Genes in panel

Hereditary neuropathy

Gene: MFN2

Green List (high evidence)

MFN2 (mitofusin 2)
EnsemblGeneIds (GRCh38): ENSG00000116688
EnsemblGeneIds (GRCh37): ENSG00000116688
OMIM: 608507, Gene2Phenotype
MFN2 is in 14 panels

8 reviews

Natalie Forrester (SWGLH - Bristol Genetics)

Green List (high evidence)

Multiple C5s in Bristol. Also well established from looking at HGMD
Created: 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

Louise Daugherty (Genomics England Curator)

I don't know

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.

James Polke (Neurogenetics Laboratory, Institute of Neurology, London)

Green List (high evidence)

Variants in this GENE are reported as part of current diagnostic practice

Rita Horvath (Institute of Genetic Medicine, Newcastle University)

Green List (high evidence)

Variants in this GENE are reported as part of current diagnostic practice

Alexander Rossor (UCL Institute of Neurology)

Green List (high evidence)

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Variants in this GENE are reported as part of current diagnostic practice

Mary Reilly (Institute of Neurology)

Green List (high evidence)

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Variants in this GENE are reported as part of current diagnostic practice

Thalia Antoniadi (West Midlands Regional Genetics Laboratory)

Green List (high evidence)

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Ellen McDonagh (Genomics England Curator)

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.

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • South West GLH
  • NHS GMS
  • London North GLH
  • Expert Review Green
  • Eligibility statement prior genetic testing
  • Emory Genetics Laboratory
  • Illumina TruGenome Clinical Sequencing Services
  • Expert list
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • 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)
OMIM
608507
Clinvar variants
Variants in MFN2
Penetrance
Complete
Panels with this gene

History Filter Activity

29 Apr 2019, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

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)

29 Apr 2019, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

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

29 Apr 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source South West GLH was added to MFN2.

29 Apr 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to MFN2.

29 Apr 2019, Gel status: 3

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source London North GLH was added to MFN2. Rating Changed from Green List (high evidence) to Green List (high evidence)

3 May 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

12 Aug 2015, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

MFN2 was added to Charcot-Marie-Tooth diseasepanel. Sources: Eligibility statement prior genetic testing

20 Jul 2015, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene MFN2 was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

20 Jul 2015, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene MFN2 was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

20 Jul 2015, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene MFN2 was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

20 Jul 2015, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene MFN2 was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

20 Jul 2015, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene MFN2 was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

20 Jul 2015, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene MFN2 was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

20 Jul 2015, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

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

20 Jul 2015, Gel status: 3

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene MFN2 was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

20 Jul 2015, Gel status: 3

Added New Source

Ellen McDonagh (Genomics England Curator)

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

20 Jul 2015, Gel status: 2

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene MFN2 was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

20 Jul 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

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

20 Jul 2015, Gel status: 2

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene MFN2 was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

20 Jul 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

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

20 Jul 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

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