Paediatric disorders - additional genes
Gene: RBFOX2EnsemblGeneIds (GRCh38): ENSG00000100320
EnsemblGeneIds (GRCh37): ENSG00000100320
OMIM: 612149, Gene2Phenotype
RBFOX2 is in 2 panels
2 reviews
Ida Ertmanska (Genomics England Curator)
The rating of this gene has been updated to green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.Created: 11 Mar 2026, 12:58 p.m. | Last Modified: 11 Mar 2026, 12:58 p.m.
Panel Version: 7.33
Arina Puzriakova (Genomics England Curator)
Comment on list classification: Details on patient cases in the literature are limited, however, the same clinical phenotype of hypoplastic left heart syndrome is reported in multiple unrelated individuals with monoallelic variants in the RBFOX2 gene.
ClinGen have classified this association as definitive (assessed 14/05/2024) - https://search.clinicalgenome.org/CCID:008203
On this basis, this gene should be promoted to Green at the next GMS panel update.Created: 20 Oct 2025, 3:36 p.m. | Last Modified: 20 Oct 2025, 3:41 p.m.
Panel Version: 7.17
- PMID: 25205790 - de novo copy number loss that encompasses RBFOX2 in another proband with hypoplastic left heart syndrome
- PMID: 26785492 - three unrelated cases with distinct de novo LOF variants in the RBFOX2 gene and hypoplastic left heart syndrome
- PMID: 28991257 - de novo missense variant identified in a patient with congenital heart disease (conotruncal defects)
- PMID: 36198703 - zebrafish model lacking two Rbfox2 orthologs exhibited ventricular size and contractility deficits, which were rescued by injection of human RBFOX2 mRNA
- PMID: 35137168 - Rbfox2 conditional knockout mouse model showed embryonic heart developmental defects and recapitulated several molecular and phenotypic features hypoplastic left heart syndrome
- PMID: 37165897 - de novo missense variant identified in patient with hypoplastic left heart syndrome
Sources: ClinGen, LiteratureCreated: 20 Oct 2025, 3:30 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Congenital heart disease, MONDO:0005453; hypoplastic left heart syndrome
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- NHS GMS
- Literature
- ClinGen
- 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
Removed Tag
Ida Ertmanska (Genomics England Curator)Tag Q3_25_promote_green was removed from gene: RBFOX2.
Added New Source, Added New Source, Status Update
Ida Ertmanska (Genomics England Curator)Source NHS GMS was added to RBFOX2. Source Expert Review Green was added to RBFOX2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: RBFOX2 were changed from Congenital heart disease, MONDO:0005453; hypoplastic left heart syndrome to Congenital heart disease, MONDO:0005453; hypoplastic left heart syndrome, MONDO:0004933
Entity classified by Genomics England curator
Arina Puzriakova (Genomics England Curator)Gene: rbfox2 has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Added Tag, Set mode of inheritance, Set publications, Set Phenotypes
Arina Puzriakova (Genomics England Curator)gene: RBFOX2 was added gene: RBFOX2 was added to Paediatric disorders - additional genes. Sources: ClinGen,Literature Q3_25_promote_green tags were added to gene: RBFOX2. Mode of inheritance for gene: RBFOX2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: RBFOX2 were set to 26785492; 25205790; 28991257; 35137168; 37165897 Phenotypes for gene: RBFOX2 were set to Congenital heart disease, MONDO:0005453; hypoplastic left heart syndrome Review for gene: RBFOX2 was set to GREEN