Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Arthrogryposis v2.91 | DPAGT1 | Rebecca Foulger Publications for gene: DPAGT1 were set to 26033833; 30653653; 22742743; 20301347 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Arthrogryposis v2.84 | DPAGT1 |
Zerin Hyder changed review comment from: 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. Contractures reported in association with congenital myaesthenic syndrome in 23447650; to: 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. |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Arthrogryposis v2.84 | DPAGT1 |
Zerin Hyder changed review comment from: 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. Contractures reported in association with congenital myaesthenic syndrome.; to: 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. Contractures reported in association with congenital myaesthenic syndrome in 23447650 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Arthrogryposis v2.84 | DPAGT1 | Zerin Hyder reviewed gene: DPAGT1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 26033833, 22786653, 30653653, 22492991; Phenotypes: Congenital disorder of glycosylation, type Ij; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Arthrogryposis v2.57 | DPAGT1 | Rebecca Foulger changed review comment from: 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.; to: 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. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Arthrogryposis v2.56 | DPAGT1 | Rebecca Foulger Classified gene: DPAGT1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Arthrogryposis v2.56 | DPAGT1 | Rebecca Foulger Added comment: 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. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Arthrogryposis v2.56 | DPAGT1 | Rebecca Foulger Gene: dpagt1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Arthrogryposis v2.55 | DPAGT1 | Rebecca Foulger 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Arthrogryposis v2.54 | DPAGT1 | Rebecca Foulger Publications for gene: DPAGT1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Arthrogryposis | DPAGT1 | Alice Gardham marked DPAGT1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Arthrogryposis | DPAGT1 | Alice Gardham classified DPAGT1 as red | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Arthrogryposis | DPAGT1 | Alice Gardham reviewed DPAGT1 |