Optic neuropathy
Gene: MFF
MFF (mitochondrial fission factor)
EnsemblGeneIds (GRCh38): ENSG00000168958
EnsemblGeneIds (GRCh37): ENSG00000168958
OMIM: 614785, Gene2Phenotype
MFF is in 12 panels
EnsemblGeneIds (GRCh38): ENSG00000168958
EnsemblGeneIds (GRCh37): ENSG00000168958
OMIM: 614785, Gene2Phenotype
MFF is in 12 panels
2 reviews
Ivone Leong (Genomics England Curator)
Comment on list classification: Promoted from amber to green. The gene is associated with a phenotype in OMIM but not in Gene2Phenotype. There are 3 unrelated cases with different variants in this gene associated with optic atrophy and also based on the expert review, it was decided that there is enough evidence to promote this gene to a green rating.Created: 21 Mar 2019, 11:29 a.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- London North GLH
- Phenotypes
-
- Encephalopathy due to defective mitochondrial and peroxisomal fission 2, 617086
- OMIM
- 614785
- Clinvar variants
- Variants in MFF
- Penetrance
- None
- Publications
- Panels with this gene
-
- Likely inborn error of metabolism
- Childhood onset dystonia, chorea or related movement disorder
- Possible mitochondrial disorder - nuclear genes
- Hereditary neuropathy or pain disorder
- Intellectual disability
- Undiagnosed metabolic disorders
- DDG2P
- Inherited white matter disorders
- White matter disorders and cerebral calcification - narrow panel
- Optic neuropathy
- Early onset or syndromic epilepsy
- Mitochondrial disorders
History Filter Activity
21 Mar 2019, Gel status: 3
Entity classified by Genomics England curator
Ivone Leong (Genomics England Curator)Gene: mff has been classified as Green List (High Evidence).
21 Mar 2019, Gel status: 2
Set publications
Ivone Leong (Genomics England Curator)Publications for gene: MFF were set to 30581454; 26783368
19 Mar 2019, Gel status: 2
Set Phenotypes
Ivone Leong (Genomics England Curator)Phenotypes for gene: MFF were changed from to Encephalopathy due to defective mitochondrial and peroxisomal fission 2, 617086
19 Mar 2019, Gel status: 2
Set publications
Ivone Leong (Genomics England Curator)Publications for gene: MFF were set to
19 Mar 2019, Gel status: 2
Set mode of inheritance
Ivone Leong (Genomics England Curator)Mode of inheritance for gene: MFF was changed from to BIALLELIC, autosomal or pseudoautosomal
19 Mar 2019, Gel status: 2
Created, Added New Source, Set mode of inheritance
Ivone Leong (Genomics England Curator)gene: MFF was added gene: MFF was added to Optic neuropathy. Sources: London North GLH,Expert Review Amber Mode of inheritance for gene: MFF was set to