Genes in panel
STRs in panel
Prev Next
Regions in panel
Prev Next

Intellectual_disability

Gene: DPAGT1

Red List (low evidence)

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

0 reviews

Details

Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Congenital disorder of glycosylation, type Ij, 608093Myasthenic syndrome, congenital, with tubular aggregates 2, 614750
OMIM
191350
Clinvar variants
Variants in DPAGT1
Penetrance
Complete
Panels with this gene

History Filter Activity

8 Oct 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

DPAGT1 was added to Intellectual_disabilitypanel. Sources: Radboud University Medical Center, Nijmegen