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  2. Optic Atrophy
  3. MFF
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Optic Atrophy

Gene: MFF

Green List (high evidence)
MFF (mitochondrial fission factor)
EnsemblGeneIds (GRCh38): ENSG00000168958
EnsemblGeneIds (GRCh37): ENSG00000168958
OMIM: 614785, Gene2Phenotype
MFF is in 7 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Comment when marking as ready: Optic atrophy is a common feature of this mitochondrial disorder.
Created: 15 Apr 2020, 11:21 p.m. | Last Modified: 15 Apr 2020, 11:21 p.m.
Panel Version: 0.80
Created: 15 Apr 2020, 11:21 p.m.
Last Modified: 15 Apr 2020, 11:21 p.m.
Panel version: 0.80

Elena Savva (Victorian Clinical Genetics Services)

Green List (high evidence)

PMID: 26783368 - 2 fams with bilallelic PTCs with optic atrophy

PMID: 22499341 - 1 fam with bilallelic PTCs with optic atrophy

PMID: 30581454 - 1 patient with bilallelic PTCs with optic atrophy
Sources: Expert Review
Created: 15 Apr 2020, 12:12 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Encephalopathy due to defective mitochondrial and peroxisomal fission 2

Publications

Created: 15 Apr 2020, 12:12 a.m.

Panel version: 0.60

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Encephalopathy due to defective mitochondrial and peroxisomal fission 2
OMIM
614785
Clinvar variants
Variants in MFF
Penetrance
unknown
Publications
Panels with this gene

History Filter Activity

15 Apr 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: mff has been classified as Green List (High Evidence).

15 Apr 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: mff has been classified as Green List (High Evidence).

15 Apr 2020, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance

Elena Savva (Victorian Clinical Genetics Services)

gene: MFF was added gene: MFF was added to Optic Atrophy. Sources: Expert Review Mode of inheritance for gene: MFF was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MFF were set to PMID: 26783368; 22499341; 30581454 Phenotypes for gene: MFF were set to Encephalopathy due to defective mitochondrial and peroxisomal fission 2 Penetrance for gene: MFF were set to unknown Review for gene: MFF was set to GREEN