Optic neuropathy
Gene: MFN2
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
Comment on publications: Added publications suggested from external expert review to support upgrading of the gene to GreenCreated: 13 Jul 2018, 4:22 p.m.
Comment on mode of inheritance: Added MOI from external expert reviewCreated: 13 Jul 2018, 4:22 p.m.
https://omim.org/entry/608507Created: 1 Jun 2018, 6:32 p.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications
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.
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
Source London North GLH was added to MFN2. Rating Changed from Green List (high evidence) to Green List (high evidence)
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
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
Publications for gene: MFN2 were set to 26955893; 26306937; 21715711
Mode of inheritance for gene: MFN2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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.
This gene has been classified as Green List (High Evidence).
Mode of inheritance for MFN2 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
This gene has been classified as Green List (High Evidence).
Phenotypes for MFN2 were set to Optic Atrophy;Hereditary motor and sensory neuropathy VIA;609260;617087;601152
Mode of inheritance for MFN2 was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
This gene has been classified as Amber List (Moderate Evidence).
MFN2 was added to Inherited optic neuropathiespanel. Sources: Expert
MFN2 was added to Inherited optic neuropathies panel. Sources: Emory Genetics Laboratory