Ataxia - paediatric
Gene: 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. 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.Created: 17 Apr 2020, 12:53 a.m. | Last Modified: 9 May 2021, 11:23 p.m.
Panel Version: 0.279
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Neuropathy, hereditary motor and sensory, type VIB, MIM# 616505; Pontocerebellar hypoplasia, type 1E, MIM# 619303
Publications
Phenotypes for gene: SLC25A46 were changed from Hereditary motor and sensory neuropathy type VIB, MIM#616505 to Hereditary motor and sensory neuropathy type VIB, MIM#616505; Pontocerebellar hypoplasia, type 1E, MIM# 619303
Phenotypes for gene: SLC25A46 were changed from Hereditary motor and sensory neuropathy type VIB, 616505 to Hereditary motor and sensory neuropathy type VIB, MIM#616505
Publications for gene: SLC25A46 were set to
Gene: slc25a46 has been classified as Green List (High Evidence).
gene: SLC25A46 was added gene: SLC25A46 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: SLC25A46 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC25A46 were set to Hereditary motor and sensory neuropathy type VIB, 616505