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  2. Structural eye disease
  3. MFN2
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Structural eye disease

Gene: MFN2

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

2 reviews

Nicola Ragge (Birmingham Women's and Children's NHS Foundation Hospital Trust)

Red List (low evidence)

association with optic atrophy
Created: 19 Jun 2019, 3:32 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Charcot-Marie-Tooth disease, type 2A2; 609260

Created: 19 Jun 2019, 3:32 p.m.

Panel version: 0.76

Ivone Leong (Genomics England Curator)

Red List (low evidence)

Submitted on behalf of Professor Nicola Ragge (Wessex and West Midlands GLH). association with optic atrophy
Created: 17 Apr 2019, 3:30 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Charcot-Marie-Tooth disease, type 2A2, 609260

Created: 17 Apr 2019, 3:30 p.m.

Panel version: 0.47

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Red
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
Panels with this gene

History Filter Activity

12 Apr 2022, Gel status: 1

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: MFN2 were changed from Charcot-Marie-Tooth disease, type 2A2, 609260; Eye Disorders 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

12 Apr 2022, Gel status: 1

Set mode of inheritance

Arina Puzriakova (Genomics England Curator)

Mode of inheritance for gene: MFN2 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

17 Apr 2019, Gel status: 1

Added New Source, Set mode of inheritance, Set Phenotypes

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to MFN2. Mode of inheritance for gene MFN2 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Charcot-Marie-Tooth disease, type 2A2, 609260 for gene: MFN2

3 Jan 2019, Gel status: 1

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

Ellen McDonagh (Genomics England Curator)

gene: MFN2 was added gene: MFN2 was added to Structural eye disease. Sources: Expert Review Red Mode of inheritance for gene: MFN2 was set to Phenotypes for gene: MFN2 were set to Eye Disorders