Hereditary Neuropathy - complex
Gene: SLC25A46EnsemblGeneIds (GRCh38): ENSG00000164209
EnsemblGeneIds (GRCh37): ENSG00000164209
OMIM: 610826, Gene2Phenotype
SLC25A46 is in 9 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Multiple families reported. Clinical presentation is highly variable. Complex progressive neurologic disorder characterised 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 may show abnormal movements, such as ataxia, dysmetria, and myoclonus. The most severely affected patients are hypotonic at birth and die in infancy. New PCH disease entity added by OMIM in 2021 to reflect the more severe end of the spectrum.
Sources: Expert listCreated: 2 Apr 2020, 7:18 a.m. | Last Modified: 9 May 2021, 11:24 p.m.
Panel Version: 0.107
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Neuropathy, hereditary motor and sensory, type VIB, MIM# 616505; Pontocerebellar hypoplasia, type 1E, MIM# 619303
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert list
- Phenotypes
-
- Neuropathy, hereditary motor and sensory, type VIB, MIM# 616505
- Pontocerebellar hypoplasia, type 1E, MIM# 619303
- OMIM
- 610826
- Clinvar variants
- Variants in SLC25A46
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: SLC25A46 were changed from Neuropathy, hereditary motor and sensory, type VIB, MIM# 616505 to Neuropathy, hereditary motor and sensory, type VIB, MIM# 616505; Pontocerebellar hypoplasia, type 1E, MIM# 619303
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: slc25a46 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: slc25a46 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: SLC25A46 was added gene: SLC25A46 was added to Hereditary Neuropathy - complex. Sources: Expert list Mode of inheritance for gene: SLC25A46 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC25A46 were set to 26168012; 27543974 Phenotypes for gene: SLC25A46 were set to Neuropathy, hereditary motor and sensory, type VIB, MIM# 616505 Review for gene: SLC25A46 was set to GREEN