MFN2, mitofusin 2, 9927

N. diseases: 334; N. variants: 75
Disease: Cerebellar atrophy ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs747176196
rs747176196
Entrez Id: 9927
Gene Symbol: MFN2
MFN2
CUI: C0740279
Disease:
Cerebellar atrophy 		0.010 GeneticVariation BEFREE Using whole exome sequencing, we identified homozygous p.Val55Ala in the THG1L (tRNA-histidine guanylyltransferase 1 like) gene in three siblings who presented with cerebellar signs, developmental delay, dysarthria, and pyramidal signs and had cerebellar atrophy on brain MRI. 27307223 2016