1. Panels
  2. Research panel - Severe Paediatric Disorders
  3. SLC25A4
Genes in panel
Prev Next
STRs in panel
Prev Next
Regions in panel
Prev Next

Research panel - Severe Paediatric 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 15 panels

1 review

Louise Daugherty (Genomics England Curator)

I don't know

Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: SLC25A4; Recommended initial gene rating: Green List (high evidence); Phenotypes: Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) AD, 617184 (3) | Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) AR, 615418 (3) | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2, 609283 (3); Mode of inheritance: Autosomal dominant | Autosomal recessive | Autosomal dominant
Created: 20 Feb 2020, 5:25 p.m. | Last Modified: 20 Feb 2020, 5:25 p.m.
Panel Version: 0.12
Created: 20 Feb 2020, 5:25 p.m.
Last Modified: 20 Feb 2020, 5:25 p.m.
Panel version: 0.12

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Next Generation Children Project
  • Expert Review Green
  • Expert list
Phenotypes
  • Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) AR, 615418
  • Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2, 609283
  • Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) AD, 617184
OMIM
103220
Clinvar variants
Variants in SLC25A4
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Feb 2020, Gel status: 3

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene SLC25A4 were updated from to 30847515

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) AR, 615418; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2, 609283; Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) AD, 617184 for gene: SLC25A4

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) AR, 615418; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2, 609283; Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) AD, 617184 for gene: SLC25A4

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) AR, 615418; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2, 609283; Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) AD, 617184 for gene: SLC25A4

19 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2, 609283; Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) AD, 617184; Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) AR, 615418 for gene: SLC25A4

19 Feb 2020, Gel status: 3

Set mode of inheritance, Set Phenotypes

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene SLC25A4 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Added phenotypes Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) AR, 615418; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2, 609283; Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) AD, 617184 for gene: SLC25A4

14 Feb 2020, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source Next Generation Children Project was added to SLC25A4.

14 Feb 2020, Gel status: 3

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source Expert Review Green was added to SLC25A4. Rating Changed from Red List (low evidence) to Green List (high evidence)

14 Feb 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: SLC25A4 was added gene: SLC25A4 was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: SLC25A4 was set to