Hereditary neuropathy or pain disorder
Gene: MFFEnsemblGeneIds (GRCh38): ENSG00000168958
EnsemblGeneIds (GRCh37): ENSG00000168958
OMIM: 614785, Gene2Phenotype
MFF is in 12 panels
2 reviews
Achchuthan Shanmugasundram (Genomics England Curator)
Comment on list classification: There are only two patients reported with neuropathy so far. Hence, this gene should be rated amber with current evidence.Created: 28 Oct 2024, 10:51 a.m. | Last Modified: 28 Oct 2024, 10:51 a.m.
Panel Version: 5.106
PMID:26783368 reported three patients from two unrelated families with EMPF2 and with biallelic MFF variants. Patient 1 (an Austrian boy) was identified with compound heterozygous variants (p.Leu62Profs*13; p.Arg298Ter) and had mixed form of peripheral neuropathy shown on compound muscle action potential. Patient 3 (one of two Turkish siblings) had phenotype consistent with demyelinating peripheral neuropathy, which was absent in his brother. They had homozygous p.Glu153Alafs*5 variants.
Although EMPF2 was reported in other patients (PMIDs: 22499341; 32181496; 34750646), neuropathy was not reported in them.Created: 28 Oct 2024, 10:50 a.m. | Last Modified: 28 Oct 2024, 10:50 a.m.
Panel Version: 5.104
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Encephalopathy due to defective mitochondrial and peroxisomal fission 2, OMIM:617086
Publications
Alexander Rossor (UCL Institute of Neurology)
Sources: Expert listCreated: 19 Oct 2024, 10:26 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
encephalopathy; developmental delay; peripheral neuropathy in some
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Amber
- Phenotypes
-
- Encephalopathy due to defective mitochondrial and peroxisomal fission 2, OMIM:617086
- OMIM
- 614785
- Clinvar variants
- Variants in MFF
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Likely inborn error of metabolism
- Undiagnosed metabolic disorders
- Mitochondrial disorders
- Hereditary neuropathy or pain disorder
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
- Early onset or syndromic epilepsy
- Optic neuropathy
- Inherited white matter disorders
- Possible mitochondrial disorder - nuclear genes
- White matter disorders and cerebral calcification - narrow panel
- DDG2P
History Filter Activity
Entity classified by Genomics England curator
Achchuthan Shanmugasundram (Genomics England Curator)Gene: mff has been classified as Amber List (Moderate Evidence).
Set Phenotypes
Achchuthan Shanmugasundram (Genomics England Curator)Phenotypes for gene: MFF were changed from encephalopathy; developmental delay; peripheral neuropathy in some to Encephalopathy due to defective mitochondrial and peroxisomal fission 2, OMIM:617086
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance
Alexander Rossor (UCL Institute of Neurology)gene: MFF was added gene: MFF was added to Hereditary neuropathy or pain disorder. Sources: Expert list Mode of inheritance for gene: MFF was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MFF were set to 26783368 Phenotypes for gene: MFF were set to encephalopathy; developmental delay; peripheral neuropathy in some Penetrance for gene: MFF were set to Complete Review for gene: MFF was set to GREEN