White matter disorders and cerebral calcification - childhood onset
Gene: MFF
MFF (mitochondrial fission factor)
EnsemblGeneIds (GRCh38): ENSG00000168958
EnsemblGeneIds (GRCh37): ENSG00000168958
OMIM: 614785, Gene2Phenotype
MFF is in 12 panels
EnsemblGeneIds (GRCh38): ENSG00000168958
EnsemblGeneIds (GRCh37): ENSG00000168958
OMIM: 614785, Gene2Phenotype
MFF is in 12 panels
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Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Phenotypes
-
- Encephalopathy due to defective mitochondrial and peroxisomal fission 2 617086
- OMIM
- 614785
- Clinvar variants
- Variants in MFF
- Penetrance
- None
- Panels with this gene
-
- Undiagnosed metabolic disorders
- DDG2P
- Inherited white matter disorders
- Possible mitochondrial disorder, nuclear genes
- Mitochondrial disorders
- White matter disorders and cerebral calcification - childhood onset
- Likely inborn error of metabolism
- Intellectual disability
- Early onset or syndromic epilepsy
- Optic neuropathy
- Dystonia, chorea or related movement disorder, childhood onset
- Hereditary neuropathy or pain disorder
History Filter Activity
8 Jan 2019, Gel status: 1
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)Checked against super panel made up of the panel constituents. Ready to promote to version 1
19 Dec 2018, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: MFF was added gene: MFF was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Red 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 617086