1. Panels
  2. Likely inborn error of metabolism
  3. MFN2
Genes in panel
Prev Next

Likely inborn error of metabolism

Gene: MFN2

Green List (high evidence)
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: Imported from Mitochondrial disorders 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: Imported from Mitochondrial disorders 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: Imported from Mitochondrial disorders panel version 0

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
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
None
Publications
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 Charcot-Marie-Tooth disease, type 2A2, 609260; Disorders of mitochondrial dynamics, fusion and fission (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Disorders of mitochondrial DNA maintenance and integrity; 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

13 Feb 2019, Gel status: 4

Added New Source, Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to MFN2. Source London North GLH was added to MFN2.

8 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Ellen McDonagh: Comment on mode of pathogenici

16 Dec 2018, Gel status: 4

Set Phenotypes, Set publications

Ellen McDonagh (Genomics England Curator)

Added phenotypes Charcot-Marie-Tooth disease, type 2A2, 609260; Disorders of mitochondrial dynamics, fusion and fission (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Disorders of mitochondrial DNA maintenance and integrity; Hereditary motor and sensory neuropathy VI, 601152 for gene: MFN2 Publications for gene MFN2 were changed from to 27604308

16 Dec 2018, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

gene: MFN2 was added gene: MFN2 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: MFN2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: MFN2 were set to Charcot-Marie-Tooth disease, type 2A2, 609260; Disorders of mitochondrial DNA maintenance and integrity; Hereditary motor and sensory neuropathy VI, 601152