MIB1

mindbomb E3 ubiquitin protein ligase 1
OMIM: 608677, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels
Red MIB1 in Left Ventricular Noncompaction Cardiomyopathy

Level 3: Cardiomyopathy
Level 2: Cardiovascular disorders
Version 1.5

review Not set
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Left ventricular noncompaction 7
Red MIB1 in DDG2P


Version 6.424
Latest signed off version: v6.0 (30 Apr 2025)

Component of the following Super Panels:

  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Red
    • DD-Gene2Phenotype
    Phenotypes
    • MIB1-related developmental disorder (monoallelic)
    Red MIB1 in Intellectual disability


    Level 2: Developmental disorders
    Version 9.285
    Latest signed off version: v9.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • review Not set
    Sources
    • Expert Review Red
    Amber MIB1 in Paediatric or syndromic cardiomyopathy


    Level 2: Cardiology
    Version 7.96
    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 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • NHS GMS
    • South West GLH
    • London South GLH
    Phenotypes
    • Left ventricular noncompaction 7, OMIM:615092