Dilated and arrhythmogenic cardiomyopathy
Gene: RHBDF1

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

Publications

32870709

Created: 4 May 2021, 12:52 p.m.

Panel version: 1.23

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Amber
Literature

Transcripts

Dilated cardiomyopathy, MONDO:0005021

Tags

watchlist

OMIM

614403

Clinvar variants

Variants in RHBDF1

Penetrance

None

Publications

32870709

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