SYNE1

spectrin repeat containing nuclear envelope protein 1
OMIM: 608441, Gene2Phenotype

15 panels

Panel Reviews Mode of inheritance Details
15 panels

Green SYNE1 in Neuromuscular disorders


Version 5.164
Latest signed off version: v5.43 (4 Mar 2020)

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Emery-Dreifuss muscular dystrophy 4, autosomal dominant, 612998
  • Spinocerebellar ataxia, autosomal recessive 8, 610743

Green SYNE1 in Ataxia and cerebellar anomalies - narrow panel


Version 2.170
Latest signed off version: v2.23 (8 Oct 2020)

Component of the following Super Panels:

  • Hereditary ataxia and cerebellar anomalies - childhood onset
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    Phenotypes
    • Spinocerebellar ataxia, autosomal recessive 8, OMIM:610743
    • Autosomal recessive ataxia, Beauce type, MONDO:0012549

    Green SYNE1 in Hereditary ataxia

    Level 3: Motor Disorders of the CNS
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.221

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • UKGTN
    • Radboud University Medical Center, Nijmegen
    • Illumina TruGenome Clinical Sequencing Services
    Phenotypes
    • Spinocerebellar ataxia, autosomal recessive 8, OMIM:610743
    • Autosomal recessive ataxia, Beauce type, MONDO:0012549

    Red SYNE1 in Dilated Cardiomyopathy and conduction defects

    Level 3: Cardiomyopathy
    Level 2: Cardiovascular disorders
    Version 1.68

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • South West GLH
    • Expert list

    Red SYNE1 in Autism


    Version 0.22

    review Not set
    Sources
    • Expert Review Red
    • SFARI

    Green SYNE1 in Congenital muscular dystrophy

    Level 3: Neuromuscular disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 2.8
    Latest signed off version: v2.2 (2 Mar 2020)

    Component of the following Super Panels:

  • Hypotonic infant
  • Neuromuscular disorders
  • review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    • Illumina TruGenome Clinical Sequencing Services
    Phenotypes
    • Emery-Dreifuss muscular dystrophy 4, autosomal dominant 612998
    • complex phenotypic spectrum ranging from Emery-Dreifuss muscular dystrophy to ataxia (SCA8)

    Amber SYNE1 in Arthrogryposis

    Level 3: Neuromuscular disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.98
    Latest signed off version: v3.2 (13 Feb 2020)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Illumina TruGenome Clinical Sequencing Services
    • Radboud University Medical Center, Nijmegen
    • Expert list
    Phenotypes
    • Arthrogryposis multiplex congenita 3, myogenic type, OMIM:618484
    • Arthrogryposis multiplex congenita 3, myogenic type, MONDO:0032778
    Tags
    • Q2_21_rating

    Green SYNE1 in Limb girdle muscular dystrophy

    Level 3: Neuromuscular disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 2.18
    Latest signed off version: v2.4 (2 Mar 2020)

    Component of the following Super Panels:

  • Hypotonic infant
  • Neuromuscular disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    • Emory Genetics Laboratory
    • Illumina TruGenome Clinical Sequencing Services
    Phenotypes
    • Emery-Dreifuss muscular dystrophy 4, autosomal dominant 612998

    Red SYNE1 in Neurodegenerative disorders - adult onset


    Version 2.174
    Latest signed off version: v2.31 (8 Oct 2020)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Wessex and West Midlands GLH
    • Yorkshire and North East GLH
    • NHS GMS
    • London North GLH
    Phenotypes
    • Cerebellar Ataxia
    • Spinocerebellar ataxia, autosomal recessive 8

    Amber SYNE1 in Fetal anomalies


    Version 1.649
    Latest signed off version: v1.92 (21 Aug 2020)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • PAGE DD-Gene2Phenotype
    Phenotypes
    • Arthrogryposis multiplex congenita 3, myogenic type, OMIM:618484
    • Arthrogryposis multiplex congenita 3, myogenic type, MONDO:0032778
    Tags
    • Q2_21_rating

    Green SYNE1 in DDG2P


    Version 2.27
    Latest signed off version: v2.2 (13 Feb 2020)

    Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • DD-Gene2Phenotype
    Phenotypes
    • EMERY-DREIFUSS MUSCULAR DYSTROPHY 4, AUTOSOMAL RECESSIVE 612998
    • SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 8 610743

    Red SYNE1 in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.1074
    Latest signed off version: v3.2 (13 Feb 2020)

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Red
    Phenotypes
    • Emery-Dreifuss muscular dystrophy 4, autosomal dominant, 612998
    • Spinocerebellar ataxia, autosomal recessive 8, 610743
    • intellectual disability

    Green SYNE1 in Hereditary ataxia - adult onset


    Version 2.47
    Latest signed off version: v2.13 (6 Oct 2020)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • London North GLH
    • NHS GMS
    • Wessex and West Midlands GLH
    • Expert Review Green
    • Hereditary ataxia v1.148
    Phenotypes
    • Spinocerebellar ataxia, autosomal recessive 8, OMIM:610743
    • Autosomal recessive ataxia, Beauce type, MONDO:0012549

    Red SYNE1 in Childhood onset dystonia or chorea or related movement disorder


    Version 1.102
    Latest signed off version: v1.58 (6 Oct 2020)

    review Not set
    Sources
    • Expert Review Red
    • London North GLH

    Green SYNE1 in Severe Paediatric Disorders


    Version 1.77

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Spinocerebellar ataxia, autosomal recessive 8, 610743
    • Arthrogryposis multiplex congenita, myogenic type, 618484
    • Emery-Dreifuss muscular dystrophy 4, autosomal dominant, 612998