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Fetal anomalies

Gene: FLII

Amber List (moderate evidence)
FLII (FLII, actin remodeling protein)
EnsemblGeneIds (GRCh38): ENSG00000177731
EnsemblGeneIds (GRCh37): ENSG00000177731
OMIM: 600362, Gene2Phenotype
FLII is in 3 panels

3 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

I don't know

After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed and remains amber. The GMS reviewers commented as follows: The reason for amber for this gene was because it causes isolated cardiac anomalies which is not an indication for R21 fetal anomaly testing. We do want to keep watch in case of new reports where it is not isolated.
Created: 12 Dec 2025, 3:10 p.m. | Last Modified: 12 Dec 2025, 3:10 p.m.
Panel Version: 6.120
Created: 12 Dec 2025, 3:10 p.m.
Last Modified: 12 Dec 2025, 3:10 p.m.
Panel version: 6.120

Arina Puzriakova (Genomics England Curator)

I don't know

Maintaining as Amber following further consultation with the expert group - this gene causes isolated cardiac anomalies which is not an indication for R21 fetal anomaly testing. However, we do want to monitor in case of new reports where it is not isolated.
Created: 26 Sep 2025, 2:52 p.m. | Last Modified: 26 Sep 2025, 2:52 p.m.
Panel Version: 6.85
New gene added to this panel with an Amber rating, inline with the recent review by the R21 Clinical Oversight Group. However, tagging for additional review as this rating contradicts the review comment "Sufficient evidence for gene-disease association and may present prenatally with structural heart defects in some cases" and this gene is tagged for promotion to Green on the R135 Paediatric or syndromic cardiomyopathy panel.
Created: 5 Sep 2025, 4:41 p.m. | Last Modified: 8 Sep 2025, 4:16 p.m.
Panel Version: 6.82
Created: 5 Sep 2025, 4:41 p.m.
Last Modified: 8 Sep 2025, 4:16 p.m.
Panel version: 6.85

Sarah Graham (West Midlands Regional Genetics Laboratory, Birmingham Women's and Children’s NHS Foundation Trust)

I don't know

This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Created: 5 Sep 2025, 4:31 p.m. | Last Modified: 5 Sep 2025, 4:31 p.m.
Panel Version: 6.28
Recessive dilated cardiomyopathy with onset of heart failure within the first year of life - 3 unrelated patients with different variants. 1 patient with atrial septal defect (patient 5 in 32870709 / 2-II:1 in 37561591). No extracardiac findings. Also GWAS association with cardiomyopathy (37126682). Amber on cardiomyopathy panels but with green reviews. Sufficient evidence for gene-disease association and may present prenatally with structural heart defects in some cases.
Created: 5 Sep 2025, 2:55 p.m. | Last Modified: 5 Sep 2025, 2:55 p.m.
Panel Version: 6.24

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Cardiomyopathy, dilated, 2J

Publications

Created: 5 Sep 2025, 2:55 p.m.
Last Modified: 5 Sep 2025, 2:55 p.m.
Panel version: 6.28

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Cardiomyopathy, dilated, 2J
OMIM
600362
Clinvar variants
Variants in FLII
Penetrance
None
Publications
Panels with this gene

History Filter Activity

26 Sep 2025, Gel status: 2

Removed Tag, Removed Tag, Removed Tag

Arina Puzriakova (Genomics England Curator)

Tag Q3_25_promote_green was removed from gene: FLII. Tag Q3_25_expert_review was removed from gene: FLII. Tag Q3_25_NHS_review was removed from gene: FLII.

8 Sep 2025, Gel status: 2

Added Tag, Added Tag, Added Tag

Arina Puzriakova (Genomics England Curator)

Tag Q3_25_promote_green tag was added to gene: FLII. Tag Q3_25_expert_review tag was added to gene: FLII. Tag Q3_25_NHS_review tag was added to gene: FLII.

5 Sep 2025, Gel status: 2

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

Arina Puzriakova (Genomics England Curator)

gene: FLII was added gene: FLII was added to Fetal anomalies. Sources: Expert Review Amber Mode of inheritance for gene: FLII was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FLII were set to 37561591; 32870709 Phenotypes for gene: FLII were set to Cardiomyopathy, dilated, 2J