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Severe Paediatric Disorders

Gene: MFF

Green List (high evidence)

MFF (mitochondrial fission factor)
EnsemblGeneIds (GRCh38): ENSG00000168958
EnsemblGeneIds (GRCh37): ENSG00000168958
OMIM: 614785, Gene2Phenotype
MFF is in 11 panels

1 review

Louise Daugherty (Genomics England Curator)

I don't know

Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: MFF; Recommended initial gene rating: Green List (high evidence); Phenotypes: Encephalopathy due to defective mitochondrial and peroxisomal fission 2, 617086 (3); Mode of inheritance: Autosomal recessive
Created: 20 Feb 2020, 5:22 p.m. | Last Modified: 20 Feb 2020, 5:22 p.m.
Panel Version: 0.12

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Next Generation Children Project
  • Expert Review Green
  • Expert list
Phenotypes
  • Encephalopathy due to defective mitochondrial and peroxisomal fission 2, 617086
OMIM
614785
Clinvar variants
Variants in MFF
Penetrance
None
Publications
Panels with this gene

History Filter Activity

21 Feb 2020, Gel status: 3

Set mode of inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene MFF was changed from to BIALLELIC, autosomal or pseudoautosomal

20 Feb 2020, Gel status: 3

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene MFF were updated from to 30847515

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Encephalopathy due to defective mitochondrial and peroxisomal fission 2, 617086 for gene: MFF

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Encephalopathy due to defective mitochondrial and peroxisomal fission 2, 617086 for gene: MFF

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Encephalopathy due to defective mitochondrial and peroxisomal fission 2, 617086 for gene: MFF

19 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Encephalopathy due to defective mitochondrial and peroxisomal fission 2, 617086 for gene: MFF

14 Feb 2020, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source Next Generation Children Project was added to MFF.

14 Feb 2020, Gel status: 3

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source Expert Review Green was added to MFF. Rating Changed from Red List (low evidence) to Green List (high evidence)

14 Feb 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: MFF was added gene: MFF was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: MFF was set to