SLC25A46 Chromosome 5
Solute carrier family 25 member 46
Upload your DNA to see your personal genotypes for variants in SLC25A46.
What This Gene Does
This gene encodes a mitochondrial solute carrier protein family member. It functions in promoting mitochondrial fission, and prevents the formation of hyperfilamentous mitochondria. Mutation of this gene results in neuropathy and optic atrophy. [provided by RefSeq, Aug 2016]
Gene Info
Gene Group
Solute carrier family 25
Locus Type
gene with protein product
Location
5q22.1
Ensembl
ENSG00000164209
Associated Conditions (10)
Neuropathy
hereditary motor and sensory
type 6B
Inborn genetic diseases
SLC25A46-related disorder
SLC25A46-associated optic atrophy spectrum disorder
Spastic ataxia
Intellectual disability
Pontocerebellar hypoplasia
type 1E
Key Variants
RS1022269942
Conflicting classifications of pathogenicity
Neuropathy, hereditary motor and sensory, type 6B
Health Risk
RS149585060
Conflicting classifications of pathogenicity
Neuropathy, hereditary motor and sensory, type 6B
Health Risk
RS1561610094
Conflicting classifications of pathogenicity
Neuropathy, hereditary motor and sensory, type 6B
Health Risk
RS1580870952
Conflicting classifications of pathogenicity
SLC25A46-associated optic atrophy spectrum disorder, Neuropathy, hereditary motor and sensory
Health Risk
RS200566665
Conflicting classifications of pathogenicity
Neuropathy, hereditary motor and sensory, type 6B
Health Risk
RS374899270
Conflicting classifications of pathogenicity
Neuropathy, hereditary motor and sensory, type 6B
Health Risk
RS377289513
Conflicting classifications of pathogenicity
Neuropathy, hereditary motor and sensory, type 6B
Health Risk
RS751900293
Conflicting classifications of pathogenicity
Neuropathy, hereditary motor and sensory, type 6B
Health Risk
RS761276607
Conflicting classifications of pathogenicity
Neuropathy, hereditary motor and sensory, type 6B
Health Risk
RS892374338
Conflicting classifications of pathogenicity
Neuropathy, hereditary motor and sensory, type 6B
Health Risk
RS908180041
Conflicting classifications of pathogenicity
Inborn genetic diseases, Neuropathy, hereditary motor and sensory
Health Risk
RS1057518749
Likely pathogenic
Pontocerebellar hypoplasia, type 1E, Pontocerebellar hypoplasia
Health Risk
All Variants (40)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1022269942 | Health Risk | Conflicting classifications of pathogenicity | Neuropathy, hereditary motor and sensory, type 6B |
| RS149585060 | Health Risk | Conflicting classifications of pathogenicity | Neuropathy, hereditary motor and sensory, type 6B |
| RS1561610094 | Health Risk | Conflicting classifications of pathogenicity | Neuropathy, hereditary motor and sensory, type 6B |
| RS1580870952 | Health Risk | Conflicting classifications of pathogenicity | SLC25A46-associated optic atrophy spectrum disorder, Neuropathy, hereditary motor and sensory |
| RS200566665 | Health Risk | Conflicting classifications of pathogenicity | Neuropathy, hereditary motor and sensory, type 6B |
| RS374899270 | Health Risk | Conflicting classifications of pathogenicity | Neuropathy, hereditary motor and sensory, type 6B |
| RS377289513 | Health Risk | Conflicting classifications of pathogenicity | Neuropathy, hereditary motor and sensory, type 6B |
| RS751900293 | Health Risk | Conflicting classifications of pathogenicity | Neuropathy, hereditary motor and sensory, type 6B |
| RS761276607 | Health Risk | Conflicting classifications of pathogenicity | Neuropathy, hereditary motor and sensory, type 6B |
| RS892374338 | Health Risk | Conflicting classifications of pathogenicity | Neuropathy, hereditary motor and sensory, type 6B |
| RS908180041 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Neuropathy, hereditary motor and sensory |
| RS1057518749 | Health Risk | Likely pathogenic | Pontocerebellar hypoplasia, type 1E, Pontocerebellar hypoplasia |
| RS1171977270 | Health Risk | Likely pathogenic | Neuropathy, hereditary motor and sensory, type 6B |
| RS1184021143 | Health Risk | Likely pathogenic | Neuropathy, hereditary motor and sensory, type 6B |
| RS1278362025 | Health Risk | Likely pathogenic | Neuropathy, hereditary motor and sensory, type 6B |
| RS1554093168 | Health Risk | Likely pathogenic | Neuropathy, hereditary motor and sensory, type 6B |
| RS1580858058 | Health Risk | Likely pathogenic | SLC25A46-associated optic atrophy spectrum disorder, SLC25A46-associated optic atrophy spectrum disorder |
| RS1580870705 | Health Risk | Likely pathogenic | Neuropathy, hereditary motor and sensory, type 6B |
| RS1799815535 | Health Risk | Likely pathogenic | Neuropathy, hereditary motor and sensory, type 6B |
| RS2547533578 | Health Risk | Likely pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS1057518748 | Health Risk | Pathogenic | Neuropathy, hereditary motor and sensory, type 6B |
| RS1057518750 | Health Risk | Pathogenic | Pontocerebellar hypoplasia, type 1E, Pontocerebellar hypoplasia |
| RS1057519294 | Health Risk | Pathogenic | Pontocerebellar hypoplasia, type 1E, Pontocerebellar hypoplasia |
| RS1057519295 | Health Risk | Pathogenic | Neuropathy, hereditary motor and sensory, type 6B |
| RS1057519296 | Health Risk | Pathogenic | Pontocerebellar hypoplasia, type 1E, Pontocerebellar hypoplasia |
| RS1057519416 | Health Risk | Pathogenic | Neuropathy, hereditary motor and sensory, type 6B |
| RS1064795772 | Health Risk | Pathogenic | Inborn genetic diseases, Neuropathy, hereditary motor and sensory |
| RS1371249361 | Health Risk | Pathogenic | Neuropathy, hereditary motor and sensory, type 6B |
| RS1561602892 | Health Risk | Pathogenic | Pontocerebellar hypoplasia, type 1E, Neuropathy |
| RS1580849841 | Health Risk | Pathogenic | Neuropathy, hereditary motor and sensory, type 6B |
| RS1799544883 | Health Risk | Pathogenic | Neuropathy, hereditary motor and sensory, type 6B |
| RS1799819389 | Health Risk | Pathogenic | Neuropathy, hereditary motor and sensory, type 6B |
| RS1800243948 | Health Risk | Pathogenic | Neuropathy, hereditary motor and sensory, type 6B |
| RS2547522906 | Health Risk | Pathogenic | Neuropathy, hereditary motor and sensory, type 6B |
| RS2547528702 | Health Risk | Pathogenic | Neuropathy, hereditary motor and sensory, type 6B |
| RS530045841 | Health Risk | Pathogenic | Neuropathy, hereditary motor and sensory, type 6B |
| RS751101419 | Health Risk | Pathogenic | Pontocerebellar hypoplasia, type 1E, Pontocerebellar hypoplasia |
| RS771761288 | Health Risk | Pathogenic | Pontocerebellar hypoplasia, type 1E, Pontocerebellar hypoplasia |
| RS2547519976 | Health Risk | Pathogenic/Likely pathogenic | Neuropathy, hereditary motor and sensory, type 6B |
| RS746681765 | Health Risk | Pathogenic/Likely pathogenic | Neuropathy, hereditary motor and sensory, type 6B |