Gastrointestinal neuromuscular disordersGene: SCN11A
Comment on list classification: At least two reports of gastrointestinal involvement 27503742
Created: 25 Oct 2016, 4:04 p.m.
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.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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.
This gene has been classified as Green List (High Evidence).
Publications for SCN11A were set to 27503742 25118027
This gene has been classified as Amber List (Moderate Evidence).
Publications for SCN11A were set to 27503742 - case where gastrointestinal disturbances are reported
This gene has been classified as Red List (Low Evidence).
SCN11A was added to Neonatal and familial gastrointestinal neuromuscular disorderspanel. Sources: Radboud University Medical Center, Nijmegen
SCN11A was created by sleigh