Hereditary spastic paraplegia
Gene: SLC25A46
SLC25A46 (solute carrier family 25 member 46)
EnsemblGeneIds (GRCh38): ENSG00000164209
EnsemblGeneIds (GRCh37): ENSG00000164209
OMIM: 610826, Gene2Phenotype
SLC25A46 is in 16 panels
EnsemblGeneIds (GRCh38): ENSG00000164209
EnsemblGeneIds (GRCh37): ENSG00000164209
OMIM: 610826, Gene2Phenotype
SLC25A46 is in 16 panels
2 reviews
Louise Daugherty (Genomics England Curator)
Gene to be reviewed again after the GMS Neurology specialist test group have reviewed and agreed rating of gene on the Hereditary spastic paraplegia - childhood onset panel on May 2019Created: 3 May 2019, 9:06 a.m.
Sarah Leigh (Genomics England Curator)
Associated with phenotype in OMIM, not in G2P. At least 10 variants reportedCreated: 15 Sep 2017, 2:59 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Neuropathy, hereditary motor and sensory, type VIB 616505
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Literature
- Phenotypes
-
- Neuropathy, hereditary motor and sensory, type VIB 616505
- OMIM
- 610826
- Clinvar variants
- Variants in SLC25A46
- Penetrance
- Complete
- 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
15 Sep 2017, Gel status: 4
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
15 Sep 2017, Gel status: 0
Created
Sarah Leigh (Genomics England Curator)SLC25A46 was created by sleigh
15 Sep 2017, Gel status: 0
Added New Source
Sarah Leigh (Genomics England Curator)SLC25A46 was added to Hereditary spastic paraplegiapanel. Sources: Literature