SYNCRIP

synaptotagmin binding cytoplasmic RNA interacting protein
OMIM: 616686, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Red SYNCRIP in Periventricular Grey Matter Heterotopia


Level 2: Neurology and neurodevelopmental disorders
Version 1.2

Component of the following Super Panels:

  • Malformations of cortical development_Superpanel
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Red
    • Literature
    Phenotypes
    • SYNCRIP-related neurodevelopmental disorder

    Green SYNCRIP in Mendeliome


    Version 1.1902

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Global developmental delay
    • Intellectual disability
    • Autism
    • Myoclonic atonic seizures
    • Abnormality of nervous system morphology

    Amber SYNCRIP in Genetic Epilepsy


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.33

    Component of the following Super Panels:

  • Progressive Neurological Conditions
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • Literature
    • Expert Review Amber
    • Literature
    Phenotypes
    • Neurodevelopmental disorder, MONDO:0700092, SYNCRIP-related
    • Global developmental delay
    • Intellectual disability
    • Autism
    • Myoclonic atonic seizures
    • Abnormality of nervous system morphology

    Green SYNCRIP in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.6063

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Global developmental delay
    • Intellectual disability
    • Autism
    • Myoclonic atonic seizures
    • Abnormality of nervous system morphology

    Red SYNCRIP in Fetal anomalies


    Version 1.255

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Red
    • Expert Review
    Phenotypes
    • SYNCRIP-related neurodevelopmental disorder