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  3. SCN10A
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Paediatric pseudo-obstruction syndrome

Gene: SCN10A

Red List (low evidence)
SCN10A (sodium voltage-gated channel alpha subunit 10)
EnsemblGeneIds (GRCh38): ENSG00000185313
EnsemblGeneIds (GRCh37): ENSG00000185313
OMIM: 604427, Gene2Phenotype
SCN10A is in 7 panels

2 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

Red List (low evidence)

The rating of this gene has been updated to Red and the mode of inheritance set to 'MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown' following NHS Genomic Medicine Service approval.
Created: 1 Feb 2023, 7:44 a.m. | Last Modified: 1 Feb 2023, 7:44 a.m.
Panel Version: 0.216
Comment on list classification: The phenotype reported in OMIM (#615551) is not relevant to this panel and there are no phenotypes reported in G2P. PMID:30663199 does not report any cases associated with SCN10A and a quick literature search did not find any literature making an association. So, this gene should be rated as RED.
Created: 30 Dec 2022, 7:14 p.m. | Last Modified: 30 Dec 2022, 7:14 p.m.
Panel Version: 0.128
Created: 30 Dec 2022, 7:14 p.m.
Last Modified: 30 Dec 2022, 7:14 p.m.
Panel version: 0.216

Eleanor Williams (Genomics England Curator)

Review submitted on behalf of Dr. Anna Rybak and Dr. Osvaldo Borreli, Great Ormond Street Hospital for Children NHS Foundation Trust. Gene group: Genes involved in Hirschsprung disease (HSCR) in humans and models of megacolon. Protein function: sodium voltage-gated channel alpha subunit 10.
Created: 20 Dec 2022, 3:32 p.m. | Last Modified: 20 Dec 2022, 3:32 p.m.
Panel Version: 0.2

Mode of inheritance
Unknown

Phenotypes
Colon sensory neurons activation

Publications

Created: 20 Dec 2022, 3:32 p.m.
Last Modified: 20 Dec 2022, 3:32 p.m.
Panel version: 0.2

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
Phenotypes
  • Colon sensory neurons activation
OMIM
604427
Clinvar variants
Variants in SCN10A
Penetrance
None
Panels with this gene

History Filter Activity

4 Jan 2023, Gel status: 1

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: SCN10A were changed from to Colon sensory neurons activation

4 Jan 2023, Gel status: 1

Set mode of inheritance

Arina Puzriakova (Genomics England Curator)

Mode of inheritance for gene: SCN10A was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

20 Dec 2022, Gel status: 1

Created, Added New Source, Set mode of inheritance

Eleanor Williams (Genomics England Curator)

gene: SCN10A was added gene: SCN10A was added to Paediatric pseudo-obstruction syndrome. Sources: Expert list Mode of inheritance for gene: SCN10A was set to