Mitochondrial disease

Gene: SLC25A46

Green List (high evidence)

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. New PCH disease entity added by OMIM in 2021 to reflect the more severe end of the spectrum.

At least 10 unrelated families reported, supportive functional data.

Mitochondrial carrier protein.

Created: 13 Sep 2020, 6:23 a.m. | Last Modified: 9 May 2021, 11:22 p.m.

Panel Version: 0.622

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Neuropathy, hereditary motor and sensory, type VIB, MIM# 616505; Pontocerebellar hypoplasia, type 1E, MIM# 619303

Publications

• 30178502
• 26168012
• 27543974
• 27430653
• 27390132
• 28934388
• 28558379