Inherited white matter disorders
Gene: SLC25A4Comment on mode of inheritance: At least two cases of white matter lesions have been reported with de novo variants in SLC25A4 (PMID 12112115; 27693233).Created: 23 Jun 2020, 3:26 p.m. | Last Modified: 23 Jun 2020, 3:26 p.m.
Panel Version: 1.76
Comment on list classification: Clear mitochondrial phenotype; white matter abnormalities have been rarely reported with de novo mutations causing a severe phenotype in neonates.Created: 6 Oct 2016, 10:02 a.m.
Comment on list classification: Gene rated green and diagnostic-grade by expert reviewer. 2 cases with different variants reported in OMIM. On the Minimum recommended gene list for broad spectrum genetic testing for single-nucleotide variants associated with leukodystrophies and genetic leukoencephalopathies reported in PMID: 25655951 for Mitochondrial DNA depletion syndrome 12. Green gene in the Mitochondrial panel version 1.10.
Created: 25 Aug 2016, 12:27 p.m.
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
Mode of inheritance for gene: SLC25A4 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: SLC25A4 were set to 25655951; 27693233; 30013777; 12112115
Publications for gene: SLC25A4 were set to 25655951; 27693233; 30013777
Phenotypes for gene: SLC25A4 were changed from Mitochondrial Leukoencephalopathy to Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) AD 617184; Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) AR 615418; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2 609283
Publications for gene: SLC25A4 were set to 25655951; 27693233
Publications for gene: SLC25A4 were set to Parikh et al. Molecular Genetics and Metabolism 114 (2015) 501_578; PMID: 27693233
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).
Publications for SLC25A4 were set to Parikh et al. Molecular Genetics and Metabolism 114 (2015) 501_578; PMID: 27693233
This gene has been classified as Green List (High Evidence).
This gene has been classified as Amber List (Moderate Evidence).
This gene has been removed from the panel.
SLC25A4 was added to Inherited white matter disorderspanel. Sources: Expert list
SLC25A4 was created by [email protected]