Hypertrophic cardiomyopathy - teen and adult

Gene: FHOD3

Green List (high evidence)

FHOD3 (formin homology 2 domain containing 3)
EnsemblGeneIds (GRCh38): ENSG00000134775
EnsemblGeneIds (GRCh37): ENSG00000134775
OMIM: 609691, Gene2Phenotype
FHOD3 is in 3 panels

2 reviews

Kate Thomson (Oxford University Hospitals Foundation Trust)

Green List (high evidence)

Submitted on behalf of the GMS Cardiology specialist group. This gene did not achieve a consensus Green rating; however, the group agreed that the existing evidence (published and in-house data) was sufficient to support inclusion in this panel.
Created: 9 Dec 2019, 1:19 p.m. | Last Modified: 9 Dec 2019, 1:19 p.m.
Panel Version: 1.93

Ivone Leong (Genomics England Curator)

I don't know

Submitted on behalf of the GMS Cardiology specialist group. New gene added to the panel. The group has agreed that this gene should be Amber on this panel.
Created: 2 Dec 2019, 11:26 a.m. | Last Modified: 2 Dec 2019, 11:26 a.m.
Panel Version: 1.81

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Hypertrophic cardiomyopathy
OMIM
609691
Clinvar variants
Variants in FHOD3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

9 Dec 2019, Gel status: 3

Added New Source, Status Update

Ivone Leong (Genomics England Curator)

Source Expert Review Green was added to FHOD3. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

2 Dec 2019, Gel status: 2

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

Ivone Leong (Genomics England Curator)

gene: FHOD3 was added gene: FHOD3 was added to Hypertrophic cardiomyopathy - teen and adult. Sources: NHS GMS,Expert Review Amber Mode of inheritance for gene: FHOD3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: FHOD3 were set to 23255317; 29907873; 31742804 Phenotypes for gene: FHOD3 were set to Hypertrophic cardiomyopathy