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Cardiomyopathies - including childhood onset

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

1 review

Ivone Leong (Genomics England Curator)

Green List (high evidence)

Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Green on this panel.
Sources: Expert list
Created: 9 Dec 2019, 3:05 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Hypertrophic cardiomyopathy

Details

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

History Filter Activity

9 Dec 2019, Gel status: 3

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: fhod3 has been classified as Green List (High Evidence).

9 Dec 2019, Gel status: 1

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

Ivone Leong (Genomics England Curator)

gene: FHOD3 was added gene: FHOD3 was added to Cardiomyopathies - including childhood onset. Sources: Expert list Mode of inheritance for gene: FHOD3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: FHOD3 were set to Hypertrophic cardiomyopathy Review for gene: FHOD3 was set to GREEN