Hereditary neuropathy
Gene: MFN2
Multiple C5s in Bristol. Also well established from looking at HGMDCreated: 29 Apr 2019, 12:30 p.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Charcot Marie Tooth disease, type 2A2, 609260; Hereditary motor and sensory neuropathy VI, 601152; other; Charcot-Marie-Tooth, Type 2 (Dominant); Hereditary Motor and Sensory Neuropathy (Recessive); MFN2 axonal neuropathy
Variants in this GENE are reported as part of current diagnostic practice
Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.Created: 9 May 2019, 5 p.m.
Review and rating submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.Created: 29 Apr 2019, 12:53 p.m.
Variants in this GENE are reported as part of current diagnostic practice
Variants in this GENE are reported as part of current diagnostic practice
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Variants in this GENE are reported as part of current diagnostic practice
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Variants in this GENE are reported as part of current diagnostic practice
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Is on the Charcot-Marie- Tooth disease type 2 / Intermediate CMT NGS Panel in the UCLH National Hospital for Neurology and Neurosurgery & Institute of Neurology (NHNN) Neurogenetics genetic testing manual.Created: 10 Jun 2016, 1:08 p.m.
Phenotypes for gene: MFN2 were changed from Charcot-Marie-Tooth, Type 2 (Dominant); MFN2 axonal neuropathy; MFN2 axonal neuropathy; Charcot-Marie-Tooth, Type 2 (Dominant); Charcot Marie Tooth disease, type 2A2, 609260; Hereditary motor and sensory neuropathy VI, 601152; Hereditary motor and sensory neuropathy VI, 601152; Hereditary Motor and Sensory Neuropathy (Recessive); Hereditary Motor and Sensory Neuropathy (Recessive) to Charcot-Marie-Tooth disease, axonal, type 2A2A, OMIM:609260; Charcot-Marie-Tooth disease, axonal, type 2A2B, OMIM:617087; Hereditary motor and sensory neuropathy VIA, OMIM:601152
Phenotypes for gene: MFN2 were changed from Charcot-Marie-Tooth, Type 2 (Dominant); MFN2 axonal neuropathy; other; other; MFN2 axonal neuropathy ; Charcot-Marie-Tooth, Type 2 (Dominant); Charcot Marie Tooth disease, type 2A2, 609260; Hereditary motor and sensory neuropathy VI, 601152; Hereditary motor and sensory neuropathy VI, 601152; Hereditary Motor and Sensory Neuropathy (Recessive); Hereditary Motor and Sensory Neuropathy (Recessive) to Charcot-Marie-Tooth, Type 2 (Dominant); MFN2 axonal neuropathy; MFN2 axonal neuropathy; Charcot-Marie-Tooth, Type 2 (Dominant); Charcot Marie Tooth disease, type 2A2, 609260; Hereditary motor and sensory neuropathy VI, 601152; Hereditary motor and sensory neuropathy VI, 601152; Hereditary Motor and Sensory Neuropathy (Recessive); Hereditary Motor and Sensory Neuropathy (Recessive)
Added phenotypes MFN2 axonal neuropathy; other; Charcot-Marie-Tooth, Type 2 (Dominant); Charcot Marie Tooth disease, type 2A2, 609260; Hereditary motor and sensory neuropathy VI, 601152; Hereditary Motor and Sensory Neuropathy (Recessive) for gene: MFN2
Source South West GLH was added to MFN2.
Source NHS GMS was added to MFN2.
Source London North GLH was added to MFN2. Rating Changed from Green List (high evidence) to Green List (high evidence)
This gene has been classified as Green List (High Evidence).
MFN2 was added to Charcot-Marie-Tooth diseasepanel. Sources: Eligibility statement prior genetic testing
Model of inheritance for gene MFN2 was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Model of inheritance for gene MFN2 was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Model of inheritance for gene MFN2 was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Model of inheritance for gene MFN2 was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Model of inheritance for gene MFN2 was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Model of inheritance for gene MFN2 was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
MFN2 was added to Charcot-Marie-Tooth diseasepanel. Sources: UKGTN,Radboud University Medical Center, Nijmegen,Expert list,Illumina TruGenome Clinical Sequencing Services,Emory Genetics Laboratory
Model of inheritance for gene MFN2 was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
MFN2 was added to Charcot-Marie-Tooth diseasepanel. Sources: UKGTN,Radboud University Medical Center, Nijmegen,Expert list,Illumina TruGenome Clinical Sequencing Services,Emory Genetics Laboratory
Model of inheritance for gene MFN2 was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
MFN2 was added to Charcot-Marie-Tooth diseasepanel. Sources: UKGTN,Radboud University Medical Center, Nijmegen,Expert list,Illumina TruGenome Clinical Sequencing Services,Emory Genetics Laboratory
Model of inheritance for gene MFN2 was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
MFN2 was added to Charcot-Marie-Tooth diseasepanel. Sources: UKGTN,Radboud University Medical Center, Nijmegen,Expert list,Illumina TruGenome Clinical Sequencing Services,Emory Genetics Laboratory
MFN2 was added to Charcot-Marie-Tooth diseasepanel. Sources: UKGTN,Radboud University Medical Center, Nijmegen,Expert list,Illumina TruGenome Clinical Sequencing Services,Emory Genetics Laboratory