Inherited white matter disorders

Gene: SLC25A4

Green List (high evidence)

SLC25A4 (solute carrier family 25 member 4)
EnsemblGeneIds (GRCh38): ENSG00000151729
EnsemblGeneIds (GRCh37): ENSG00000151729
OMIM: 103220, Gene2Phenotype
SLC25A4 is in 17 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)

Green List (high evidence)

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

History Filter Activity

23 Jun 2020, Gel status: 3

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

23 Jun 2020, Gel status: 3

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: SLC25A4 were set to 25655951; 27693233; 30013777; 12112115

23 Jun 2020, Gel status: 3

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: SLC25A4 were set to 25655951; 27693233; 30013777

23 Jun 2020, Gel status: 3

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

23 Jun 2020, Gel status: 3

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: SLC25A4 were set to 25655951; 27693233

23 Jun 2020, Gel status: 3

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

6 Oct 2016, Gel status: 4

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.

6 Oct 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen Thomas (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

6 Oct 2016, Gel status: 4

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

6 Oct 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen Thomas (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

25 Aug 2016, Gel status: 2

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

25 Aug 2016, Gel status: 0

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been removed from the panel.

4 Aug 2016, Gel status: 0

Added New Source

Ian Berry (Leeds Genetics Laboratory)

SLC25A4 was added to Inherited white matter disorderspanel. Sources: Expert list

4 Aug 2016, Gel status: 0

Created

Ian Berry (Leeds Genetics Laboratory)

SLC25A4 was created by [email protected]