Arthrogryposis
Gene: DPAGT1
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
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
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
Publications for gene: DPAGT1 were set to 26033833; 30653653; 22742743; 20301347
Gene: dpagt1 has been classified as Green List (High Evidence).
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
Publications for gene: DPAGT1 were set to
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.
This gene has been classified as Red List (Low Evidence).
This gene has been classified as Red List (Low Evidence).
DPAGT1 was added to Arthrogryposispanel. Source: Radboud University Medical Center, Nijmegen DPAGT1 was added to Arthrogryposispanel. Source: UKGTN
DPAGT1 was added to Arthrogryposispanel. Sources: Expert list
DPAGT1 was created by ellenmcdonagh