MIB1

mindbomb E3 ubiquitin protein ligase 1
OMIM: 608677, Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels

Amber MIB1 in Congenital Heart Defect


Level 2: Cardiovascular disorders
Version 0.418

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Expert Review
Phenotypes
  • Congenital heart disease

Amber MIB1 in Mendeliome


Version 1.1891

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Left ventricular noncompaction 7 MIM#615092
  • cardiomyopathy
  • congenital heart disease

Red MIB1 in Cardiomyopathy_Paediatric


Level 2: Cardiovascular disorders
Version 0.192

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • London South GLH
  • South West GLH
  • NHS GMS
Phenotypes
  • Left ventricular noncompaction 7, MIM# 615092
  • cardiomyopathy

Red MIB1 in Additional findings_Paediatric


Level 2: Screening
Version 0.278

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • BabySeq Category C gene
Phenotypes
  • Left ventricular noncompaction

Amber MIB1 in Fetal anomalies


Version 1.255

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
  • Expert list
Phenotypes
  • Congenital heart disease

Red MIB1 in BabyScreen+ newborn screening


Level 2: Screening
Version 1.113

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Left ventricular noncompaction