DPAGT1

dolichyl-phosphate N-acetylglucosaminephosphotransferase 1
OMIM: 191350, Gene2Phenotype

12 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 12 panels
Green DPAGT1 in Congenital disorders of glycosylation Level 3: Specific metabolic abnormalities Level 2: Metabolic disorders Version 5.3 Latest signed off version: v5.0 (1 May 2024) Component of the following Super Panels: Hereditary ataxia and cerebellar anomalies - childhood onset	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green UKGTN Radboud University Medical Center, Nijmegen Literature Illumina TruGenome Clinical Sequencing Services Emory Genetics Laboratory 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)
Green DPAGT1 in Arthrogryposis Level 3: Neuromuscular disorders Level 2: Neurology and neurodevelopmental disorders Version 6.3 Latest signed off version: v6.0 (1 May 2024)	review	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
Green DPAGT1 in Congenital myaesthenic syndrome Level 3: Neuromuscular disorders Level 2: Neurology and neurodevelopmental disorders Version 4.6 Latest signed off version: v4.5 (1 May 2024) Component of the following Super Panels: Hypotonic infant Other rare neuromuscular disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Wessex and West Midlands GLH Expert Review Green UKGTN Radboud University Medical Center, Nijmegen Phenotypes Myasthenic syndrome, congenital, 13, with tubular aggregates, OMIM:614750
Green DPAGT1 in Skeletal dysplasia Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 5.3 Latest signed off version: v5.0 (1 May 2024) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list 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)
Green DPAGT1 in Undiagnosed metabolic disorders Level 3: Specific metabolic abnormalities Level 2: Metabolic disorders Version 1.617	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes UDP-GlcNAc:Dol-P-GlcNac-P transferase deficiency (Disorders of protein N-glycosylation) 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)
Green DPAGT1 in Likely inborn error of metabolism - targeted testing not possible Version 5.3 Latest signed off version: v5.0 (1 May 2024) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders Unexplained death in infancy and sudden unexplained death in childhood	review	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green 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
Green DPAGT1 in Fetal anomalies Version 4.1 Latest signed off version: v4.0 (1 May 2024)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green PAGE DD-Gene2Phenotype Phenotypes MYASTHENIC SYNDROME, CONGENITAL, WITH TUBULAR AGGREGATES 2 DPAGT1-CDG
Green DPAGT1 in DDG2P Version 4.3 Latest signed off version: v4.0 (1 May 2024) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MYASTHENIC SYNDROME, CONGENITAL, WITH TUBULAR AGGREGATES 2 614750 DPAGT1-CDG 300129
Green DPAGT1 in Early onset or syndromic epilepsy Level 3: Inherited Epilepsy Syndromes Level 2: Neurology and neurodevelopmental disorders Version 5.10 Latest signed off version: v5.0 (1 May 2024) Component of the following Super Panels: Paediatric disorders Unexplained death in infancy and sudden unexplained death in childhood	review	BIALLELIC, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH NHS GMS Expert Review Green Victorian Clinical Genetics Services Phenotypes Congenital disorder of glycosylation, type Ij, 608093
Green DPAGT1 in Intellectual disability Level 3: Neurodevelopmental disorders Level 2: Neurology and neurodevelopmental disorders Version 6.13 Latest signed off version: v6.0 (1 May 2024) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Congenital disorder of glycosylation, type Ij, 608093Myasthenic syndrome, congenital, with tubular aggregates 2, 614750 MYASTHENIC SYNDROME, CONGENITAL, WITH TUBULAR AGGREGATES 2
Red DPAGT1 in Childhood onset dystonia, chorea or related movement disorder Version 4.3 Latest signed off version: v4.0 (1 May 2024)	review	Not set	Sources Expert Review Red London North GLH
Green DPAGT1 in Severe Paediatric Disorders Version 1.184	review	BIALLELIC, autosomal or pseudoautosomal	Sources Next Generation Children Project Expert Review Green Expert list Phenotypes Myasthenic syndrome, congenital, 13, with tubular aggregates, 614750 Congenital disorder of glycosylation, type Ij, 608093