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BabyScreen+ newborn screening

Gene: DPAGT1

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

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Bi-allelic variants cause either multi-system CDG or congenital myasthenia gravis.

Difficult to predict phenotype from genotype but MG may be responsive to treatment.

Phenotype may already be apparent in newborn period so clinical correlation possible.
Created: 10 Oct 2022, 9:28 a.m. | Last Modified: 26 Oct 2022, 10:24 p.m.
Panel Version: 0.673

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

Created: 10 Oct 2022, 9:28 a.m.
Last Modified: 26 Oct 2022, 10:24 p.m.
Panel version: 0.540

John Christodoulou (Murdoch Children's Research Institute)

I don't know

biallelic mutations cause CDG type 1j - abnormal transferrin isoforms; no treatment available

biallelic mutations can also cause a congenital myasthenia syndrome that is responsive to Acetylcholine-esterase inhibitors, 3,4-diaminopyridine (see: www.ncbi.nlm.nih.gov/books/NBK1168/#cms.Summary)

worth discussion?
Created: 10 Oct 2022, 6:45 a.m. | Last Modified: 10 Oct 2022, 6:45 a.m.
Panel Version: 0.523

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Created: 10 Oct 2022, 6:45 a.m.
Last Modified: 10 Oct 2022, 6:45 a.m.
Panel version: 0.523

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • BabySeq Category A gene
  • BeginNGS
Phenotypes
  • Congenital disorder of glycosylation, type Ij, MIM# 608093
  • DPAGT1-CDG MONDO:0011964
  • Myasthenic syndrome, congenital, 13, with tubular aggregates, MIM# 614750
Tags
treatable neurological
OMIM
191350
Clinvar variants
Variants in DPAGT1
Penetrance
None
Panels with this gene

History Filter Activity

27 Dec 2022, Gel status: 3

Added Tag, Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag treatable tag was added to gene: DPAGT1. Tag neurological tag was added to gene: DPAGT1.

26 Oct 2022, Gel status: 3

Removed Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag for review was removed from gene: DPAGT1.

10 Oct 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

10 Oct 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

10 Oct 2022, Gel status: 3

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag for review tag was added to gene: DPAGT1.

18 Sep 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: DPAGT1 was added gene: DPAGT1 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: DPAGT1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DPAGT1 were set to Congenital disorder of glycosylation, type Ij, MIM#614750