Congenital hyperinsulinism

Gene: RYR3

Red List (low evidence)

RYR3 (ryanodine receptor 3)
EnsemblGeneIds (GRCh38): ENSG00000198838
EnsemblGeneIds (GRCh37): ENSG00000198838
OMIM: 180903, Gene2Phenotype
RYR3 is in 4 panels

3 reviews

Ellen Thomas (Genomics England Curator)

Comment when marking as ready: Not appropriate for that panel.
Created: 12 Apr 2016, 10:31 a.m.

Ellen McDonagh (Genomics England Curator)

Should be removed from the panel.
Created: 19 Oct 2015, 8:07 a.m.

Sian Ellard (University of Exeter Medical School)

I think this gene has been included in error - I'm not aware of any evidence for a role in hyperinsulinism
Created: 18 Oct 2015, 7:41 a.m.

Details

Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • No OMIM phenotypeEpileptic encephalopathy (Appenzeller (2014) Am J Hum Genet 95, 360)Hyperinsulinism (Proverbio (2013) PLoS One 8, e68740)Schizophrenia (Fromer (2014) Nature 506, 179)Lennox-Gastaut syndrome (Appenzeller (2014) Am J Hum Genet 95, 360)
OMIM
180903
Clinvar variants
Variants in RYR3
Penetrance
Complete
Panels with this gene

History Filter Activity

12 Apr 2016, Gel status: 1

Gene classified by Genomics England curator

Ellen Thomas (Genomics England Curator)

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

28 Apr 2015, Gel status: 1

Added New Source

GEL ()

RYR3 was added to Hyperinsulinismpanel. Sources: Radboud University Medical Center, Nijmegen