Dilated cardiomyopathy - adult and teen

Gene: RHBDF1

Amber List (moderate evidence)

RHBDF1 (rhomboid 5 homolog 1)
EnsemblGeneIds (GRCh38): ENSG00000007384
EnsemblGeneIds (GRCh37): ENSG00000007384
OMIM: 614403, Gene2Phenotype
RHBDF1 is in 2 panels

1 review

Ivone Leong (Genomics England Curator)

I don't know

This gene is rated Amber on the Cardiomyopathies - including childhood onset (Version 1.39) panel with the following reviews:

"Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is not associated with a phenotype in OMIM or Gene2Phenotype. There is currently not enough evidence to support a gene-disease association. This gene has been given an Amber rating.
Ivone Leong (Genomics England Curator), 20 Apr 2021"

"Three families reported with homozygous variants in this gene and onset of DCM in infancy/childhood. Two of the families had the same truncating variant, indicative of founder effect, and one family had a homozygous missense variant. Sources: Literature
Zornitza Stark (Australian Genomics), 16 Apr 2021"
Sources: Literature
Created: 4 May 2021, 12:52 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal



Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
  • Expert Review Amber
  • Literature
  • Dilated cardiomyopathy, MONDO:0005021
Clinvar variants
Variants in RHBDF1
Panels with this gene

History Filter Activity

4 May 2021, Gel status: 2

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: rhbdf1 has been classified as Amber List (Moderate Evidence).

4 May 2021, Gel status: 1

Created, Added New Source, Added Tag, Set mode of inheritance, Set publications

Ivone Leong (Genomics England Curator)

gene: RHBDF1 was added gene: RHBDF1 was added to Dilated cardiomyopathy - adult and teen. Sources: Literature watchlist tags were added to gene: RHBDF1. Mode of inheritance for gene: RHBDF1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RHBDF1 were set to 32870709 Review for gene: RHBDF1 was set to AMBER