Fetal anomalies
Gene: DPAGT1

DPAGT1 (dolichyl-phosphate N-acetylglucosaminephosphotransferase 1)
EnsemblGeneIds (GRCh38): ENSG00000172269
EnsemblGeneIds (GRCh37): ENSG00000172269
OMIM: 191350, Gene2Phenotype
DPAGT1 is in 14 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Type I CDG. More than 20 unrelated families reported. Most affected individuals have a very severe disease course, where common findings are pronounced muscular hypotonia, intractable epilepsy, global developmental delay/intellectual disability, and early death. Additional features that may be observed include apnoea and respiratory deficiency, cataracts, joint contractures, vermian hypoplasia, dysmorphic features (esotropia, arched palate, micrognathia, finger clinodactyly, single flexion creases) and feeding difficulties.

Myasthenic syndrome, congenital, 13, with tubular aggregates, MIM 614750 is a milder allelic disorder. More than 5 unrelated families reported with this presentation.
Created: 19 Dec 2020, 2:50 a.m. | Last Modified: 6 Dec 2021, 9:58 a.m.

Panel Version: 0.1077

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Congenital disorder of glycosylation, type Ij, MIM# 608093; DPAGT1-CDG MONDO:0011964; Myasthenic syndrome, congenital, 13, with tubular aggregates, MIM# 614750

Publications

Created: 19 Dec 2020, 2:50 a.m.
Last Modified: 6 Dec 2021, 9:58 a.m.
Panel version: 0.1077

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Genomics England PanelApp
Genetic Health Queensland

Phenotypes

Congenital disorder of glycosylation, type Ij, MIM# 608093
DPAGT1-CDG MONDO:0011964
Myasthenic syndrome, congenital, 13, with tubular aggregates, MIM# 614750

OMIM

191350

Clinvar variants

Variants in DPAGT1

Penetrance

None

Publications

Panels with this gene