DPAGT1

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

13 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 13 panels
Green DPAGT1 in Arthrogryposis Level 2: Neurology and neurodevelopmental disorders Version 0.411 Component of the following Super Panels: Neuromuscular Superpanel	review	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
Green DPAGT1 in Cataract Level 2: Ophthalmological disorders Version 0.366	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Phenotypes Congenital disorder of glycosylation, type Ij, MIM# 608093 DPAGT1-CDG MONDO:0011964
Green DPAGT1 in Congenital Disorders of Glycosylation Level 2: Metabolic disorders Version 1.44 Component of the following Super Panels: Metabolic Disorders Superpanel Progressive Neurological Conditions	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Congenital disorder of glycosylation, type Ij, MIM# 608093 DPAGT1-CDG MONDO:0011964
Green DPAGT1 in Mendeliome Version 1.1891	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Congenital disorder of glycosylation, type Ij, MIM# 608093 DPAGT1-CDG MONDO:0011964 Myasthenic syndrome, congenital, 13, with tubular aggregates, MIM# 614750
Green DPAGT1 in Genetic Epilepsy Level 2: Neurology and neurodevelopmental disorders Version 1.33 Component of the following Super Panels: Progressive Neurological Conditions	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Congenital disorder of glycosylation, type Ij, MIM# 608093 DPAGT1-CDG MONDO:0011964
Green DPAGT1 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 0.6063	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Congenital disorder of glycosylation, type Ij, MIM# 608093 DPAGT1-CDG MONDO:0011964
Green DPAGT1 in Skeletal dysplasia Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 0.285	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Expert list Victorian Clinical Genetics Services 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 Congenital Myasthenia Level 2: Neurology and neurodevelopmental disorders Version 1.10 Component of the following Super Panels: Neuromuscular Superpanel	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Myasthenic syndrome, congenital, 13, with tubular aggregates, 614750 Limb girdle congenital myasthenic Congenital disorder of glycosylation, type Ij, 608093
Green DPAGT1 in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 0.109	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Myasthenic syndrome, congenital, 13, with tubular aggregates, 614750 (3)
Green DPAGT1 in Additional findings_Paediatric Level 2: Screening Version 0.278	review	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Congenital disorder of glycosylation, type Ij
Green DPAGT1 in Fetal anomalies Version 1.255	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Genetic Health Queensland Phenotypes Congenital disorder of glycosylation, type Ij, MIM# 608093 DPAGT1-CDG MONDO:0011964 Myasthenic syndrome, congenital, 13, with tubular aggregates, MIM# 614750
Green DPAGT1 in Prepair 1000+ Level 2: Screening Version 1.9	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Myasthenic syndrome, congenital, 13, with tubular aggregates, 614750 (3)
Green DPAGT1 in BabyScreen+ newborn screening Level 2: Screening Version 1.113	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green BabySeq Category A gene BeginNGS Phenotypes Congenital disorder of glycosylation, type Ij, MIM# 608093 DPAGT1-CDG MONDO:0011964 Myasthenic syndrome, congenital, 13, with tubular aggregates, MIM# 614750 Tags treatable neurological