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Severe Paediatric Disorders

Gene: SCNN1A

Green List (high evidence)

SCNN1A (sodium channel epithelial 1 alpha subunit)
EnsemblGeneIds (GRCh38): ENSG00000111319
EnsemblGeneIds (GRCh37): ENSG00000111319
OMIM: 600228, Gene2Phenotype
SCNN1A is in 10 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: SCNN1A; Recommended initial gene rating: Green List (high evidence); Phenotypes: Bronchiectasis with or without elevated sweat chloride 2, 613021 (3) | ?Liddle syndrome 3, 618126 (3) | Pseudohypoaldosteronism, type I, 264350 (3); Mode of inheritance: Autosomal dominant | Autosomal dominant | 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
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Next Generation Children Project
  • Expert Review Green
  • Expert list
Phenotypes
  • Bronchiectasis with or without elevated sweat chloride 2, 613021
  • ?Liddle syndrome 3, 618126
  • Pseudohypoaldosteronism, type I, 264350
OMIM
600228
Clinvar variants
Variants in SCNN1A
Penetrance
None
Publications
Panels with this gene

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