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Skeletal dysplasia

Gene: DPAGT1

Green List (high evidence)

DPAGT1 (dolichyl-phosphate N-acetylglucosaminephosphotransferase 1)
EnsemblGeneIds (GRCh38): ENSG00000172269
EnsemblGeneIds (GRCh37): ENSG00000172269
OMIM: 191350, Gene2Phenotype
DPAGT1 is in 13 panels

1 review

Eleanor Williams (Genomics England Curator)

Green List (high evidence)

Comment on list classification: Changing rating from red to green. It is green on the Congenital disorders of glycosylation panel (panel ID:25, version 1.32). Decision agreed with Prof Lyn Chitty.
Created: 11 Dec 2019, 3:36 p.m. | Last Modified: 11 Dec 2019, 3:36 p.m.
Panel Version: 1.281
Adding gene to the panel from suggestion from Rhoda Akilapa. Skeletal anomalies reported including Rocker bottom feet, Bell-shaped chest, Multiple contractures, campodactily in hands,
Dorsal kyphosis, valgum feet, articular hyperlaxity (PMID: 30653653)
Sources: Expert list
Created: 11 Dec 2019, 3:34 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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)

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
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
None
Publications
Panels with this gene

History Filter Activity

11 Dec 2019, Gel status: 3

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

Gene: dpagt1 has been classified as Green List (High Evidence).

11 Dec 2019, Gel status: 1

Set publications

Eleanor Williams (Genomics England Curator)

Publications for gene: DPAGT1 were set to 12872255; 22304930

11 Dec 2019, Gel status: 1

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

Eleanor Williams (Genomics England Curator)

gene: DPAGT1 was added gene: DPAGT1 was added to Skeletal dysplasia. Sources: Expert list Mode of inheritance for gene: DPAGT1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DPAGT1 were set to 12872255; 22304930 Phenotypes for gene: DPAGT1 were set to 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) Review for gene: DPAGT1 was set to GREEN