Dilated Cardiomyopathy and conduction defects
Gene: FHL2EnsemblGeneIds (GRCh38): ENSG00000115641
EnsemblGeneIds (GRCh37): ENSG00000115641
OMIM: 602633, Gene2Phenotype
FHL2 is in 1 panel
2 reviews
Rebecca Whittington (South West GLH)
Phenotype not listed on OMIMCreated: 25 Mar 2019, 4:30 p.m.
HGMD Only two variants assoc with DCM - both know freq but classed as 3 in Walsh 2017 and Dal Ferro 2017. Also only 2 DM variants assoc with HCM - but some functional studies show downregulation of this gene in HCM: Friedrich (2014) Basic Res Cardiol 109: 451 PubMed: 25358972 FHL2 expression and variants in hypertrophic cardiomyopathy.Created: 25 Mar 2019, 4:27 p.m.
Variants in this GENE are reported as part of current diagnostic practice
Oxford Medical Genetics Laboratory (OUH NHS Foundation Trust)
Details
- Sources
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- South West GLH
- Expert list
- OMIM
- 602633
- Clinvar variants
- Variants in FHL2
- Penetrance
- Complete
- Panels with this gene
History Filter Activity
Added New Source
Ellen McDonagh (Genomics England Curator)Source South West GLH was added to FHL2.
Added New Source
Ellen McDonagh (Genomics England Curator)FHL2 was added to Dilated Cardiomyopathy and conduction defectspanel. Sources: Expert list