MPDU1

mannose-P-dolichol utilization defect 1
OMIM: 604041, Gene2Phenotype

9 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 9 panels
Green MPDU1 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 If, MIM# 609180 MPDU1-CDG, MONDO:0012211
Green MPDU1 in Mendeliome Version 1.1902	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Congenital disorder of glycosylation, type If, MIM# 609180 MPDU1-CDG, MONDO:0012211
Green MPDU1 in Muscular dystrophy and myopathy_Paediatric Level 2: Neurology and neurodevelopmental disorders Version 1.33 Component of the following Super Panels: Myopathy Superpanel Neuromuscular Superpanel	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Phenotypes Congenital disorder of glycosylation, type If, MIM# 609180 MPDU1-CDG, MONDO:0012211
Green MPDU1 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 If, MIM# 609180 MPDU1-CDG, MONDO:0012211
Green MPDU1 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 If, MIM# 609180 MPDU1-CDG, MONDO:0012211
Green MPDU1 in Skeletal dysplasia Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 0.285	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen NHS GMS Expert list Emory Genetics Laboratory Victorian Clinical Genetics Services Phenotypes Congenital disorder of glycosylation, type If, MIM# 609180 MPDU1-CDG, MONDO:0012211
Green MPDU1 in Additional findings_Paediatric Level 2: Screening Version 0.278	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green BabySeq Category C gene Phenotypes Congenital disorder of glycosylation, type If, MIM# 609180 MPDU1-CDG, MONDO:0012211
Green MPDU1 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 If, MIM# 609180 MPDU1-CDG, MONDO:0012211
Red MPDU1 in BabyScreen+ newborn screening Level 2: Screening Version 1.114	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BabySeq Category C gene Phenotypes MPDU1-CDG, MONDO:0012211 Congenital disorder of glycosylation, type If, MIM# 609180