DPAGT1

dolichyl-phosphate N-acetylglucosaminephosphotransferase 1
OMIM: 191350
PanelMode of inheritanceDetails
9 panels
R-numbers: R83
Signed-off version 3.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Congenital disorder of glycosylation, type Ij, 608093, Myasthenic syndrome, congenital, with tubular aggregates 2, 614750
Component of the following Super Panels:
  • - Hereditary ataxia and cerebellar anomalies - childhood onset
Signed-off version 2.4
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Congenital disorder of glycosylation, type Ij 608093, Myasthenic syndrome, congenital, 13, with tubular aggregates 614750, UDP-GlcNAc:Dol-P-GlcNac-P transferase deficiency (Disorders of protein N-glycosylation)
Component of the following Super Panels:
  • - Hypotonic infant
  • - Neuromuscular disorders
R-numbers: R80
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Congenital disorder of glycosylation, type Ij, 608093, Myasthenic syndrome, congenital, 13, with tubular aggregates, 614750, Limb girdle congenital myasthenic, tubular aggregates, congenital disorder of glycosylation type Ij (CDG-IJ)
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
MYASTHENIC SYNDROME, CONGENITAL, WITH TUBULAR AGGREGATES 2 614750, DPAGT1-CDG 300129
R-numbers: R21
Signed-off version 1.92
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
MYASTHENIC SYNDROME, CONGENITAL, WITH TUBULAR AGGREGATES 2, DPAGT1-CDG
R-numbers: R59
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Congenital disorder of glycosylation, type Ij, 608093
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R98
Signed-off version 2.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Myasthenic syndrome, congenital, 13, with tubular aggregates 614750, UDP-GlcNAc:Dol-P-GlcNac-P transferase deficiency (Disorders of protein N-glycosylation), Congenital disorder of glycosylation, type Ij 608093
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 3.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Congenital disorder of glycosylation, type Ij, 608093Myasthenic syndrome, congenital, with tubular aggregates 2, 614750, MYASTHENIC SYNDROME, CONGENITAL, WITH TUBULAR AGGREGATES 2
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Congenital disorder of glycosylation, type Ij 608093, Myasthenic syndrome, congenital, 13, with tubular aggregates 614750, UDP-GlcNAc:Dol-P-GlcNac-P transferase deficiency (Disorders of protein N-glycosylation)