Adult onset hereditary spastic paraplegia
Gene: SLC25A46EnsemblGeneIds (GRCh38): ENSG00000164209
EnsemblGeneIds (GRCh37): ENSG00000164209
OMIM: 610826, Gene2Phenotype
SLC25A46 is in 16 panels
3 reviews
Nick Beauchamp (Sheffield Diagnostic Genetics Service)
Childhood onset; a single family with mild spasticity.Created: 10 May 2019, 9:46 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Publications
Louise Daugherty (Genomics England Curator)
Review and rating submitted byJames Polke (Neurogenetics Laboratory,Institute of Neurology, London), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.Created: 9 May 2019, 4:50 p.m.
James Polke (Neurogenetics Laboratory, Institute of Neurology, London)
Victoria: causes Neuropathy, hereditary motor and sensory, type VIB and pontocerebellar hypoplasiaCreated: 25 Apr 2019, 1:22 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Neuropathy, hereditary motor and sensory, type VIB, 616505
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Yorkshire and North East GLH
- Expert Review Red
- NHS GMS
- London North GLH
- Phenotypes
-
- Neuropathy, hereditary motor and sensory, type VIB, 616505
- OMIM
- 610826
- Clinvar variants
- Variants in SLC25A46
- Penetrance
- None
- Publications
- Panels with this gene
-
- Hereditary neuropathy
- Mitochondrial disorders
- Optic neuropathy
- Adult onset neurodegenerative disorder
- Retinal disorders
- Likely inborn error of metabolism
- Hereditary ataxia with onset in adulthood
- Ataxia and cerebellar anomalies - narrow panel
- Possible mitochondrial disorder - nuclear genes
- Hereditary spastic paraplegia
- Adult onset hereditary spastic paraplegia
- Fetal anomalies
- Hereditary neuropathy or pain disorder
- Undiagnosed metabolic disorders
- Childhood onset hereditary spastic paraplegia
- Childhood onset dystonia, chorea or related movement disorder
History Filter Activity
Set publications
Louise Daugherty (Genomics England Curator)Publications for gene: SLC25A46 were set to
Added New Source
Louise Daugherty (Genomics England Curator)Source Yorkshire and North East GLH was added to SLC25A46.
Added New Source, Set mode of inheritance, Set Phenotypes
Louise Daugherty (Genomics England Curator)Source Expert Review Red was added to SLC25A46. Mode of inheritance for gene SLC25A46 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Neuropathy, hereditary motor and sensory, type VIB, 616505 for gene: SLC25A46
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to SLC25A46.
Created, Added New Source, Set mode of inheritance
Louise Daugherty (Genomics England Curator)gene: SLC25A46 was added gene: SLC25A46 was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH Mode of inheritance for gene: SLC25A46 was set to