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Inborn errors of metabolism

Gene: MFF

Green List (high evidence)

MFF (mitochondrial fission factor)
EnsemblGeneIds (GRCh38): ENSG00000168958
EnsemblGeneIds (GRCh37): ENSG00000168958
OMIM: 614785, Gene2Phenotype
MFF is in 10 panels

2 reviews

Rebecca Foulger (Genomics England curator)

Green List (high evidence)

3 unrelated cases from mixed populations, together with supportive in vitro evidence
Created: 23 Feb 2017, 5:14 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Shamima Rahman (UCL Institute of Child Health)

Green List (high evidence)

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Encephalopathy due to defective mitochondrial and peroxisomal fission 2
  • Encephalopathy due to defective mitochondrial and peroxisomal fission 2, 617086
  • Disorders of mitochondrial dynamics, fusion and fission (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
OMIM
614785
Clinvar variants
Variants in MFF
Penetrance
None
Publications
Panels with this gene

History Filter Activity

13 Feb 2019, Gel status: 4

Added New Source, Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to MFF. Source London North GLH was added to MFF.

8 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Ellen McDonagh: Comment on mode of pathogenici

16 Dec 2018, Gel status: 4

Set Phenotypes, Set publications

Ellen McDonagh (Genomics England Curator)

Added phenotypes Encephalopathy due to defective mitochondrial and peroxisomal fission 2, 617086; Disorders of mitochondrial dynamics, fusion and fission (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) for gene: MFF Publications for gene MFF were changed from to 27604308

16 Dec 2018, Gel status: 4

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

Ellen McDonagh (Genomics England Curator)

gene: MFF was added gene: MFF was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: MFF was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MFF were set to Encephalopathy due to defective mitochondrial and peroxisomal fission 2