Mitochondrial disorders
Gene: MFFEnsemblGeneIds (GRCh38): ENSG00000168958
EnsemblGeneIds (GRCh37): ENSG00000168958
OMIM: 614785, Gene2Phenotype
MFF is in 12 panels
1 review
Shamima Rahman (UCL Institute of Child Health)
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Victorian Clinical Genetics Services
- Expert Review Green
- Radboud University Medical Center, Nijmegen
- Expert
- Phenotypes
-
- Encephalopathy due to defective mitochondrial and peroxisomal fission 2 617086
- OMIM
- 614785
- Clinvar variants
- Variants in MFF
- Penetrance
- Complete
- Panels with this gene
-
- Likely inborn error of metabolism
- Undiagnosed metabolic disorders
- Mitochondrial disorders
- Hereditary neuropathy or pain disorder
- White matter disorders and cerebral calcification - narrow panel
- Childhood onset dystonia, chorea or related movement disorder
- Early onset or syndromic epilepsy
- Optic neuropathy
- Inherited white matter disorders
- Possible mitochondrial disorder - nuclear genes
- Intellectual disability
- DDG2P
History Filter Activity
Added New Source
Sarah Leigh (Genomics England Curator)Victorian Clinical Genetics Services was added to MFF. Panel: Mitochondrial disorders
Set Mode of Inheritance
Sarah Leigh (Genomics England Curator)Mode of inheritance for MFF was changed to BIALLELIC, autosomal or pseudoautosomal
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for MFF were set to Encephalopathy due to defective mitochondrial and peroxisomal fission 2 617086
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for MFF were set to Mitochondrial encephalopathy, 614388
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Added New Source
Ellen McDonagh (Genomics England Curator)MFF was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Radboud University Medical Center, Nijmegen
Added New Source
Ellen McDonagh (Genomics England Curator)MFF was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Radboud University Medical Center, Nijmegen