Lipodystrophy - childhood onset
Gene: MFN2EnsemblGeneIds (GRCh38): ENSG00000116688
EnsemblGeneIds (GRCh37): ENSG00000116688
OMIM: 608507, Gene2Phenotype
MFN2 is in 16 panels
1 review
Achchuthan Shanmugasundram (Genomics England Curator)
The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.Created: 31 Dec 2025, 7:17 p.m. | Last Modified: 31 Dec 2025, 7:17 p.m.
Panel Version: 4.66
This gene is approved to upgrade to Green when TD eligibility and Clinical Indication name is expanded to Severe insulin resistance and lipodystrophy syndromes.Created: 17 Jun 2024, 8:59 a.m. | Last Modified: 17 Jun 2024, 8:59 a.m.
Panel Version: 4.54
Comment on list classification: As recommended by NHS, there is sufficient evidence available for associating this gene with lipomatosis and severe insulin resistance and hence this gene can be promoted to green rating at the next GMS review.Created: 7 Aug 2023, 12:59 p.m. | Last Modified: 7 Aug 2023, 12:59 p.m.
Panel Version: 4.31
Comment on phenotypes: Autosomal recessive variants in this gene have been associated with cephalothoracic lipodystrophy in OMIM (MIM #151800), but not in Gene2Phenotype.Created: 7 Aug 2023, 12:56 p.m. | Last Modified: 7 Aug 2023, 12:56 p.m.
Panel Version: 4.29
This gene was added on recommendation of NHSE Genomic Medicine Service:
Biallelic R707W mutations or R707W in compound heterozygosity with other loss of function variants cause a complex clinical syndrome consisting of multiple lipomas/upper body adipose tissue overgrowth, concomitant lipoatrophy and the development of severe insulin resistance and its metabolic complications. Affected individuals also have a paucisymptomatic axonal neuropathy. This has now been demonstrated in at least 13 patients from 10 independent families (PMID: 30158064, 28414270, 26085578). It is likely that mitochondrial dysfunction in adipose tissue is crucial to the pathogenesis of this condition but the specific cellular and molecular mechanisms remain to be elucidated.Created: 2 Aug 2023, 11:35 a.m. | Last Modified: 7 Aug 2023, 12:14 p.m.
Panel Version: 4.27
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
MFN2-associated multiple lipomatosis, lipodystrophy, severe insulin resistance, axonal sensorimotor neuropathy
Publications
Mode of pathogenicity
Other
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- NHS GMS
- Expert list
- Phenotypes
-
- Lipomatosis, multiple symmetric, with or without peripheral neuropathy, OMIM:151800
- OMIM
- 608507
- Clinvar variants
- Variants in MFN2
- Penetrance
- None
- Publications
- Mode of Pathogenicity
- Other
- Panels with this gene
-
- Hereditary neuropathy
- Mitochondrial DNA maintenance disorder
- Mitochondrial disorders
- Retinal disorders
- DDG2P
- Optic neuropathy
- Likely inborn error of metabolism
- Hereditary ataxia with onset in adulthood
- Hereditary neuropathy or pain disorder
- Possible mitochondrial disorder - nuclear genes
- Lipodystrophy - childhood onset
- Structural eye disease
- Arthrogryposis
- Glaucoma (developmental)
- Undiagnosed metabolic disorders
- Childhood onset dystonia, chorea or related movement disorder
History Filter Activity
Removed Tag
Achchuthan Shanmugasundram (Genomics England Curator)Tag to_be_confirmed_NHSE was removed from gene: MFN2.
Added New Source, Status Update
Achchuthan Shanmugasundram (Genomics England Curator)Source Expert Review Green was added to MFN2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Added Tag
Achchuthan Shanmugasundram (Genomics England Curator)Tag to_be_confirmed_NHSE tag was added to gene: MFN2.
Added New Source, Status Update
Achchuthan Shanmugasundram (Genomics England Curator)Source Expert Review Amber was added to MFN2. Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Removed Tag, Removed Tag
Achchuthan Shanmugasundram (Genomics England Curator)Tag Q3_23_promote_green was removed from gene: MFN2. Tag Q3_23_NHS_review was removed from gene: MFN2.
Added New Source, Status Update
Achchuthan Shanmugasundram (Genomics England Curator)Source Expert Review Green was added to MFN2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Added Tag, Added Tag
Achchuthan Shanmugasundram (Genomics England Curator)Tag Q3_23_promote_green tag was added to gene: MFN2. Tag Q3_23_NHS_review tag was added to gene: MFN2.
Entity classified by Genomics England curator
Achchuthan Shanmugasundram (Genomics England Curator)Gene: mfn2 has been classified as Amber List (Moderate Evidence).
Set publications
Achchuthan Shanmugasundram (Genomics England Curator)Publications for gene: MFN2 were set to 26085578; 28414270; 3015806
Set Phenotypes
Achchuthan Shanmugasundram (Genomics England Curator)Phenotypes for gene: MFN2 were changed from MFN2-associated multiple lipomatosis, lipodystrophy, severe insulin resistance, axonal sensorimotor neuropathy to Lipomatosis, multiple symmetric, with or without peripheral neuropathy, OMIM:151800
Set publications
Achchuthan Shanmugasundram (Genomics England Curator)Publications for gene: MFN2 were set to
Created, Added New Source, Set mode of inheritance, Set Phenotypes, Set mode of pathogenicity
Achchuthan Shanmugasundram (Genomics England Curator)gene: MFN2 was added gene: MFN2 was added to Lipodystrophy - childhood onset. Sources: Expert list,NHS GMS Mode of inheritance for gene: MFN2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MFN2 were set to MFN2-associated multiple lipomatosis, lipodystrophy, severe insulin resistance, axonal sensorimotor neuropathy Mode of pathogenicity for gene: MFN2 was set to Other