Mitochondrial disorders
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 Disorders of mitochondrial DNA maintenance and integrity; Charcot-Marie-Tooth disease, type 2A2, 609260; 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
Victorian Clinical Genetics Services was added to MFN2. Panel: Mitochondrial disorders
This gene has been classified as Green List (High Evidence).
Phenotypes for MFN2 were set to Disorders of mitochondrial DNA maintenance and integrity; Charcot-Marie-Tooth disease, type 2A2, 609260; Hereditary motor and sensory neuropathy VI, 601152
Mode of inheritance for MFN2 was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
This gene has been classified as Green List (High Evidence).
MFN2 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Expert list,Radboud University Medical Center, Nijmegen,UKGTN
MFN2 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Expert list,Radboud University Medical Center, Nijmegen,UKGTN
MFN2 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Expert list,Radboud University Medical Center, Nijmegen,UKGTN
MFN2 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Expert list,Radboud University Medical Center, Nijmegen,UKGTN