Dilated cardiomyopathy - adult and teenGene: RHBDF1
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"
Created: 4 May 2021, 12:52 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Gene: rhbdf1 has been classified as Amber List (Moderate Evidence).
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