PanelApp
  1. Genes and Genomic Entities
  2. SYNE1

SYNE1

spectrin repeat containing nuclear envelope protein 1
OMIM: 608441, ClinGen, DECIPHER

10 panels

Panel Reviews Mode of inheritance Details
10 panels

Green SYNE1 in Arthrogryposis


Level 2: Neurology and neurodevelopmental disorders
Version 1.1

Component of the following Super Panels:

  • Neuromuscular Superpanel

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Distal arthrogryposis

    Red SYNE1 in Autism


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.233

    		1 review Unknown
    Sources
    • Expert Review Red
    • Victorian Clinical Genetics Services

    Amber SYNE1 in Cerebral Palsy


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.405

    		3 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Spinocerebellar ataxia, autosomal recessive 8 MIM#610743

    Green SYNE1 in Mendeliome


    Version 1.3802

    		2 reviews BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    • Victorian Clinical Genetics Services
    Phenotypes
    • Arthrogryposis multiplex congenita, myogenic type, MIM# 618484
    • Emery-Dreifuss muscular dystrophy 4, autosomal dominant, MIM# 612998
    • Spinocerebellar ataxia, autosomal recessive 8, MIM# 610743

    Green SYNE1 in Muscular dystrophy and myopathy_Paediatric


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.112

    Component of the following Super Panels:

  • Myopathy Superpanel
  • Neuromuscular Superpanel

    		•  3 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert Review
    • Victorian Clinical Genetics Services
    Phenotypes
    • Emery-Dreifuss muscular dystrophy 4, autosomal dominant 612998

    Red SYNE1 in Genetic Epilepsy


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.309

    Component of the following Super Panels:

  • Progressive Neurological Conditions

    		•  1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Red
    • Literature
    Phenotypes
    • Neurodevelopmental disorder, MONDO:0700092

    Green SYNE1 in Regression


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.601

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

    Green SYNE1 in Ataxia


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.162

    Component of the following Super Panels:

  • Neuromuscular Superpanel
  • Progressive Neurological Conditions

    		•  2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Spinocerebellar ataxia, autosomal recessive 8, MIM# 610743

    Green SYNE1 in Limb-Girdle Muscular Dystrophy and Distal Myopathy


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.63

    Component of the following Super Panels:

  • Myopathy Superpanel
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions

    		•  3 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review
    • Expert Review Green
    • Expert Review Green
    • Royal Melbourne Hospital
    • Victorian Clinical Genetics Services
    • Victorian Clinical Genetics Services
    Phenotypes
    • Emery-Dreifuss muscular dystrophy 4, autosomal dominant 612998

    Green SYNE1 in Fetal anomalies


    Version 1.482

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    • Literature
    Phenotypes
    • Arthrogryposis multiplex congenita 3, myogenic type, OMIM:618484
    • Arthrogryposis multiplex congenita 3, myogenic type, MONDO:0032778