DPM3

dolichyl-phosphate mannosyltransferase subunit 3
OMIM: 605951, Gene2Phenotype

12 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 12 panels
Green DPM3 in Congenital disorders of glycosylation Level 3: Specific metabolic abnormalities Level 2: Metabolic disorders Version 5.1 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 Illumina TruGenome Clinical Sequencing Services Emory Genetics Laboratory Phenotypes Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 15 612937
Amber DPM3 in Congenital muscular dystrophy Level 3: Neuromuscular disorders Level 2: Neurology and neurodevelopmental disorders Version 4.24 Latest signed off version: v4.23 (1 May 2024) Component of the following Super Panels: Hypotonic infant Other rare neuromuscular disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS London South GLH Emory Genetics Laboratory Phenotypes Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 15, OMIM:612937 ?Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 15, OMIM:618992 Tags Q1_23_promote_green Q1_23_NHS_review
Red DPM3 in Arthrogryposis Level 3: Neuromuscular disorders Level 2: Neurology and neurodevelopmental disorders Version 6.1 Latest signed off version: v6.0 (1 May 2024)	review	Not set	Sources Expert Review Red Emory Genetics Laboratory Phenotypes congenital muscular dystrophies
Amber DPM3 in Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies Level 3: Neuromuscular disorders Level 2: Neurology and neurodevelopmental disorders Version 4.33 Latest signed off version: v4.32 (1 May 2024) Component of the following Super Panels: Hypotonic infant Other rare neuromuscular disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Yorkshire and North East GLH Expert Review Phenotypes Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 15, OMIM:612937 DPM3-congenital disorder of glycosylation, MONDO:0013049 ?Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 15, OMIM:618992 muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type b, 15, MONDO:0033556 Tags Q4_22_promote_green
Red DPM3 in Skeletal dysplasia Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 5.1 Latest signed off version: v5.0 (1 May 2024) Component of the following Super Panels: Paediatric disorders	review	Unknown	Sources Expert Review Red Illumina TruGenome Clinical Sequencing Services Emory Genetics Laboratory Expert list UKGTN Radboud University Medical Center, Nijmegen Phenotypes Congenital disorder of glycosylation, type Io 612937
Green DPM3 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 Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 15 612937
Green DPM3 in Likely inborn error of metabolism - targeted testing not possible Version 5.1 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 Expert Review Green London North GLH NHS GMS Phenotypes Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 15 612937
Green DPM3 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 ?Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 15, 618992 Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 15, 612937
Green DPM3 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 Expert Review Green DD-Gene2Phenotype Phenotypes CONGENITAL DISORDER OF GLYCOSYLATION TYPE 1O 612937
Amber DPM3 in Intellectual disability Level 3: Neurodevelopmental disorders Level 2: Neurology and neurodevelopmental disorders Version 6.9 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 Amber Phenotypes CONGENITAL DISORDER OF GLYCOSYLATION TYPE 1O Tags watchlist
Red DPM3 in Childhood onset dystonia, chorea or related movement disorder Version 4.1 Latest signed off version: v4.0 (1 May 2024)	review	Not set	Sources Expert Review Red London North GLH
Green DPM3 in Severe Paediatric Disorders Version 1.184	review	BIALLELIC, autosomal or pseudoautosomal	Sources Next Generation Children Project Expert Review Green Expert list Phenotypes Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 15, 612937