SYNCRIP

synaptotagmin binding cytoplasmic RNA interacting protein
OMIM: 616686, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels
Red SYNCRIP in Autism


Version 0.36

review Not set
Sources
  • Expert Review Red
  • SFARI
Red SYNCRIP in DDG2P


Version 3.79
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
    • Expert Review Red
    • DD-Gene2Phenotype
    Phenotypes
    • SYNCRIP-related developmental disorder (monoallelic)
    Amber SYNCRIP in Early onset or syndromic epilepsy

    Level 3: Inherited Epilepsy Syndromes
    Level 2: Neurology and neurodevelopmental disorders
    Version 4.164
    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 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Global developmental delay
    • Intellectual disability
    • Autism
    • Myoclonic atonic seizures
    • Abnormality of nervous system morphology
    Tags
    • gene-checked
    Green SYNCRIP in Intellectual disability - microarray and sequencing

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 5.453
    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, imprinted status unknown
    Sources
    • Expert Review Green
    Phenotypes
    • Global developmental delay
    • Intellectual disability
    • Autism
    • Myoclonic atonic seizures
    • Abnormality of nervous system morphology
    Tags
    • gene-checked