Inherited white matter disorders
Gene: SLC25A4EnsemblGeneIds (GRCh38): ENSG00000151729
EnsemblGeneIds (GRCh37): ENSG00000151729
OMIM: 103220, Gene2Phenotype
SLC25A4 is in 15 panels
4 reviews
Sarah Leigh (Genomics England Curator)
Comment 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
Ellen Thomas (Genomics England Curator)
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.
Ellen McDonagh (Genomics England Curator)
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.
Ian Berry (Leeds Genetics Laboratory)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
General Leukodystrophy & Mitochondrial Leukoencephalopathy
Publications
- Parikh et al. Molecular Genetics and Metabolism 114 (2015) 501_681
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- 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
- OMIM
- 103220
- Clinvar variants
- Variants in SLC25A4
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Mitochondrial DNA maintenance disorder
- Mitochondrial disorders
- DDG2P
- Inherited white matter disorders
- Likely inborn error of metabolism
- Possible mitochondrial disorder - nuclear genes
- Congenital myopathy
- Hypertrophic cardiomyopathy
- Arthrogryposis
- Paediatric or syndromic cardiomyopathy
- Fetal anomalies
- Undiagnosed metabolic disorders
- White matter disorders and cerebral calcification - narrow panel
- Sudden death in young people
- Childhood onset dystonia, chorea or related movement disorder
History Filter Activity
Set mode of inheritance
Sarah Leigh (Genomics England Curator)Mode of inheritance for gene: SLC25A4 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Set publications
Sarah Leigh (Genomics England Curator)Publications for gene: SLC25A4 were set to 25655951; 27693233; 30013777; 12112115
Set publications
Sarah Leigh (Genomics England Curator)Publications for gene: SLC25A4 were set to 25655951; 27693233; 30013777
Set Phenotypes
Sarah Leigh (Genomics England Curator)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
Set publications
Sarah Leigh (Genomics England Curator)Publications for gene: SLC25A4 were set to 25655951; 27693233
Set publications
Sarah Leigh (Genomics England Curator)Publications for gene: SLC25A4 were set to Parikh et al. Molecular Genetics and Metabolism 114 (2015) 501_578; PMID: 27693233
panel promoted to version 1
Ellen McDonagh (Genomics England Curator)6th Oct 2016: Panel promoted to version 1 after expert review and input, further curation and clinical input.
Gene classified by Genomics England curator
Ellen Thomas (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set publications
Ellen Thomas (Genomics England Curator)Publications for SLC25A4 were set to Parikh et al. Molecular Genetics and Metabolism 114 (2015) 501_578; PMID: 27693233
Gene classified by Genomics England curator
Ellen Thomas (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Amber List (Moderate Evidence).
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been removed from the panel.
Added New Source
Ian Berry (Leeds Genetics Laboratory)SLC25A4 was added to Inherited white matter disorderspanel. Sources: Expert list
Created
Ian Berry (Leeds Genetics Laboratory)SLC25A4 was created by [email protected]