TEST Undiagnosed metabolic disorders
Gene: SLC25A46

SLC25A46 (solute carrier family 25 member 46)
EnsemblGeneIds (GRCh38): ENSG00000164209
EnsemblGeneIds (GRCh37): ENSG00000164209
OMIM: 610826, Gene2Phenotype
SLC25A46 is in 16 panels

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Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green

OMIM

610826

Clinvar variants

Variants in SLC25A46

Penetrance

None

Publications

26168012

Panels with this gene

Childhood onset dystonia, chorea or related movement disorder
Undiagnosed metabolic disorders
Adult onset neurodegenerative disorder
Ataxia and cerebellar anomalies - narrow panel
Optic neuropathy
Mitochondrial disorders
Retinal disorders
Likely inborn error of metabolism
Hereditary ataxia with onset in adulthood
Possible mitochondrial disorder - nuclear genes
Hereditary spastic paraplegia
Hereditary neuropathy or pain disorder
Fetal anomalies
Adult onset hereditary spastic paraplegia
Hereditary neuropathy
Childhood onset hereditary spastic paraplegia

History Filter Activity

20 Aug 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set publications

Sarah Leigh (Genomics England Curator)

gene: SLC25A46 was added gene: SLC25A46 was added to TEST Undiagnosed metabolic disorders. Sources: Expert Review Green Mode of inheritance for gene: SLC25A46 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC25A46 were set to 26168012

TEST Undiagnosed metabolic disorders Gene: SLC25A46

0 reviews

Details

History Filter Activity

Created, Added New Source, Set mode of inheritance, Set publications

TEST Undiagnosed metabolic disorders
Gene: SLC25A46