1. Panels
  2. Fetal anomalies
  3. RBFOX2
Genes in panel
Prev Next

Fetal anomalies

Gene: RBFOX2

Amber List (moderate evidence)
RBFOX2 (RNA binding fox-1 homolog 2)
EnsemblGeneIds (GRCh38): ENSG00000100320
EnsemblGeneIds (GRCh37): ENSG00000100320
OMIM: 612149, Gene2Phenotype
RBFOX2 is in 2 panels

2 reviews

Arina Puzriakova (Genomics England Curator)

I don't know

New gene added to this panel with an Amber rating, inline with the recent review by the R21 Clinical Oversight Group.
Created: 5 Sep 2025, 4:41 p.m. | Last Modified: 5 Sep 2025, 4:41 p.m.
Panel Version: 6.29
Created: 5 Sep 2025, 4:41 p.m.
Last Modified: 5 Sep 2025, 4:41 p.m.
Panel version: 6.29

Anna de Burca (Oxford University Hospitals 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
Looks like a predisposing factor at the moment - leave Amber? Isolated CHD not currently eligible
Created: 5 Sep 2025, 2:55 p.m. | Last Modified: 5 Sep 2025, 2:55 p.m.
Panel Version: 6.24

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Congenital heart disease, MONDO:0005453

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
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
Phenotypes
  • Congenital heart disease, MONDO:0005453
  • hypoplastic left heart syndrome, MONDO:0004933
OMIM
612149
Clinvar variants
Variants in RBFOX2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Oct 2025, Gel status: 2

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: RBFOX2 were changed from Congenital heart disease, MONDO:0005453 to Congenital heart disease, MONDO:0005453; hypoplastic left heart syndrome, MONDO:0004933

5 Sep 2025, Gel status: 2

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

Arina Puzriakova (Genomics England Curator)

gene: RBFOX2 was added gene: RBFOX2 was added to Fetal anomalies. Sources: Expert Review Amber Mode of inheritance for gene: RBFOX2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: RBFOX2 were set to 27670201; 25205790; 37165897; 26785492; 27485310; 35137168 Phenotypes for gene: RBFOX2 were set to Congenital heart disease, MONDO:0005453