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  3. SCN11A
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Gastrointestinal neuromuscular disorders

Gene: SCN11A

Green List (high evidence)
SCN11A (sodium voltage-gated channel alpha subunit 11)
EnsemblGeneIds (GRCh38): ENSG00000168356
EnsemblGeneIds (GRCh37): ENSG00000168356
OMIM: 604385, Gene2Phenotype
SCN11A is in 9 panels

3 reviews

Richard Scott (Genomics England Curator)

Comment on list classification: At least two reports of gastrointestinal involvement 27503742
25118027
Created: 25 Oct 2016, 4:04 p.m.
Created: 25 Oct 2016, 4:04 p.m.

Panel version: 0.83

Ellen McDonagh (Genomics England Curator)

I don't know

Comment on list classification: Neuropathy, hereditary sensory and autonomic, type VII includes Gastrointestinal dysfunction, Diarrhea and Constipation - one report in OMIM.
Created: 19 Oct 2016, 12:25 p.m.
Created: 19 Oct 2016, 12:53 p.m.

Panel version: 0.67

Neil shah (GOSH)

I don't know

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Created: 12 Oct 2016, 7:10 a.m.

Panel version: 0.25

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Neuropathy, hereditary sensory and autonomic, type VII 615548
OMIM
604385
Clinvar variants
Variants in SCN11A
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

26 Oct 2016, Gel status: 4

panel promoted to version 1

Ellen McDonagh (Genomics England Curator)

26th October 2016: panel revised after expert review and further curation of the analysis, with then internal clinical review. Ready for promotion to version 1.

25 Oct 2016, Gel status: 4

Gene classified by Genomics England curator

Richard Scott (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

25 Oct 2016, Gel status: 2

Set publications

Richard Scott (Genomics England Curator)

Publications for SCN11A were set to 27503742 25118027

19 Oct 2016, Gel status: 2

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

19 Oct 2016, Gel status: 1

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for SCN11A were set to 27503742 - case where gastrointestinal disturbances are reported

19 Oct 2016, Gel status: 1

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

31 Aug 2016, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

SCN11A was added to Neonatal and familial gastrointestinal neuromuscular disorderspanel. Sources: Radboud University Medical Center, Nijmegen

31 Aug 2016, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

SCN11A was created by sleigh