Mitochondrial disease
Gene: SLC25A10EnsemblGeneIds (GRCh38): ENSG00000183048
EnsemblGeneIds (GRCh37): ENSG00000183048
OMIM: 606794, Gene2Phenotype
SLC25A10 is in 2 panels
2 reviews
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Single individual reported, OMIM phenotype now assigned.Created: 5 Aug 2020, 8:31 p.m. | Last Modified: 5 Aug 2020, 8:31 p.m.
Panel Version: 0.458
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mitochondrial DNA depletion syndrome 19, MIM# 618972
Publications
Bryony Thompson (Royal Melbourne Hospital)
One case with intractable epileptic encephalopathy with complex I deficiency, with biallelic variants. Yeast SLC25A10 ortholog lack-of-function causes impairment in mitochondrial respiration, reduced mtDNA copy number and oxidative stress vulnerability
Sources: NHS GMSCreated: 20 Mar 2020, 6:45 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Intractable epileptic encephalopathy
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Amber
- NHS GMS
- Phenotypes
-
- Intractable epileptic encephalopathy
- Mitochondrial DNA depletion syndrome 19, MIM# 618972
- OMIM
- 606794
- Clinvar variants
- Variants in SLC25A10
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: SLC25A10 were changed from Intractable epileptic encephalopathy to Intractable epileptic encephalopathy; Mitochondrial DNA depletion syndrome 19, MIM# 618972
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: slc25a10 has been classified as Amber List (Moderate Evidence).
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: slc25a10 has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: SLC25A10 was added gene: SLC25A10 was added to Mitochondrial disease. Sources: NHS GMS Mode of inheritance for gene: SLC25A10 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC25A10 were set to 29211846 Phenotypes for gene: SLC25A10 were set to Intractable epileptic encephalopathy Review for gene: SLC25A10 was set to AMBER