1. Genes and Genomic Entities
  2. RYR3

RYR3

ryanodine receptor 3
OMIM: 180903, Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels
Red RYR3 in Genomic imprinting


Version 0.149

review MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Sources
  • Literature
Red RYR3 in Congenital hyperinsulinism

Level 3: Disorders of unusual phenotypes
Level 2: Endocrine disorders
Version 3.4
Latest signed off version: v3.0 (22 Mar 2023)

review Not set
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)
Green RYR3 in Congenital myopathy

Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 4.37
Latest signed off version: v4.0 (22 Mar 2023)

Component of the following Super Panels:

  • Hypotonic infant
  • Other rare neuromuscular disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    • Expert Review
    Phenotypes
    • Congenital myopathy 20, OMIM:620310
    • Nemaline myopathy, MONDO:0018958
    Red RYR3 in DDG2P


    Version 3.87
    Latest signed off version: v3.1 (22 Mar 2023)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • DD-Gene2Phenotype
    • Expert Review Red
    Phenotypes
    • EPILEPTIC ENCEPHALOPATHY
    Red RYR3 in Early onset or syndromic epilepsy

    Level 3: Inherited Epilepsy Syndromes
    Level 2: Neurology and neurodevelopmental disorders
    Version 4.193
    Latest signed off version: v4.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Unexplained death in infancy and sudden unexplained death in childhood

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Wessex and West Midlands GLH
    • NHS GMS
    • Expert Review Red
    • Expert Review
    Phenotypes
    • Epileptic encephalopathy
    Red RYR3 in Intellectual disability - microarray and sequencing

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 5.532
    Latest signed off version: v5.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Red
    Phenotypes
    • EPILEPTIC ENCEPHALOPATHY