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Severe Paediatric Disorders

Gene: SLC25A42

Green List (high evidence)

SLC25A42 (solute carrier family 25 member 42)
EnsemblGeneIds (GRCh38): ENSG00000181035
EnsemblGeneIds (GRCh37): ENSG00000181035
OMIM: 610823, Gene2Phenotype
SLC25A42 is in 7 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: SLC25A42; Recommended initial gene rating: Green List (high evidence); Phenotypes: Metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression, 618416 (3); Mode of inheritance: Autosomal recessive
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
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Next Generation Children Project
  • Expert Review Green
  • Expert list
Phenotypes
  • Metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression, 618416
OMIM
610823
Clinvar variants
Variants in SLC25A42
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 SLC25A42 were updated from to 30847515

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression, 618416 for gene: SLC25A42

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression, 618416 for gene: SLC25A42

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression, 618416 for gene: SLC25A42

19 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression, 618416 for gene: SLC25A42

19 Feb 2020, Gel status: 3

Set mode of inheritance, Set Phenotypes

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene SLC25A42 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression, 618416 for gene: SLC25A42

14 Feb 2020, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source Next Generation Children Project was added to SLC25A42.

14 Feb 2020, Gel status: 3

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source Expert Review Green was added to SLC25A42. 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: SLC25A42 was added gene: SLC25A42 was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: SLC25A42 was set to