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This Panel is marked as Internal

Newborns main panel
Gene: SCNN1B

SCNN1B (sodium channel epithelial 1 beta subunit)
EnsemblGeneIds (GRCh38): ENSG00000168447
EnsemblGeneIds (GRCh37): ENSG00000168447
OMIM: 600760, Gene2Phenotype
SCNN1B is in 10 panels

1 review

Mafalda Gomes (Genomics England Curator)

The mechanism of pathogenicity is loss-of-function (LOF).
Created: 1 Jun 2023, 2:40 p.m. | Last Modified: 1 Jun 2023, 2:40 p.m.

Panel Version: 0.137

https://pubmed.ncbi.nlm.nih.gov/32840096/
Created: 1 Jun 2023, 12:22 p.m. | Last Modified: 1 Jun 2023, 12:22 p.m.

Panel Version: 0.135

Created: 1 Jun 2023, 12:22 p.m.
Last Modified: 1 Jun 2023, 12:22 p.m.
Panel version: 0.137

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green

Phenotypes

SCNN1B related pseudohypoaldosteronism Type 1A

OMIM

Clinvar variants

Variants in SCNN1B

Penetrance

None

Panels with this gene

History Filter Activity

16 Nov 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Phenotypes for gene: SCNN1B were changed from Pseudohypoaldosteronism Type 1A to SCNN1B related pseudohypoaldosteronism Type 1A

14 Sep 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Pseudohypoaldosteronism Type 1A for gene: SCNN1B

5 Jul 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Pseudohypoaldosteronism Type 1A for gene: SCNN1B

31 May 2023, Gel status: 3

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Green was added to SCNN1B. Added phenotypes Pseudohypoaldosteronism Type 1A for gene: SCNN1B Rating Changed from No List (delete) to Green List (high evidence)

5 May 2023, Gel status: 0

Added New Source, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Removed was added to SCNN1B. Rating Changed from Green List (high evidence) to No List (delete)

9 Mar 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Pseudohypoaldosteronism Type 1A for gene: SCNN1B

9 Mar 2023, Gel status: 3

Created, Added New Source, Set mode of inheritance

Mafalda Gomes (Genomics England Curator)

gene: SCNN1B was added gene: SCNN1B was added to Newborns main panel. Sources: Expert Review Green Mode of inheritance for gene: SCNN1B was set to BIALLELIC, autosomal or pseudoautosomal