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Skeletal dysplasia

Gene: SCNN1A

Red List (low evidence)

SCNN1A (sodium channel epithelial 1 alpha subunit)
EnsemblGeneIds (GRCh38): ENSG00000111319
EnsemblGeneIds (GRCh37): ENSG00000111319
OMIM: 600228, Gene2Phenotype
SCNN1A is in 9 panels

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History Filter Activity

9 Aug 2016, Gel status: 1

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

Promoted to version 1 9th August 2016

18 May 2016, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

SCNN1A was created by sleigh

18 May 2016, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

SCNN1A was added to Unexplained skeletal dysplasiapanel. Sources: Emory Genetics Laboratory