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  3. DPAGT1
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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 14 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Fetal akinesia and AMC.
Sources: Expert list
Created: 11 Jul 2020, 4:25 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Created: 11 Jul 2020, 4:25 a.m.

Panel version: 0.103

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Congenital disorder of glycosylation, type Ij
  • Myasthenic syndrome, congenital, 13, with tubular aggregates 614750
OMIM
191350
Clinvar variants
Variants in DPAGT1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

11 Jul 2020, 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).

11 Jul 2020, 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).

11 Jul 2020, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: DPAGT1 was added gene: DPAGT1 was added to Arthrogryposis. Sources: Expert list Mode of inheritance for gene: DPAGT1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DPAGT1 were set to 26033833; 22786653; 30653653; 22492991 Phenotypes for gene: DPAGT1 were set to Congenital disorder of glycosylation, type Ij; Myasthenic syndrome, congenital, 13, with tubular aggregates 614750 Review for gene: DPAGT1 was set to GREEN