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MFN2

mitofusin 2

HCNC Approved Symbol
MFN2 (HGNC:16877)
Genomic Coordinates
1:11,980,444 - 12,013,508 (1p36.22)
Synonyms
CPRP1, KIAA0214, MARF, CMT2A2
Disease Associations
This gene is associated with the following 4 diseases in OMIM.
View More Disease Info
Disease NameOMIM IDInheritance
Charcot-Marie-Tooth disease, axonal, type 2A2A
609260AD
Charcot-Marie-Tooth disease, axonal, type 2A2B
617087AR
Hereditary motor and sensory neuropathy VIA
601152AD
Lipomatosis, multiple symmetric, with or without peripheral neuropathy
151800AR

Diagnosed Cases

39Patients

In total, 39 patients were diagnosed with a variant in the MFN2 gene.

Frequently observed phenotypes

(Top 5 only, Patient count*)
*% of total patients presenting each phenotype is shown in parentheses.

Muscle weakness
 9 (23.1%)
Pes cavus
 9 (23.1%)
Difficulty walking
 
5 (12.8%)
Peripheral nervous system disease
 
4 (10.3%)
Frequent falls
 
4 (10.3%)