Inborn errors of metabolismGene: MFN2
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.
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
Variants in this GENE are reported as part of current diagnostic practice
Source NHS GMS was added to MFN2. Source London North GLH was added to MFN2.
Ellen McDonagh: Comment on mode of pathogenici
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
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