Cardiomyopathy_Paediatric
Gene: FHL2EnsemblGeneIds (GRCh38): ENSG00000115641
EnsemblGeneIds (GRCh37): ENSG00000115641
OMIM: 602633, Gene2Phenotype
FHL2 is in 4 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Emerging evidence that variants in this gene may be associated with cardiomyopathy.
Reports of HCM and DCM.
c.391C>T (p.Arg131Cys) may be recurrent in early-onset DCM.
Sources: Expert ReviewCreated: 19 Mar 2024, 7:13 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Cardiomyopathy, MONDO:0004994, FHL2-related
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Amber
- Expert Review
- Phenotypes
-
- Cardiomyopathy, MONDO:0004994, FHL2-related
- OMIM
- 602633
- Clinvar variants
- Variants in FHL2
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: fhl2 has been classified as Amber List (Moderate Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: fhl2 has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: FHL2 was added gene: FHL2 was added to Cardiomyopathy_Paediatric. Sources: Expert Review Mode of inheritance for gene: FHL2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: FHL2 were set to 36854411; 25358972 Phenotypes for gene: FHL2 were set to Cardiomyopathy, MONDO:0004994, FHL2-related Review for gene: FHL2 was set to AMBER