Mitochondrial disorders
Gene: SLC25A12Comment 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.
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
Gene: slc25a12 has been classified as Green List (High Evidence).
Phenotypes for gene: SLC25A12 were changed from Hypomyelination, global cerebral, 612949 to Epileptic encephalopathy, early infantile, 39 612949
Publications for gene: SLC25A12 were set to
Mode of inheritance for gene: SLC25A12 was changed from to BIALLELIC, autosomal or pseudoautosomal
Victorian Clinical Genetics Services was added to SLC25A12. Panel: Mitochondrial disorders
SLC25A12 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Radboud University Medical Center, Nijmegen