1. Genes and Genomic Entities
  2. SPEG

SPEG

SPEG complex locus
OMIM: 615950, Gene2Phenotype

9 panels

Panel Reviews Mode of inheritance Details
9 panels
Green SPEG in Other rare neuromuscular disorders


Version 19.202
Latest signed off version: v19.1 (22 Mar 2023)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Centronuclear myopathy 5 615959
Green SPEG in Dilated Cardiomyopathy and conduction defects

Level 3: Cardiomyopathy
Level 2: Cardiovascular disorders
Version 1.85

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Dilated cardiomyopathy, MONDO:0005021
  • Centronuclear myopathy 5, OMIM:615959
Green SPEG in Congenital myopathy

Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 4.37
Latest signed off version: v4.0 (22 Mar 2023)

Component of the following Super Panels:

  • Hypotonic infant
  • Other rare neuromuscular disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • London South GLH
    • Expert Review Green
    • Literature
    Phenotypes
    • Centronuclear myopathy 5, OMIM:615959
    Amber SPEG in Dilated and arrhythmogenic cardiomyopathy

    Level 3: Cardiomyopathy
    Level 2: Cardiovascular disorders
    Version 2.22
    Latest signed off version: v2.8 (22 Mar 2023)

    Component of the following Super Panels:

  • Sudden unexplained death or survivors of a cardiac event

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Dilated cardiomyopathy, MONDO:0005021
    • Centronuclear myopathy 5, OMIM:615959
    Green SPEG in Fetal anomalies


    Version 3.164
    Latest signed off version: v3.0 (22 Mar 2023)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • PAGE DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • CENTRONUCLEAR MYOPATHY WITH DILATED CARDIOMYOPATHY
    Green SPEG in DDG2P


    Version 3.88
    Latest signed off version: v3.1 (22 Mar 2023)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • CENTRONUCLEAR MYOPATHY WITH DILATED CARDIOMYOPATHY 615959
    Red SPEG in Intellectual disability - microarray and sequencing

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 5.544
    Latest signed off version: v5.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • BRIDGE study SPEED NEURO Tier1 Gene
    Phenotypes
    • Centronuclear myopathy 5 ( 615959)
    Green SPEG in Paediatric or syndromic cardiomyopathy


    Version 3.47
    Latest signed off version: v3.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Unexplained death in infancy and sudden unexplained death in childhood

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Dilated cardiomyopathy, MONDO:0005021
    • Centronuclear myopathy 5, OMIM:615959
    Green SPEG in Severe Paediatric Disorders


    Version 1.184

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Centronuclear myopathy 5, 615959