Mitochondrial disorders
Gene: SLC25A12EnsemblGeneIds (GRCh38): ENSG00000115840
EnsemblGeneIds (GRCh37): ENSG00000115840
OMIM: 603667, Gene2Phenotype
SLC25A12 is in 9 panels
3 reviews
Sarah Leigh (Genomics England Curator)
Comment on list classification: Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. At least 3 biallelic variants reported in unrelated cases.Created: 25 Apr 2019, 2:20 p.m.
Zornitza Stark (Australian Genomics)
Three unrelated families reported in the literature to date; gene encodes a mitochondrial carrier protein.Created: 1 Sep 2018, 3:46 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Epileptic encephalopathy, early infantile, 39, MIM#612949
Publications
Variants in this GENE are reported as part of current diagnostic practice
Shamima Rahman (UCL Institute of Child Health)
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Victorian Clinical Genetics Services
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Epileptic encephalopathy, early infantile, 39 612949
- OMIM
- 603667
- Clinvar variants
- Variants in SLC25A12
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Undiagnosed metabolic disorders
- White matter disorders and cerebral calcification - narrow panel
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
- Likely inborn error of metabolism
- Mitochondrial disorders
- Possible mitochondrial disorder - nuclear genes
- Early onset or syndromic epilepsy
- Inherited white matter disorders
History Filter Activity
Entity classified by Genomics England curator
Sarah Leigh (Genomics England Curator)Gene: slc25a12 has been classified as Green List (High Evidence).
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for gene: SLC25A12 were changed from Hypomyelination, global cerebral, 612949 to Epileptic encephalopathy, early infantile, 39 612949
Set publications
Sarah Leigh (Genomics England Curator)Publications for gene: SLC25A12 were set to
Set mode of inheritance
Sarah Leigh (Genomics England Curator)Mode of inheritance for gene: SLC25A12 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added New Source
Sarah Leigh (Genomics England Curator)Victorian Clinical Genetics Services was added to SLC25A12. Panel: Mitochondrial disorders
Added New Source
Ellen McDonagh (Genomics England Curator)SLC25A12 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Radboud University Medical Center, Nijmegen