SYNE2

spectrin repeat containing nuclear envelope protein 2
OMIM: 608442, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Red SYNE2 in Neuromuscular disorders


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

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
Phenotypes
  • Emery-Dreifuss Muscular Dystrophy
  • Emery-Dreifuss muscular dystrophy 5, autosomal dominant
  • Emery-Dreifuss muscular dystrophy 5, autosomal dominant, 612999

Red SYNE2 in Dilated Cardiomyopathy and conduction defects

Level 3: Cardiomyopathy
Level 2: Cardiovascular disorders
Version 1.68

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • South West GLH
  • Expert list
Phenotypes
  • syndromic DCM

Red SYNE2 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 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Red
    • Radboud University Medical Center, Nijmegen
    • Illumina TruGenome Clinical Sequencing Services
    Phenotypes
    • Emery-Dreifuss Muscular Dystrophy
    • Emery-Dreifuss muscular dystrophy 5, autosomal dominant, 612999

    Red SYNE2 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 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Red
    • Illumina TruGenome Clinical Sequencing Services
    • Radboud University Medical Center, Nijmegen
    • Expert list
    Phenotypes
    • Emery-Dreifuss Muscular Dystrophy
    • Emery-Dreifuss muscular dystrophy 5, autosomal dominant, 612999

    Green SYNE2 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 BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Yorkshire and North East GLH
    • NHS GMS
    • South West GLH
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Emery-Dreifuss muscular dystrophy 5, autosomal dominant 612999
    • congenital muscular dystrophy