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Arthrogryposis

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

3 reviews

Zerin Hyder (Genomics England)

Green List (high evidence)

Green gene on neuromuscular arthrogryposis panel.
Ganetzky et al, 2015: Newborn female with arthrogryposis multiplex due to fetal akinesia. Transferrin isoelectric focusing was suggestive of a type I congenital disorder of glycosylation; sequencing revealed homozygous missense mutation in DPAGT1.
Carrera et al: DPAGT1-CDG in patient with fetal hypokinesia and AMC.
Multiple joint contractures reported in association with congenital myaesthenic syndrome and DPAGT1 mutations.
Created: 27 Nov 2019, 1:04 p.m. | Last Modified: 27 Nov 2019, 1:09 p.m.
Panel Version: 2.84

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Congenital disorder of glycosylation, type Ij

Publications

Rebecca Foulger (Genomics England curator)

Comment on list classification: Updated DPAGT1 from Red to Green on advice from Zerin Hyder (Genomics England Clinical Team), and additional evidence from PMID: 26033833 and PMID:30653653. DPAGT1 is also Green on the 'Neuromuscular arthrogryposis' v0.21 panel.
Created: 26 Nov 2019, 1:25 p.m. | Last Modified: 26 Nov 2019, 1:46 p.m.
Panel Version: 2.57

Alice Gardham (Genomics England)

Red List (low evidence)

Only small numbers reported and none with arthrogryposis
Created: 4 Jan 2017, 12:32 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Myasthenic syndrome, congenital, 13, with tubular aggregates 614750; Congenital disorder of glycosylation, type Ij 608093

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Expert list
Phenotypes
  • Congenital disorder of glycosylation, type Ij, 608093
  • Myasthenic syndrome, congenital, with tubular aggregates 2, 614750
OMIM
191350
Clinvar variants
Variants in DPAGT1
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

27 Nov 2019, Gel status: 3

Set publications

Rebecca Foulger (Genomics England curator)

Publications for gene: DPAGT1 were set to 26033833; 30653653; 22742743; 20301347

26 Nov 2019, Gel status: 3

Entity classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

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

26 Nov 2019, Gel status: 1

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Phenotypes for gene: DPAGT1 were changed from Congenital disorder of glycosylation, type Ij, 608093Myasthenic syndrome, congenital, with tubular aggregates 2, 614750 to Congenital disorder of glycosylation, type Ij, 608093; Myasthenic syndrome, congenital, with tubular aggregates 2, 614750

26 Nov 2019, Gel status: 1

Set publications

Rebecca Foulger (Genomics England curator)

Publications for gene: DPAGT1 were set to

16 Jan 2017, Gel status: 1

panel promoted to version 2

Ellen McDonagh (Genomics England Curator)

16th Jan 2016: This gene panel was extensively revised with the addition of 101 green genes and review by Alice Gardham. Due to this extensive change to the panel, the decision was made to promote it to the next major version, version 2.

5 Jan 2017, Gel status: 1

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Red List (Low Evidence).

5 Jan 2017, Gel status: 1

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Red List (Low Evidence).

21 Dec 2016, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

DPAGT1 was added to Arthrogryposispanel. Source: Radboud University Medical Center, Nijmegen DPAGT1 was added to Arthrogryposispanel. Source: UKGTN

21 Dec 2016, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

DPAGT1 was added to Arthrogryposispanel. Sources: Expert list

21 Dec 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

DPAGT1 was created by ellenmcdonagh