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Cardiomyopathies - including childhood onset

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

2 reviews

Ivone Leong (Genomics England Curator)

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.
Created: 20 Apr 2021, 10:26 a.m. | Last Modified: 20 Apr 2021, 10:26 a.m.
Panel Version: 1.37

Zornitza Stark (Australian Genomics)

I don't know

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
Created: 16 Apr 2021, 9:25 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Dilated cardiomyopathy

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Dilated cardiomyopathy, MONDO:0005021
Tags
watchlist
OMIM
614403
Clinvar variants
Variants in RHBDF1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Apr 2021, Gel status: 2

Added Tag

Ivone Leong (Genomics England Curator)

Tag watchlist tag was added to gene: RHBDF1.

20 Apr 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).

20 Apr 2021, Gel status: 0

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: RHBDF1 were changed from Dilated cardiomyopathy to Dilated cardiomyopathy, MONDO:0005021

16 Apr 2021, Gel status: 0

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

Zornitza Stark (Australian Genomics)

gene: RHBDF1 was added gene: RHBDF1 was added to Cardiomyopathies - including childhood onset. Sources: Literature Mode of inheritance for gene: RHBDF1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RHBDF1 were set to 32870709 Phenotypes for gene: RHBDF1 were set to Dilated cardiomyopathy Review for gene: RHBDF1 was set to AMBER