Retinal disorders
Gene: MFN2
MFN2 (mitofusin 2)
EnsemblGeneIds (GRCh38): ENSG00000116688
EnsemblGeneIds (GRCh37): ENSG00000116688
OMIM: 608507, Gene2Phenotype
MFN2 is in 16 panels
EnsemblGeneIds (GRCh38): ENSG00000116688
EnsemblGeneIds (GRCh37): ENSG00000116688
OMIM: 608507, Gene2Phenotype
MFN2 is in 16 panels
1 review
Gavin Arno (UCL Institute of Ophthalmology/Moorfields Eye Hospital)
optic atrophy associated?Created: 30 Aug 2019, 2:12 p.m. | Last Modified: 30 Aug 2019, 2:12 p.m.
Panel Version: 1.159
Details
- Sources
-
- NHS GMS
- Expert Review Red
- Phenotypes
-
- Optic Atrophy
- Eye Disorders
- OMIM
- 608507
- Clinvar variants
- Variants in MFN2
- Penetrance
- Complete
- Panels with this gene
-
- Undiagnosed metabolic disorders
- Possible mitochondrial disorder, nuclear genes
- Arthrogryposis
- Hereditary neuropathy or pain disorder
- Optic neuropathy
- Dystonia, chorea or related movement disorder, childhood onset
- Severe insulin resistance and lipodystrophy syndromes
- Hereditary neuropathy
- Structural eye disease
- Mitochondrial DNA maintenance disorder
- DDG2P
- Hereditary ataxia, adult onset
- Glaucoma (developmental)
- Retinal disorders
- Mitochondrial disorders
- Likely inborn error of metabolism
History Filter Activity
3 Apr 2019, Gel status: 1
Added New Source
Ivone Leong (Genomics England Curator)Source NHS GMS was added to MFN2.
9 Mar 2016, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)MFN2 was created by ellenmcdonagh
9 Mar 2016, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)MFN2 was added to Posterior segment abnormalitiespanel. Sources: Expert Review Red