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Inborn errors of metabolism

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 16 panels

3 reviews

Catherine Snow (Genomics England)

Comment on mode of inheritance: The MOI was changed for consistency between panels Mitochondrial DNA maintenance disorder (code: 533) and Possible mitochondrial disorder - nuclear genes (code: 539).
Created: 14 Nov 2019, 11:03 a.m. | Last Modified: 14 Nov 2019, 11:03 a.m.
Panel Version: 1.396

Carl Fratter (Oxford University Hospitals NHS Trust)

Green List (high evidence)

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Variants in this GENE are reported as part of current diagnostic practice

Shamima Rahman (UCL Institute of Child Health)

Green List (high evidence)

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Progressive External Ophthalmoplegia with Mitochondrial DNADeletions
  • Required for mtDNA maintenance (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
  • Disorders of mitochondrial DNA maintenance and integrity
  • Disorders of mitochondrial protein transport
  • Progressive external ophthalmoplegia with mitochondrial DNA deletions 3, 609283
  • Mitochondrial DNA depletion syndrome 12 (cardiomyopathic type), 615418
OMIM
103220
Clinvar variants
Variants in SLC25A4
Penetrance
None
Publications
Panels with this gene

History Filter Activity

14 Nov 2019, Gel status: 3

Set mode of inheritance

Catherine Snow (Genomics England)

Mode of inheritance for gene: SLC25A4 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

13 Feb 2019, Gel status: 4

Added New Source, Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to SLC25A4. Source London North GLH was added to SLC25A4.

24 Jan 2019, Gel status: 4

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Phenotypes for gene: SLC25A4 were changed from Progressive External Ophthalmoplegia with Mitochondrial DNADeletions; Required for mtDNA maintenance (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Disorders of mitochondrial DNA maintenance and integrity; Disorders of mitochondrial protein transport; Progressive external ophthalmoplegia with mitochondrial DNA deletions 3, 609283Mitochondrial DNA depletion syndrome 12 (cardiomyopathic type), 615418 to Progressive External Ophthalmoplegia with Mitochondrial DNADeletions; Required for mtDNA maintenance (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Disorders of mitochondrial DNA maintenance and integrity; Disorders of mitochondrial protein transport; Progressive external ophthalmoplegia with mitochondrial DNA deletions 3, 609283; Mitochondrial DNA depletion syndrome 12 (cardiomyopathic type), 615418

8 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Ellen McDonagh: Comment on mode of pathogenici

16 Dec 2018, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Added phenotypes Progressive External Ophthalmoplegia with Mitochondrial DNADeletions; Disorders of mitochondrial DNA maintenance and integrity; Disorders of mitochondrial protein transport; Progressive external ophthalmoplegia with mitochondrial DNA deletions 3, 609283Mitochondrial DNA depletion syndrome 12 (cardiomyopathic type), 615418 for gene: SLC25A4

16 Dec 2018, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

gene: SLC25A4 was added gene: SLC25A4 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: SLC25A4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SLC25A4 were set to 27604308 Phenotypes for gene: SLC25A4 were set to Progressive External Ophthalmoplegia with Mitochondrial DNADeletions; Disorders of mitochondrial protein transport; Disorders of mitochondrial DNA maintenance and integrity; Required for mtDNA maintenance (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Progressive external ophthalmoplegia with mitochondrial DNA deletions 3, 609283Mitochondrial DNA depletion syndrome 12 (cardiomyopathic type), 615418