Optic neuropathy

Gene: MFF

Green List (high evidence)

MFF (mitochondrial fission factor)
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.

Tom Cullup (Great Ormond Street Hospital)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Encephalopathy due to defective mitochondrial and peroxisomal fission 2, 617086

Publications

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