Likely inborn error of metabolism - targeted testing not possible
Gene: MFN2Comment 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
Other
Variants in this GENE are reported as part of current diagnostic practice
Phenotypes for gene: MFN2 were changed from 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 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 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