1. Genes and Genomic Entities
  2. RHBDF1

RHBDF1

rhomboid 5 homolog 1
OMIM: 614403, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels
Amber RHBDF1 in Dilated and arrhythmogenic cardiomyopathy


Level 2: Cardiology
Version 3.11
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
    Tags
    • watchlist
    Amber RHBDF1 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 BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Dilated cardiomyopathy, MONDO:0005021
    Tags
    • watchlist