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Severe Paediatric Disorders

Gene: SLC6A5

Green List (high evidence)

SLC6A5 (solute carrier family 6 member 5)
EnsemblGeneIds (GRCh38): ENSG00000165970
EnsemblGeneIds (GRCh37): ENSG00000165970
OMIM: 604159, Gene2Phenotype
SLC6A5 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: SLC6A5; Recommended initial gene rating: Green List (high evidence); Phenotypes: Hyperekplexia 3, 614618 (3); Mode of inheritance: Autosomal recessive, Autosomal dominant
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
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Next Generation Children Project
  • Expert Review Green
  • Expert list
Phenotypes
  • Hyperekplexia 3, 614618
OMIM
604159
Clinvar variants
Variants in SLC6A5
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 SLC6A5 were updated from to 30847515

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Hyperekplexia 3, 614618 for gene: SLC6A5

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Hyperekplexia 3, 614618 for gene: SLC6A5

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Hyperekplexia 3, 614618 for gene: SLC6A5

19 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Hyperekplexia 3, 614618 for gene: SLC6A5

19 Feb 2020, Gel status: 3

Set mode of inheritance, Set Phenotypes

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene SLC6A5 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Added phenotypes Hyperekplexia 3, 614618 for gene: SLC6A5

14 Feb 2020, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source Next Generation Children Project was added to SLC6A5.

14 Feb 2020, Gel status: 3

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source Expert Review Green was added to SLC6A5. 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: SLC6A5 was added gene: SLC6A5 was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: SLC6A5 was set to