Inborn errors of metabolismGene: SLC25A12
This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype.
Created: 23 Sep 2019, 4:07 p.m. | Last Modified: 23 Sep 2019, 4:07 p.m.
Panel Version: 1.277
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.
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
Epileptic encephalopathy, early infantile, 39, MIM#612949
Variants in this GENE are reported as part of current diagnostic practice
Source Expert Review Green was added to SLC25A12. Added phenotypes Epileptic encephalopathy, early infantile, 39 612949 for gene: SLC25A12 Publications for gene SLC25A12 were changed from 27604308 to 19641205; 27290639; 24515575 Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Source NHS GMS was added to SLC25A12. Source London North GLH was added to SLC25A12.
Sarah Leigh: Associated with relevant pheno
Added phenotypes Hypomyelination, global cerebral, 612949 for gene: SLC25A12
gene: SLC25A12 was added gene: SLC25A12 was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: SLC25A12 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC25A12 were set to 27604308 Phenotypes for gene: SLC25A12 were set to Disorders of mitochondrial solute import (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Inherited white matter disorders