PanelApp
  1. Genes and Genomic Entities
  2. SYNJ1

SYNJ1

synaptojanin 1
OMIM: 604297, ClinGen, DECIPHER

6 panels

Panel Reviews Mode of inheritance Details
6 panels

Green SYNJ1 in Early-onset Parkinson disease


Level 2: Neurology and neurodevelopmental disorders
Version 2.50

Component of the following Super Panels:

  • Movement Disorders Superpanel
  • Neurodegenerative disease - adult onset
  • Progressive Neurological Conditions

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Melbourne Genomics Health Alliance Complex Neurology Flagship
    • Victorian Clinical Genetics Services
    Phenotypes
    • Parkinson disease 20, early-onset, MIM# 615530

    Green SYNJ1 in Mendeliome


    Version 1.4541

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Developmental and epileptic encephalopathy 53, MIM# 617389
    • Parkinson disease 20, early-onset, MIM# 615530

    Green SYNJ1 in Genetic Epilepsy


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.384

    Component of the following Super Panels:

  • Progressive Neurological Conditions

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    • Australian Genomics Health Alliance Epilepsy Flagship
    Phenotypes
    • Developmental and epileptic encephalopathy 53, MIM# 617389

    Green SYNJ1 in Regression


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.607

    		0 reviews Unknown
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green

    Green SYNJ1 in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.699

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genetic Health Queensland
    Phenotypes
    • Developmental and epileptic encephalopathy 53, MIM# 617389

    Green SYNJ1 in Dystonia and Chorea


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.340

    Component of the following Super Panels:

  • Movement Disorders Superpanel
  • Progressive Neurological Conditions

    		•  0 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Royal Melbourne Hospital
    Phenotypes
    • juvenile Parkinsonism
    • Parkinson disease 20, early-onset