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Epileptic encephalopathy

Gene: RYR3

Red List (low evidence)

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

5 reviews

Amy McTague (UCL Institute of Child Health)

Red List (low evidence)

Publications

  • EuroEPINOMICS-RES Consortium (2014) AJHG 95:1-11

Natalie Trump (NHS - Great Ormond Street Hospital)

Red List (low evidence)

Publications

  • EuroEPINOMICS-RES Consortium (2014) AJHG 95:1-11

Manju Kurian (UCL-Institute of Child Health)

Red List (low evidence)

Publications

  • EuroEPINOMICS-RES Consortium (2014) AJHG 95:1-11

Richard Scott (North Thames GMC/UCL)

Red List (low evidence)

Publications

  • EuroEPINOMICS-RES Consortium (2014) AJHG 95:1-11

Ellen McDonagh (Genomics England Curator)

Gene added in expert review of the panel by Richard Scott (Genomics England), Manju Kurian (UCL-Institute of Child Health), Natalie Trump (NHS - Great Ormond Street Hospital), Amy McTague (UCL Institute of Child Health).
12 Nov 2015, 4:21 p.m.

Details

Sources
  • Expert Review Red
OMIM
180903
Clinvar variants
Variants in RYR3
Penetrance
Complete
Publications
  • EuroEPINOMICS-RES Consortium (2014) AJHG 95:1-11
Panels with this gene

History Filter Activity

13 Nov 2015, Gel status: 1

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

RYR3 was added to Epileptic encephalopathypanel. Source: Expert Review Red

13 Nov 2015, Gel status: 0

gel status update

GEL ()

The Gel status was updated for this whole panel

12 Nov 2015, Gel status: 0

Approved Gene

Ellen McDonagh (Genomics England Curator)

This proposed gene was validated and added to this panel

12 Nov 2015, Gel status: 0

Approved Gene

Ellen McDonagh (Genomics England Curator)

This proposed gene was validated and added to this panel

12 Nov 2015, Gel status: 0

Added New Source

Richard Scott (North Thames GMC/UCL)

RYR3 was added to Epileptic encephalopathypanel. Sources: Expert Review

12 Nov 2015, Gel status: 0

Created

Richard Scott (North Thames GMC/UCL)

RYR3 was created by Reviewer_03