Gastrointestinal neuromuscular disorders

Gene: SMO

Red List (low evidence)

SMO (smoothened, frizzled class receptor)
EnsemblGeneIds (GRCh38): ENSG00000128602
EnsemblGeneIds (GRCh37): ENSG00000128602
OMIM: 601500, Gene2Phenotype
SMO is in 12 panels

2 reviews

Ellen McDonagh (Genomics England Curator)

Red List (low evidence)

Comment on list classification: Pseudoobstruction is reported to be present in some patients with Curry-Jones syndrome. The c.1234C-T, NM_005631.4 variant was reported in affected tissue from 8 patients with Curry-Jones syndrome, displaying somatic mosaicism (PMID: 27236920). Due to expert review, and that not all patients display pseudo-obstructions, and only one mosaic variant has been reported, this gene should remain red for now.
Created: 19 Oct 2016, 1:08 p.m.

Neil shah (GOSH)

Red List (low evidence)

Mode of inheritance
Other - please specify in evaluation comments

Publications

Details

Mode of Inheritance
Other - please specify in evaluation comments
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Curry-Jones syndrome, somatic mosaic 601707
Tags
mosaicism
OMIM
601500
Clinvar variants
Variants in SMO
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

26 Oct 2016, Gel status: 1

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.

19 Oct 2016, Gel status: 1

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for SMO were set to 27236920

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: 0

Added New Source

Sarah Leigh (Genomics England Curator)

SMO was added to Neonatal and familial gastrointestinal neuromuscular disorderspanel. Sources: Literature

31 Aug 2016, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

SMO was created by sleigh