Mitochondrial disorders Victorian Clinical Genetics Services
Gene: MFN2EnsemblGeneIds (GRCh38): ENSG00000116688
EnsemblGeneIds (GRCh37): ENSG00000116688
OMIM: 608507, Gene2Phenotype
MFN2 is in 16 panels
0 reviews
Details
- Sources
-
- Victorian Clinical Genetics Services
- Expert Review Green
- OMIM
- 608507
- Clinvar variants
- Variants in MFN2
- Penetrance
- None
- Panels with this gene
-
- Mitochondrial DNA maintenance disorder
- Hereditary ataxia with onset in adulthood
- DDG2P
- Undiagnosed metabolic disorders
- Childhood onset dystonia, chorea or related movement disorder
- Mitochondrial disorders
- Severe insulin resistance and lipodystrophy syndromes
- Hereditary neuropathy or pain disorder
- Retinal disorders
- Optic neuropathy
- Likely inborn error of metabolism
- Possible mitochondrial disorder - nuclear genes
- Glaucoma (developmental)
- Hereditary neuropathy
- Structural eye disease
- Arthrogryposis
History Filter Activity
Added New Source
Sarah Leigh (Genomics England Curator)MFN2 was added to Mitochondrial disorders Victorian Clinical Genetics Services panel. Sources: Expert Review Green,Victorian Clinical Genetics Services
Created
Sarah Leigh (Genomics England Curator)MFN2 was created by Sarah Leigh