1. Panels
  2. Fetal anomalies
  3. DPAGT1
Genes in panel
Prev Next

Fetal anomalies

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

1 review

Rebecca Foulger (Genomics England curator)

Green List (high evidence)

This gene was re-reviewed in a consistency check by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Phenotype includes cataract, microcephaly, arthrogryposis. Therefore promote DPAGT1 from Red to Green.
Created: 25 Jul 2019, 8:04 a.m. | Last Modified: 25 Jul 2019, 8:04 a.m.
Panel Version: 0.311
This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted DPAGT1 gene rating from Green to Red.
Created: 24 Mar 2019, 4:30 p.m.
DDG2P rating in original PAGE list: Confirmed for MYASTHENIC SYNDROME, CONGENITAL, WITH TUBULAR AGGREGATES 2 and Confirmed for DPAGT1-CDG.
Created: 11 Dec 2018, 9:04 a.m.
In the original PAGE file, MOP listed as LOF for MYASTHENIC SYNDROME, CONGENITAL, WITH TUBULAR AGGREGATES 2, and listed as All missense/in frame for DPAGT1-CDG.
Created: 8 Nov 2018, 4:45 p.m.
Created: 8 Nov 2018, 4:45 p.m.

Panel version: 0.311

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • MYASTHENIC SYNDROME, CONGENITAL, WITH TUBULAR AGGREGATES 2
  • DPAGT1-CDG
OMIM
191350
Clinvar variants
Variants in DPAGT1
Penetrance
None
Panels with this gene

History Filter Activity

25 Jul 2019, Gel status: 3

Added New Source, Status Update

Rebecca Foulger (Genomics England curator)

Source Expert Review Green was added to DPAGT1. Rating Changed from Red List (low evidence) to Green List (high evidence)

24 Mar 2019, Gel status: 1

Added New Source, Status Update

Rebecca Foulger (Genomics England curator)

Source Expert Review Red was added to DPAGT1. Rating Changed from Green List (high evidence) to Red List (low evidence)

8 Nov 2018, Gel status: 4

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Added phenotypes DPAGT1-CDG for gene: DPAGT1

8 Nov 2018, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Rebecca Foulger (Genomics England curator)

gene: DPAGT1 was added gene: DPAGT1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: DPAGT1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DPAGT1 were set to MYASTHENIC SYNDROME, CONGENITAL, WITH TUBULAR AGGREGATES 2