1. Genes and Genomic Entities
  2. SPEG

SPEG

SPEG complex locus
OMIM: 615950, Gene2Phenotype

7 panels

Panel Reviews Mode of inheritance Details
7 panels
Green SPEG in Dilated Cardiomyopathy and conduction defects

Level 3: Cardiomyopathy
Level 2: Cardiovascular disorders
Version 1.97

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 2: Neurology
Version 6.45
Latest signed off version: v6.0 (30 Apr 2025)

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 2: Cardiology
    Version 3.13
    Latest signed off version: v3.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Sudden unexplained death or survivors of a cardiac event
  • Unexplained death in infancy and sudden unexplained death in childhood

    		•  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


    Level 2: Fetal (including NIPD)
    Version 6.157
    Latest signed off version: v6.0 (30 Apr 2025)

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


    Version 6.426
    Latest signed off version: v6.0 (30 Apr 2025)

    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


    Level 2: Developmental disorders
    Version 9.304
    Latest signed off version: v9.0 (30 Apr 2025)

    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


    Level 2: Cardiology
    Version 7.98
    Latest signed off version: v7.0 (30 Apr 2025)

    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