Genes in panel

Fetal anomalies

Gene: FHL2

Amber List (moderate evidence)

FHL2 (four and a half LIM domains 2)
EnsemblGeneIds (GRCh38): ENSG00000115641
EnsemblGeneIds (GRCh37): ENSG00000115641
OMIM: 602633, Gene2Phenotype
FHL2 is in 2 panels

2 reviews

Ida Ertmanska (Genomics England Curator)

This gene and phenotype were reviewed during meetings in July and August 2026. The meetings included representatives of the North Thames and Central and South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Louise Carr (North Thames GLH), Sarah Graham & Elizabeth Young (Central & South GLH), and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Sunayna Best, Soo-Mi Park & Tessa Homfray (R21 Clinical Oversight Group).
Created: 29 Oct 2026, 4:13 p.m. | Last Modified: 29 Oct 2026, 4:13 p.m.
Panel Version: 8.26

Esther Kinning (NHS Greater Glasgow and Clyde)

I don't know

one case report presenting with hydrops, one with ventricular enlargement at 5 months, screening of 121 mostly adult HCM cases identified variants in 5. need more info on prenatal phenotype and not on any other panels yet
Created: 29 Oct 2026, 3:51 p.m. | Last Modified: 29 Oct 2026, 3:51 p.m.
Panel Version: 8.25

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Congential dilated cardiomyopathy; dilated cardiomyopathy, MONDO:0005021

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
  • Expert Review Amber
Phenotypes
  • Congential dilated cardiomyopathy
  • dilated cardiomyopathy, MONDO:0005021
OMIM
602633
Clinvar variants
Variants in FHL2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

29 Oct 2026, Gel status: 2

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

Ida Ertmanska (Genomics England Curator)

gene: FHL2 was added gene: FHL2 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: FHL2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: FHL2 were set to 41039806; 36854411; 25358972 Phenotypes for gene: FHL2 were set to Congential dilated cardiomyopathy; dilated cardiomyopathy, MONDO:0005021