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Genetic epilepsy syndromes

Gene: RYR3

Red List (low evidence)

RYR3 (ryanodine receptor 3)
EnsemblGeneIds (GRCh38): ENSG00000198838
EnsemblGeneIds (GRCh37): ENSG00000198838
OMIM: 180903, Gene2Phenotype
RYR3 is in 5 panels

8 reviews

Rebecca Foulger (Genomics England curator)

I don't know

Review and rating collated by Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust, 2019_02_06) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group, for Clinical Indication R59 'Early onset or syndromic epilepsy'. Review contributors: John Taylor and Helen Lord. Suggested gene rating: Red.
Created: 6 Aug 2019, 8:38 p.m. | Last Modified: 6 Aug 2019, 8:38 p.m.
Panel Version: 1.189

Tracy Lester (Genetics laboratory, Oxford UK)

Red List (low evidence)

Not associated with a phenotype on OMIM. Reviews from panel app: Euro epinomics-res consortium, 2014 - 356 trios with classic EIEE - 2 de novo variants in RYR3 identified, they say in the paper that this provides suggestive evidence for this gene. Peng et al, 2018 - 56 Chinese families with West syndrome (classic form of EIEE) - AR - 2 diff missense variants identified.
Created: 6 Aug 2019, 8:31 p.m. | Last Modified: 6 Aug 2019, 8:31 p.m.
Panel Version: 1.188

Mode of inheritance
Unknown

Phenotypes
Unkown

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Not associated with phenotype in OMIM (lasted edited 01/25/2005) or in Gen2Phen. Four variants reported in four cases, but with little supportive evidence for association with Epileptic encephalopathy.
Created: 8 Nov 2018, 1:40 p.m.
Comment on mode of inheritance: MOI based on report in PMID 29667327
Created: 8 Nov 2018, 12:43 p.m.

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).
Created: 12 Nov 2015, 4:21 p.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Wessex and West Midlands GLH
  • NHS GMS
  • Expert Review Red
  • Expert Review
Phenotypes
  • Epileptic encephalopathy
OMIM
180903
Clinvar variants
Variants in RYR3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

6 Aug 2019, Gel status: 1

Added New Source

Rebecca Foulger (Genomics England curator)

Source Wessex and West Midlands GLH was added to RYR3.

6 Aug 2019, Gel status: 1

Added New Source

Rebecca Foulger (Genomics England curator)

Source NHS GMS was added to RYR3.

11 Dec 2018, Gel status: 1

Panel promoted to version 1.0

Sarah Leigh (Genomics England Curator)

Ellen McDonagh: Gene added in expert review of

8 Nov 2018, Gel status: 1

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: ryr3 has been classified as Red List (Low Evidence).

8 Nov 2018, Gel status: 1

Set mode of inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for gene: RYR3 was changed from to BIALLELIC, autosomal or pseudoautosomal

8 Nov 2018, Gel status: 1

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: RYR3 were changed from to Epileptic encephalopathy

8 Nov 2018, Gel status: 1

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: RYR3 were set to 25262651

8 Nov 2018, Gel status: 1

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: RYR3 were set to EuroEPINOMICS-RES Consortium (2014) AJHG 95:1-11

4 Apr 2018, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

RYR3 was added to Genetic Epilepsy Syndromes panel. Sources: Expert Review,Expert Review Red

4 Apr 2018, Gel status: 1

Created

Sarah Leigh (Genomics England Curator)

RYR3 was created by Sarah Leigh