Arthrogryposis
Gene: DPAGT1EnsemblGeneIds (GRCh38): ENSG00000172269
EnsemblGeneIds (GRCh37): ENSG00000172269
OMIM: 191350, Gene2Phenotype
DPAGT1 is in 11 panels
3 reviews
Zerin Hyder (Genomics England)
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)
Only small numbers reported and none with arthrogryposisCreated: 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
-
- Expert Review Green
- 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
-
- Arthrogryposis
- Intellectual disability
- Fetal anomalies
- Undiagnosed metabolic disorders
- Skeletal dysplasia
- Congenital myaesthenic syndrome
- Congenital disorders of glycosylation
- Childhood onset dystonia, chorea or related movement disorder
- Likely inborn error of metabolism
- Early onset or syndromic epilepsy
- DDG2P
History Filter Activity
Set publications
Rebecca Foulger (Genomics England curator)Publications for gene: DPAGT1 were set to 26033833; 30653653; 22742743; 20301347
Entity classified by Genomics England curator
Rebecca Foulger (Genomics England curator)Gene: dpagt1 has been classified as Green List (High Evidence).
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
Set publications
Rebecca Foulger (Genomics England curator)Publications for gene: DPAGT1 were set to
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.
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Red List (Low Evidence).
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Red List (Low Evidence).
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
Added New Source
Ellen McDonagh (Genomics England Curator)DPAGT1 was added to Arthrogryposispanel. Sources: Expert list
Created
Ellen McDonagh (Genomics England Curator)DPAGT1 was created by ellenmcdonagh