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Severe Paediatric Disorders

Gene: SLC5A1

Green List (high evidence)

SLC5A1 (solute carrier family 5 member 1)
EnsemblGeneIds (GRCh38): ENSG00000100170
EnsemblGeneIds (GRCh37): ENSG00000100170
OMIM: 182380, Gene2Phenotype
SLC5A1 is in 4 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: SLC5A1; Recommended initial gene rating: Green List (high evidence); Phenotypes: Glucose/galactose malabsorption, 606824 (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
  • Glucose/galactose malabsorption, 606824
OMIM
182380
Clinvar variants
Variants in SLC5A1
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 SLC5A1 were updated from to 30847515

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Glucose/galactose malabsorption, 606824 for gene: SLC5A1

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Glucose/galactose malabsorption, 606824 for gene: SLC5A1

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Glucose/galactose malabsorption, 606824 for gene: SLC5A1

19 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Glucose/galactose malabsorption, 606824 for gene: SLC5A1

19 Feb 2020, Gel status: 3

Set mode of inheritance, Set Phenotypes

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene SLC5A1 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Glucose/galactose malabsorption, 606824 for gene: SLC5A1

14 Feb 2020, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source Next Generation Children Project was added to SLC5A1.

14 Feb 2020, Gel status: 3

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source Expert Review Green was added to SLC5A1. 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: SLC5A1 was added gene: SLC5A1 was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: SLC5A1 was set to