Inherited white matter disorders
Gene: SLC25A12
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
General Leukodystrophy & Mitochondrial Leukoencephalopathy
Publications
Variants in this GENE are reported as part of current diagnostic practice
Comment when marking as ready: At least 3 variants reported in this phenotype.Created: 6 Jul 2016, 12:39 p.m.
Comment on list classification: Provisionally accepted by UKGTN for Combined leukodystrophy/mitochondrial leukoencephalopathy 94-gene panel (Ian Berry)Created: 6 Jul 2016, 12:38 p.m.
6th Oct 2016: Panel promoted to version 1 after expert review and input, further curation and clinical input.
This gene has been classified as Green List (High Evidence).
Phenotypes for SLC25A12 were set to Hypomyelination, global cerebral 612949
This gene has been classified as Green List (High Evidence).
Publications for SLC25A12 were set to 27290639; 25655951; 19641205; 24515575
Mode of inheritance for SLC25A12 was changed to BIALLELIC, autosomal or pseudoautosomal
SLC25A12 was added to Inherited white matter disorderspanel. Sources: Illumina TruGenome Clinical Sequencing Services,Expert list
SLC25A12 was added to Inherited white matter disorderspanel. Sources: Radboud University Medical Center, Nijmegen
SLC25A12 was created by ellenmcdonagh