Optic neuropathy

Gene: MFN2

Green List (high evidence)

MFN2 (mitofusin 2)
EnsemblGeneIds (GRCh38): ENSG00000116688
EnsemblGeneIds (GRCh37): ENSG00000116688
OMIM: 608507, Gene2Phenotype
MFN2 is in 17 panels

5 reviews

Tom Cullup (Great Ormond Street Hospital)

Green List (high evidence)

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Optic Atrophy; Hereditary motor and sensory neuropathy VIA; Charcot-Marie-Tooth disease, axonal, type 2A2A (AD), 609260; Charcot-Marie-Tooth disease, axonal, type 2A2B (AR), 617087; Hereditary motor and sensory neuropathy VIA (AD), 601152

Publications

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

Louise Daugherty (Genomics England Curator)

Comment on publications: Added publications suggested from external expert review to support upgrading of the gene to Green
Created: 13 Jul 2018, 4:22 p.m.
Comment on mode of inheritance: Added MOI from external expert review
Created: 13 Jul 2018, 4:22 p.m.

Panagiotis Sergouniotis (Academic Clinic Fellow)

Green List (high evidence)

https://omim.org/entry/608507
Created: 1 Jun 2018, 6:32 p.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Publications

Ellen Thomas (Genomics England Curator)

Comment on mode of inheritance: The relevant type of CMT appears to be dominant only in OMIM.
Created: 11 Sep 2016, 9:09 a.m.
Comment on list classification: Optic atrophy is part of this variant of CMT. It is possible a patient in an eye clinic could be recruited under optic neuropathies without the rest of the phenotype being taken into account so this should be green.
Created: 11 Sep 2016, 9:08 a.m.

Ellen McDonagh (Genomics England Curator)

Information from different studies suggests that optic atropy is not found in all patients with hereditary motor and sensory neuropathy/Charcot-Marie-Tooth disease who have variants within this gene, or it may be later onset than axonal neuropathy.
Created: 7 Sep 2016, 8:10 a.m.

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • London North GLH
  • Expert Review Green
  • Expert
  • Emory Genetics Laboratory
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
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 Optic Atrophy; Hereditary motor and sensory neuropathy VIA; Charcot-Marie-Tooth disease, axonal, type 2A2A (AD), 609260; Charcot-Marie-Tooth disease, axonal, type 2A2B (AR), 617087; Hereditary motor and sensory neuropathy VIA (AD), 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

19 Mar 2019, Gel status: 3

Added New Source, Status Update

Ivone Leong (Genomics England Curator)

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

13 Jul 2018, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: MFN2 were set to Optic Atrophy; Hereditary motor and sensory neuropathy VIA; Charcot-Marie-Tooth disease, axonal, type 2A2A (AD), 609260; Charcot-Marie-Tooth disease, axonal, type 2A2B (AR), 617087; Hereditary motor and sensory neuropathy VIA (AD), 601152

13 Jul 2018, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: MFN2 were set to Optic Atrophy; Hereditary motor and sensory neuropathy VIA; Charcot-Marie-Tooth disease, axonal, type 2A2A (AD), 609260; Charcot-Marie-Tooth disease, axonal, type 2A2B (AR), 617087; Hereditary motor and sensory neuropathy VIA (AD) 601152

13 Jul 2018, Gel status: 3

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: MFN2 were set to 26955893; 26306937; 21715711

13 Jul 2018, Gel status: 3

Set mode of inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene: MFN2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

13 Sep 2016, Gel status: 4

panel promoted to version 1

Ellen McDonagh (Genomics England Curator)

13.09.2016: 'Inherited optic neuropathies' was removed as a relevant disorder from the Posterior segment abnormalities gene panel (version 1.9) and this panel was approved to live. It has been internally reviewed and revised based on evidence available for each gene, and was promoted to version 1 to be used for analysis.

11 Sep 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen Thomas (Genomics England Curator)

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

11 Sep 2016, Gel status: 4

Set Mode of Inheritance

Ellen Thomas (Genomics England Curator)

Mode of inheritance for MFN2 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

11 Sep 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen Thomas (Genomics England Curator)

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

7 Sep 2016, Gel status: 2

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for MFN2 were set to Optic Atrophy;Hereditary motor and sensory neuropathy VIA;609260;617087;601152

7 Sep 2016, Gel status: 2

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

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

7 Sep 2016, Gel status: 2

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

8 Jun 2015, Gel status: 1

Added New Source

Augusto Rendon (Genomics England)

MFN2 was added to Inherited optic neuropathiespanel. Sources: Expert

28 Apr 2015, Gel status: 1

Added New Source

GEL ()

MFN2 was added to Inherited optic neuropathies    panel. Sources: Emory Genetics Laboratory