

1 Dec 2016, Gel status: 2

Set Mode of Inheritance, Added New Source

Sarah Leigh (Genomics England Curator)

DPAGT1 was added to Congenital disorders of glycosylationpanel. Source: Literature Model of inheritance for gene DPAGT1 was set to BIALLELIC, autosomal or pseudoautosomal

1 Dec 2016, Gel status: 2

Added New Source

Sarah Leigh (Genomics England Curator)

DPAGT1 was added to Congenital disorders of glycosylationpanel. Source: Illumina TruGenome Clinical Sequencing Services

1 Dec 2016, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

DPAGT1 was created by sleigh

1 Dec 2016, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

DPAGT1 was added to Congenital disorders of glycosylationpanel. Sources: Emory Genetics Laboratory