SYNCRIP

synaptotagmin binding cytoplasmic RNA interacting protein
OMIM: 616686, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels
Red SYNCRIP in DDG2P


Version 6.424
Latest signed off version: v6.0 (30 Apr 2025)

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 2: Neurology
    Version 8.125
    Latest signed off version: v8.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders
  • 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


    Level 2: Developmental disorders
    Version 9.285
    Latest signed off version: v9.0 (30 Apr 2025)

    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