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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 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: 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

History Filter Activity

20 Feb 2020, Gel status: 3

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene SCNN1A were updated from to 30847515

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Pseudohypoaldosteronism, type I, 264350; ?Liddle syndrome 3, 618126; Bronchiectasis with or without elevated sweat chloride 2, 613021 for gene: SCNN1A

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Pseudohypoaldosteronism, type I, 264350; ?Liddle syndrome 3, 618126; Bronchiectasis with or without elevated sweat chloride 2, 613021 for gene: SCNN1A

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Pseudohypoaldosteronism, type I, 264350; ?Liddle syndrome 3, 618126; Bronchiectasis with or without elevated sweat chloride 2, 613021 for gene: SCNN1A

19 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Pseudohypoaldosteronism, type I, 264350; ?Liddle syndrome 3, 618126; Bronchiectasis with or without elevated sweat chloride 2, 613021 for gene: SCNN1A

19 Feb 2020, Gel status: 3

Set mode of inheritance, Set Phenotypes

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene SCNN1A was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Added phenotypes Pseudohypoaldosteronism, type I, 264350; ?Liddle syndrome 3, 618126; Bronchiectasis with or without elevated sweat chloride 2, 613021 for gene: SCNN1A

14 Feb 2020, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source Next Generation Children Project was added to SCNN1A.

14 Feb 2020, Gel status: 3

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source Expert Review Green was added to SCNN1A. 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: SCNN1A was added gene: SCNN1A was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: SCNN1A was set to