Optic neuropathy

Gene: MFN2

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

• 26955893
• 26306937
• 21715711

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

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.

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

• PMID: 26955893
• 26306937
• 21715711

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.

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.