Mitochondrial disorders
Gene: MFN2

MFN2 (mitofusin 2)
EnsemblGeneIds (GRCh38): ENSG00000116688
EnsemblGeneIds (GRCh37): ENSG00000116688
OMIM: 608507, Gene2Phenotype
MFN2 is in 16 panels

3 reviews

Ellen McDonagh (Genomics England Curator)

Comment on mode of inheritance: Both autosomal recessive and dominant mode of inheritance are indicated by OMIM, and by reviewers of this gene on the Charcot-Marie-Tooth disease panel.
Created: 8 Feb 2016, 2:06 p.m.

Comment on list classification: 2 experts agree this gene should be promoted from amber to green.
Created: 8 Feb 2016, 1:57 p.m.

Created: 8 Feb 2016, 1:57 p.m.

Panel version: 0.50

Shamima Rahman (UCL Institute of Child Health)

Green List (high evidence)

Created: 8 Feb 2016, 10:30 a.m.

Panel version: 0.37

Carl Fratter (Oxford University Hospitals NHS Trust)

Green List (high evidence)

Mitochondrial disease phenotypes appear to be associated with specific heterozygous missense mutations; I am not sure that the functional effects are fully understood.
Created: 22 Sep 2015, 8:36 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Mode of pathogenicity
Other

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

Created: 22 Sep 2015, 8:36 p.m.

Panel version: 0

Details

Mode of Inheritance

BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Sources

Victorian Clinical Genetics Services
Expert Review Green
UKGTN
Radboud University Medical Center, Nijmegen
Expert list
Expert

Phenotypes

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

OMIM

608507

Clinvar variants

Variants in MFN2

Penetrance

Complete

Panels with this gene

History Filter Activity

12 Apr 2022, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: MFN2 were changed from Disorders of mitochondrial DNA maintenance and integrity; Charcot-Marie-Tooth disease, type 2A2, 609260; Hereditary motor and sensory neuropathy VI, 601152 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

28 Aug 2018, Gel status: 4

Added New Source

Sarah Leigh (Genomics England Curator)

Victorian Clinical Genetics Services was added to MFN2. Panel: Mitochondrial disorders

8 Feb 2016, Gel status: 4