1. Panels
  2. Research panel - Severe Paediatric Disorders
  3. SLC2A1
Genes in panel
Prev Next
STRs in panel
Prev Next
Regions in panel
Prev Next

Research panel - Severe Paediatric Disorders

Gene: SLC2A1

Green List (high evidence)
SLC2A1 (solute carrier family 2 member 1)
EnsemblGeneIds (GRCh38): ENSG00000117394
EnsemblGeneIds (GRCh37): ENSG00000117394
OMIM: 138140, Gene2Phenotype
SLC2A1 is in 24 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: SLC2A1; Recommended initial gene rating: Green List (high evidence); Phenotypes: Dystonia 9, 601042 (3) | {Epilepsy, idiopathic generalized, susceptibility to, 12}, 614847 (3) | GLUT1 deficiency syndrome 1, infantile onset, severe, 606777 (3) | GLUT1 deficiency syndrome 2, childhood onset, 612126 (3) | Stomatin-deficient cryohydrocytosis with neurologic defects, 608885 (3); Mode of inheritance: Autosomal dominant | Autosomal dominant | Autosomal recessive, Autosomal dominant | Autosomal dominant | 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

History Filter Activity

20 Feb 2020, Gel status: 3

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene SLC2A1 were updated from to 30847515

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Stomatin-deficient cryohydrocytosis with neurologic defects, 608885; {Epilepsy, idiopathic generalized, susceptibility to, 12}, 614847; Dystonia 9, 601042; GLUT1 deficiency syndrome 2, childhood onset, 612126; GLUT1 deficiency syndrome 1, infantile onset, severe, 606777 for gene: SLC2A1

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Stomatin-deficient cryohydrocytosis with neurologic defects, 608885; {Epilepsy, idiopathic generalized, susceptibility to, 12}, 614847; Dystonia 9, 601042; GLUT1 deficiency syndrome 2, childhood onset, 612126; GLUT1 deficiency syndrome 1, infantile onset, severe, 606777 for gene: SLC2A1

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Stomatin-deficient cryohydrocytosis with neurologic defects, 608885; {Epilepsy, idiopathic generalized, susceptibility to, 12}, 614847; Dystonia 9, 601042; GLUT1 deficiency syndrome 2, childhood onset, 612126; GLUT1 deficiency syndrome 1, infantile onset, severe, 606777 for gene: SLC2A1

19 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Dystonia 9, 601042; GLUT1 deficiency syndrome 2, childhood onset, 612126; {Epilepsy, idiopathic generalized, susceptibility to, 12}, 614847; Stomatin-deficient cryohydrocytosis with neurologic defects, 608885; GLUT1 deficiency syndrome 1, infantile onset, severe, 606777 for gene: SLC2A1

19 Feb 2020, Gel status: 3

Set mode of inheritance, Set Phenotypes

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene SLC2A1 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Added phenotypes Stomatin-deficient cryohydrocytosis with neurologic defects, 608885; {Epilepsy, idiopathic generalized, susceptibility to, 12}, 614847; Dystonia 9, 601042; GLUT1 deficiency syndrome 2, childhood onset, 612126; GLUT1 deficiency syndrome 1, infantile onset, severe, 606777 for gene: SLC2A1

14 Feb 2020, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source Next Generation Children Project was added to SLC2A1.

14 Feb 2020, Gel status: 3

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source Expert Review Green was added to SLC2A1. 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: SLC2A1 was added gene: SLC2A1 was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: SLC2A1 was set to