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Genetic epilepsy syndromes

Gene: MFF

Green List (high evidence)

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

3 reviews

Rebecca Foulger (Genomics England curator)

I don't know

Review and rating collated by Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust, 2019_02_06) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group, for Clinical Indication R59 'Early onset or syndromic epilepsy'. Review contributors: John Taylor and Helen Lord. Suggested gene rating: Green.
Created: 6 Aug 2019, 8:38 p.m. | Last Modified: 6 Aug 2019, 8:38 p.m.
Panel Version: 1.189

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

AR encephalopathy due to defective mitochondrial and peroxisomal fission 2 - characterised by delayed psychomotor development, severe hypotonia with inability to walk, microcephaly and abnormal signls in the basal ganglia. More variable features include early-onset seizures. Shamseldin et al, 2012 - 2 brothers of consang Saudi parents - neither had seizures - hom nonsense mutation identified no functional work. Koch et al, 2016 - 3 patients including an Austrian boy, and 2 sibs with consang Turkish parents. All had onset of severe seizures within the first year of life, hom or compund het truncating mutations. Western blot analysis of patient fibroblasts showed normal levels of DRP1 but there was abnormal diffuse intracellular localisation of DRP1 , suggesting it is not properly recruited to mitochondrial fission nodes. Epilepsy in 2/3 reported families, with functional studies supporting pathogenicity.
Created: 6 Aug 2019, 8:31 p.m. | Last Modified: 6 Aug 2019, 8:31 p.m.
Panel Version: 1.188

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Encephalopathy due to defective mitochondrial and peroxisomal fission, 617086

Publications

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

Inclusion of this as a green gene on this panel is appropriate, based on the review in the Undiagnosed metabolic disorders panel and the views of clinical expert, Dr Arianna Tucci, UCL.
Created: 20 Mar 2017, 10:44 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Encephalopathy due to defective mitochondrial and peroxisomal fission 2 617086

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Wessex and West Midlands GLH
  • NHS GMS
  • Expert Review
  • Expert Review Green
Phenotypes
  • Encephalopathy due to defective mitochondrial and peroxisomal fission 2 617086
OMIM
614785
Clinvar variants
Variants in MFF
Penetrance
None
Panels with this gene

History Filter Activity

6 Aug 2019, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

Source Wessex and West Midlands GLH was added to MFF.

6 Aug 2019, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

Source NHS GMS was added to MFF.

11 Dec 2018, Gel status: 4

Panel promoted to version 1.0

Sarah Leigh (Genomics England Curator)

Sarah Leigh: Inclusion of this as a green g

4 Apr 2018, Gel status: 4

Added New Source

Sarah Leigh (Genomics England Curator)

MFF was added to Genetic Epilepsy Syndromes panel. Sources: Expert Review Green,Expert Review

4 Apr 2018, Gel status: 4

Created

Sarah Leigh (Genomics England Curator)

MFF was created by Sarah Leigh