Ataxia and cerebellar anomalies - narrow panelGene: SLC25A46
Hereditary motor and sensory neuropathy type VIB is an autosomal recessive complex progressive neurologic disorder characterized mainly by early-onset optic atrophy resulting in progressive visual loss and peripheral axonal sensorimotor neuropathy with highly variable age at onset and severity. Affected individuals also have cerebellar or pontocerebellar atrophy on brain imaging, and they show abnormal movements, such as ataxia, dysmetria, and myoclonus.
At least 10 unrelated families reported, supportive functional data.
Sources: Expert list
Created: 13 Sep 2020, 6:18 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Neuropathy, hereditary motor and sensory, type VIB, MIM# 616505
Variants in this GENE are reported as part of current diagnostic practice
gene: SLC25A46 was added gene: SLC25A46 was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert list Mode of inheritance for gene: SLC25A46 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC25A46 were set to 30178502; 26168012; 27543974; 27430653; 27390132; 28934388; 28558379 Phenotypes for gene: SLC25A46 were set to Neuropathy, hereditary motor and sensory, type VIB, MIM# 616505 Review for gene: SLC25A46 was set to GREEN gene: SLC25A46 was marked as current diagnostic