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Severe Paediatric Disorders

Gene: SLC2A10

Green List (high evidence)

SLC2A10 (solute carrier family 2 member 10)
EnsemblGeneIds (GRCh38): ENSG00000197496
EnsemblGeneIds (GRCh37): ENSG00000197496
OMIM: 606145, Gene2Phenotype
SLC2A10 is in 9 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: SLC2A10; Recommended initial gene rating: Green List (high evidence); Phenotypes: Arterial tortuosity syndrome, 208050 (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
  • Arterial tortuosity syndrome, 208050
OMIM
606145
Clinvar variants
Variants in SLC2A10
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 SLC2A10 were updated from to 30847515

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Arterial tortuosity syndrome, 208050 for gene: SLC2A10

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Arterial tortuosity syndrome, 208050 for gene: SLC2A10

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Arterial tortuosity syndrome, 208050 for gene: SLC2A10

19 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Arterial tortuosity syndrome, 208050 for gene: SLC2A10

19 Feb 2020, Gel status: 3

Set mode of inheritance, Set Phenotypes

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene SLC2A10 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Arterial tortuosity syndrome, 208050 for gene: SLC2A10

14 Feb 2020, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source Next Generation Children Project was added to SLC2A10.

14 Feb 2020, Gel status: 3

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source Expert Review Green was added to SLC2A10. 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: SLC2A10 was added gene: SLC2A10 was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: SLC2A10 was set to