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 1.4

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

Red MIB1 in Autism


Version 0.22

review Not set
Sources
  • Expert Review Red
  • SFARI

Red MIB1 in Intellectual disability

Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 3.1371
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 Not set
    Sources
    • Expert Review Red

    Green MIB1 in Cardiomyopathies - including childhood onset


    Version 1.57
    Latest signed off version: v1.4 (19 Feb 2020)

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • NHS GMS
    • South West GLH
    • London South GLH
    • Expert Review Green
    Phenotypes
    • Left ventricular noncompaction 7, OMIM:615092
    Tags
    • Q2_21_rating
    • Q2_21_NHS_review