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Possible mitochondrial disorder - nuclear genes

Gene: MFN2

Green List (high evidence)

MFN2 (mitofusin 2)
EnsemblGeneIds (GRCh38): ENSG00000116688
EnsemblGeneIds (GRCh37): ENSG00000116688
OMIM: 608507, Gene2Phenotype
MFN2 is in 15 panels

4 reviews

Ivone Leong (Genomics England Curator)

Green List (high evidence)

Initial gene list and info collated by Carl Fratter (Oxford University Hospitals NHS Trust) January 2019 on behalf of the GMS Mitochondrial specialist test group.
Created: 4 Feb 2019, 1:36 p.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Optic atrophy plus; Mitochondrial DNA depletion syndrome

Publications

Ellen McDonagh (Genomics England Curator)

Comment on mode of inheritance: Both autosomal recessive and dominant mode of inheritance are indicated by OMIM, and by reviewers of this gene on the Charcot-Marie-Tooth disease panel.
Created: 8 Feb 2016, 2:06 p.m.
Comment on list classification: 2 experts agree this gene should be promoted from amber to green.
Created: 8 Feb 2016, 1:57 p.m.

Shamima Rahman (UCL Institute of Child Health)

Green List (high evidence)

Carl Fratter (Oxford University Hospitals NHS Trust)

Green List (high evidence)

Mitochondrial disease phenotypes appear to be associated with specific heterozygous missense mutations; I am not sure that the functional effects are fully understood.
Created: 22 Sep 2015, 8:36 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Mode of pathogenicity
Other

Variants in this GENE are reported as part of current diagnostic practice

History Filter Activity

4 Feb 2019, Gel status: 4

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

Ivone Leong (Genomics England Curator)

gene: MFN2 was added gene: MFN2 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: MFN2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: MFN2 were set to 22556188; 22189565 Phenotypes for gene: MFN2 were set to Mitochondrial DNA depletion syndrome; Optic atrophy plus