Mitochondrial disease
Gene: MFF
MFF (mitochondrial fission factor)
EnsemblGeneIds (GRCh38): ENSG00000168958
EnsemblGeneIds (GRCh37): ENSG00000168958
OMIM: 614785, Gene2Phenotype
MFF is in 7 panels
EnsemblGeneIds (GRCh38): ENSG00000168958
EnsemblGeneIds (GRCh37): ENSG00000168958
OMIM: 614785, Gene2Phenotype
MFF is in 7 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Encephalopathy due to defective mitochondrial and peroxisomal fission-2 (EMPF2) is an autosomal recessive disorder characterized by delayed psychomotor development, severe hypotonia with inability to walk, microcephaly, and abnormal signals in the basal ganglia. More variable features include early-onset seizures, optic atrophy, and peripheral neuropathy.
Four unrelated families reported.Created: 18 May 2022, 7:09 a.m. | Last Modified: 18 May 2022, 7:09 a.m.
Panel Version: 0.14491
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Encephalopathy due to defective mitochondrial and peroxisomal fission 2, MIM# 617086
Publications
Details
- Mode of Inheritance
- Unknown
- Sources
-
- Expert Review Green
- Victorian Clinical Genetics Services
- Australian Genomics Health Alliance Mitochondrial Flagship
- Expert Review Green
- Victorian Clinical Genetics Services
- OMIM
- 614785
- Clinvar variants
- Variants in MFF
- Penetrance
- None
- Panels with this gene
History Filter Activity
17 Nov 2019, Gel status: 3
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: MFF was added gene: MFF was added to Mitochondrial_AGHA_VCGS. Sources: Expert Review Green,Australian Genomics Health Alliance Mitochondrial Flagship,Victorian Clinical Genetics Services Mode of inheritance for gene: MFF was set to Unknown