Mitochondrial disorders
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
Ellen McDonagh (Genomics England Curator)
Comment on list classification: PMID: 26168012 is a report of homozygous/compound heterozygous mutations associated with optic atrophy in four families, with functional assays in zebrafish demonstrating loss of function of the gene effects development and maintence of neurons.Created: 15 Feb 2016, 5:26 p.m.
Shamima Rahman (UCL Institute of Child Health)
single mutation report in literatureCreated: 7 Feb 2016, 10:20 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Victorian Clinical Genetics Services
- Expert Review Green
- Phenotypes
-
- optic atrophy spectrum disorder
- OMIM
- 610826
- Clinvar variants
- Variants in SLC25A46
- Penetrance
- Complete
- Publications
-
- PMID: 26168012
- 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
28 Aug 2018, Gel status: 4
Added New Source
Sarah Leigh (Genomics England Curator)Victorian Clinical Genetics Services was added to SLC25A46. Panel: Mitochondrial disorders
15 Feb 2016, Gel status: 4
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
15 Feb 2016, Gel status: 4
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
7 Feb 2016, Gel status: 0
Created
Shamima Rahman (UCL Institute of Child Health)SLC25A46 was created by [email protected]
7 Feb 2016, Gel status: 0
Added New Source
Shamima Rahman (UCL Institute of Child Health)SLC25A46 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert list