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  1. Genes and Genomic Entities
  2. GOSR2

GOSR2

golgi SNAP receptor complex member 2
OMIM: 604027, Gene2Phenotype

10 panels

Panel Reviews Mode of inheritance Details
10 panels

Green GOSR2 in Mendeliome


Version 1.3512

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Epilepsy, progressive myoclonic 6 , MIM#614018
  • Muscular dystrophy, congenital, with or without seizures, MIM# 620166

Green GOSR2 in Muscular dystrophy and myopathy_Paediatric


Level 2: Neurology and neurodevelopmental disorders
Version 1.108

Component of the following Super Panels:

  • Myopathy Superpanel
  • Neuromuscular Superpanel

    		•  3 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Muscular dystrophy, congenital, with or without seizures, MIM# 620166

    Green GOSR2 in Genetic Epilepsy


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.267

    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
    • Victorian Clinical Genetics Services
    Phenotypes
    • Epilepsy, progressive myoclonic 6 , MIM#614018

    Green GOSR2 in Regression


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.594

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

    Red GOSR2 in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.410

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Genetic Health Queensland
    Phenotypes
    • Epilepsy, progressive myoclonic 6, MIM#614018

    Green GOSR2 in Ataxia - paediatric


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.60

    Component of the following Super Panels:

  • Ataxia_Superpanel
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Royal Melbourne Hospital
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Epilepsy, progressive myoclonic 6, 614018
    • Progressive myoclonic epilepsy 6, 614018

    Green GOSR2 in Progressive Myoclonic Epilepsy


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.22

    		0 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Royal Melbourne Hospital
    • Expert Review Green
    Phenotypes
    • Epilepsy, progressive myoclonic 6, 614018

    Green GOSR2 in Mackenzie's Mission_Reproductive Carrier Screening


    Level 2: Screening
    Version 0.110

    		0 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Epilepsy, progressive myoclonic 6, 614018 (3)

    Red GOSR2 in Deafness_Isolated


    Level 2: Hearing and ear disorders
    Version 1.82

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Expert Review
    Phenotypes
    • hearing loss, autosomal recessive, MONDO:0019588, GOSR2-related

    Green GOSR2 in Prepair 1000+


    Level 2: Screening
    Version 2.14

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Epilepsy, progressive myoclonic 6 MIM#614018
    • Muscular dystrophy, congenital, with or without seizures MIM#620166