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  2. Cardiomyopathy_Paediatric
  3. RHBDF1
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Cardiomyopathy_Paediatric

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

Zornitza Stark (Victorian Clinical Genetics Services; 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: 20 Mar 2021, 2:48 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Dilated cardiomyopathy

Publications

Created: 20 Mar 2021, 2:48 a.m.

Panel version: 0.55

Details

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

History Filter Activity

20 Mar 2021, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

20 Mar 2021, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

20 Mar 2021, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: RHBDF1 was added gene: RHBDF1 was added to Cardiomyopathy_Paediatric. 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