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 3: Cardiomyopathy
Level 2: Cardiovascular disorders
Version 2.25
Latest signed off version: v2.23 (1 May 2024)

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


    Version 4.1
    Latest signed off version: v4.0 (1 May 2024)

    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