Cardiomyopathies - including childhood onsetGene: RHBDF1
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
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.
Created: 16 Apr 2021, 9:25 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Tag watchlist tag was added to gene: RHBDF1.
Gene: rhbdf1 has been classified as Amber List (Moderate Evidence).
Phenotypes for gene: RHBDF1 were changed from Dilated cardiomyopathy to Dilated cardiomyopathy, MONDO:0005021
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