DNM2

dynamin 2
OMIM: 602378, Gene2Phenotype

15 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 15 panels
Green DNM2 in Distal myopathies Level 3: Neuromuscular disorders Level 2: Neurology and neurodevelopmental disorders Version 1.31 Latest signed off version: v1.21 (11 Nov 2020) Component of the following Super Panels: Hypotonic infant Neuromuscular disorders	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Phenotypes Myopathy, centronuclear, 160150
Green DNM2 in Neuromuscular disorders Version 5.243 Latest signed off version: v5.43 (4 Mar 2020)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Phenotypes Charcot-Marie-Tooth disease, axonal, type 2M, 606482 Myopathy, centronuclear, 160150 Myopathy, centronuclear,
Green DNM2 in Mitochondrial DNA maintenance disorder Version 1.4 Latest signed off version: v1.2 (17 Feb 2020)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources NHS GMS Expert Review Green Phenotypes Charcot-Marie-Tooth disease, dominant intermediate B, 606482 Charcot-Marie-Tooth disease, axonal type 2M, 606482 Centronuclear myopathy 1, 160150
Green DNM2 in Arthrogryposis Level 3: Neuromuscular disorders Level 2: Neurology and neurodevelopmental disorders Version 3.130 Latest signed off version: v3.2 (13 Feb 2020)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert UKGTN Radboud University Medical Center, Nijmegen Illumina TruGenome Clinical Sequencing Services Expert list Phenotypes Lethal congenital contracture syndrome 5 615368
Green DNM2 in Congenital myopathy Level 3: Neuromuscular disorders Level 2: Neurology and neurodevelopmental disorders Version 2.59 Latest signed off version: v2.2 (2 Mar 2020) Component of the following Super Panels: Hypotonic infant Neuromuscular disorders	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources NHS GMS London South GLH Expert Review Green Expert Radboud University Medical Center, Nijmegen UKGTN Illumina TruGenome Clinical Sequencing Services Phenotypes Myopathy, centronuclear, 160150 Charcot-Marie-Tooth disease, axonal, type 2M, 606482 Tags missense
Red DNM2 in Limb girdle muscular dystrophy Level 3: Neuromuscular disorders Level 2: Neurology and neurodevelopmental disorders Version 2.29 Latest signed off version: v2.4 (2 Mar 2020) Component of the following Super Panels: Hypotonic infant Neuromuscular disorders	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red NHS GMS Yorkshire and North East GLH Expert Review Phenotypes Centronuclear myopathy 1, 160150 Centronuclear myopathy
Green DNM2 in Undiagnosed metabolic disorders Level 3: Specific metabolic abnormalities Level 2: Metabolic disorders Version 1.486	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Other Phenotypes Centronuclear myopathy 1 160150 Charcot-Marie-Tooth disease, axonal type 2M 606482 Charcot-Marie-Tooth disease, dominant intermediate B 606482
Green DNM2 in Inborn errors of metabolism Version 2.188 Latest signed off version: v2.3 (17 Feb 2020) Component of the following Super Panels: Hypotonic infant Paediatric disorders White matter disorders - childhood onset	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Centronuclear myopathy 1 160150 Charcot-Marie-Tooth disease, axonal type 2M 606482 Charcot-Marie-Tooth disease, dominant intermediate B 606482
Green DNM2 in Possible mitochondrial disorder - nuclear genes Version 1.53 Latest signed off version: v1.17 (11 Nov 2020)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green NHS GMS Phenotypes Charcot-Marie-Tooth disease, dominant intermediate B, 606482 Charcot-Marie-Tooth disease, axonal type 2M, 606482 Centronuclear myopathy 1, 160150
Amber DNM2 in Fetal anomalies Version 1.735 Latest signed off version: v1.92 (21 Aug 2020)	review	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Amber Expert list Phenotypes Lethal congenital contracture syndrome 5, 615368 Tags for-review
Green DNM2 in Hereditary neuropathy Level 3: Motor and Sensory Disorders of the PNS Level 2: Neurology and neurodevelopmental disorders Version 1.417	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources South West GLH NHS GMS London North GLH Expert Review Green Emory Genetics Laboratory UKGTN Expert list Radboud University Medical Center, Nijmegen Illumina TruGenome Clinical Sequencing Services Phenotypes Charcot Marie Tooth disease, dominant intermediate B, 606482 Myopathy, centronuclear, 160150 Myopathy, centronuclear, 160150 Lethal congenital contracture syndrome 5, 615368 Charcot Marie Tooth disease, axonal, type 2M, 606482 Charcot-Marie-Tooth, Intermediate Lethal congenital contracture syndrome 5, 615368 Charcot Marie Tooth disease, axonal, type 2M, 606482 Charcot-Marie-Tooth, Intermediate
Red DNM2 in Intellectual disability Level 3: Neurodevelopmental disorders Level 2: Neurology and neurodevelopmental disorders Version 3.1378 Latest signed off version: v3.2 (13 Feb 2020) Component of the following Super Panels: Hypotonic infant Paediatric disorders White matter disorders - childhood onset	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Charcot Marie Tooth disease, axonal, type 2M, 606482 Charcot Marie Tooth disease, dominant intermediate B, 606482
Green DNM2 in Mitochondrial disorders Level 3: Mitochondrial Level 2: Metabolic disorders Version 2.54 Latest signed off version: v2.4 (17 Feb 2020) Component of the following Super Panels: White matter disorders - childhood onset	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green NHS GMS Expert list Phenotypes Centronuclear myopathy 1, 160150 Charcot-Marie-Tooth disease, axonal type 2M, 606482 Charcot-Marie-Tooth disease, dominant intermediate B, 606482
Green DNM2 in Hereditary neuropathy NOT PMP22 copy number Version 1.64 Latest signed off version: v1.36 (5 Aug 2021)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Radboud University Medical Center, Nijmegen South West GLH Expert Review Green UKGTN Emory Genetics Laboratory Expert list London North GLH Illumina TruGenome Clinical Sequencing Services NHS GMS South West GLH NHS GMS London North GLH Phenotypes Charcot Marie Tooth disease, dominant intermediate B, 606482 Lethal congenital contracture syndrome 5, 615368 Charcot Marie Tooth disease, axonal, type 2M, 606482 Myopathy, centronuclear, 160150 Charcot-Marie-Tooth, Intermediate
Green DNM2 in Severe Paediatric Disorders Version 1.84	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Next Generation Children Project Expert Review Green Expert list Phenotypes Lethal congenital contracture syndrome 5, 615368 Charcot-Marie-Tooth disease, dominant intermediate B, 606482 Charcot-Marie-Tooth disease, axonal type 2M, 606482 Centronuclear myopathy 1, 160150