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Severe Paediatric Disorders

Gene: SLC25A1

Green List (high evidence)

SLC25A1 (solute carrier family 25 member 1)
EnsemblGeneIds (GRCh38): ENSG00000100075
EnsemblGeneIds (GRCh37): ENSG00000100075
OMIM: 190315, Gene2Phenotype
SLC25A1 is in 11 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: SLC25A1; Recommended initial gene rating: Green List (high evidence); Phenotypes: Combined D-2- and L-2-hydroxyglutaric aciduria, 615182 (3) | ?Myasthenic syndrome, congenital, 23, presynaptic, 618197 (3); Mode of inheritance: Autosomal recessive | 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
  • ?Myasthenic syndrome, congenital, 23, presynaptic, 618197
  • Combined D-2- and L-2-hydroxyglutaric aciduria, 615182
OMIM
190315
Clinvar variants
Variants in SLC25A1
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 SLC25A1 were updated from to 30847515

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Combined D-2- and L-2-hydroxyglutaric aciduria, 615182; ?Myasthenic syndrome, congenital, 23, presynaptic, 618197 for gene: SLC25A1

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Combined D-2- and L-2-hydroxyglutaric aciduria, 615182; ?Myasthenic syndrome, congenital, 23, presynaptic, 618197 for gene: SLC25A1

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Combined D-2- and L-2-hydroxyglutaric aciduria, 615182; ?Myasthenic syndrome, congenital, 23, presynaptic, 618197 for gene: SLC25A1

19 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes ?Myasthenic syndrome, congenital, 23, presynaptic, 618197; Combined D-2- and L-2-hydroxyglutaric aciduria, 615182 for gene: SLC25A1

19 Feb 2020, Gel status: 3

Set mode of inheritance, Set Phenotypes

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene SLC25A1 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Combined D-2- and L-2-hydroxyglutaric aciduria, 615182; ?Myasthenic syndrome, congenital, 23, presynaptic, 618197 for gene: SLC25A1

14 Feb 2020, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source Next Generation Children Project was added to SLC25A1.

14 Feb 2020, Gel status: 3

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source Expert Review Green was added to SLC25A1. 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: SLC25A1 was added gene: SLC25A1 was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: SLC25A1 was set to