Congenital ophthalmoplegia
Gene: MFFEnsemblGeneIds (GRCh38): ENSG00000168958
EnsemblGeneIds (GRCh37): ENSG00000168958
OMIM: 614785, Gene2Phenotype
MFF is in 7 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Ophthalmoplegia is a feature along with severe hypotonia with inability to walk, microcephaly, and abnormal signals in the basal ganglia.
Sources: Expert listCreated: 16 Nov 2020, 5:08 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Encephalopathy due to defective mitochondrial and peroxisomal fission 2, MIM# 617086
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert list
- Phenotypes
-
- Encephalopathy due to defective mitochondrial and peroxisomal fission 2, MIM# 617086
- OMIM
- 614785
- Clinvar variants
- Variants in MFF
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: mff has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: mff has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: MFF was added gene: MFF was added to Congenital ophthalmoplegia. Sources: Expert list Mode of inheritance for gene: MFF was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MFF were set to 26783368 Phenotypes for gene: MFF were set to Encephalopathy due to defective mitochondrial and peroxisomal fission 2, MIM# 617086 Review for gene: MFF was set to GREEN