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Congenital Heart Defect

Gene: RBFOX2

Green List (high evidence)

RBFOX2 (RNA binding fox-1 homolog 2)
EnsemblGeneIds (GRCh38): ENSG00000100320
EnsemblGeneIds (GRCh37): ENSG00000100320
OMIM: 612149, Gene2Phenotype
RBFOX2 is in 3 panels

2 reviews

Ain Roesley (Victorian Clinical Genetics Services)

PMID: 37165897

1x 'splice altering' de novo in in an individual with HLSH + AVSD
Created: 26 Mar 2024, 2:08 a.m. | Last Modified: 26 Mar 2024, 2:08 a.m.
Panel Version: 0.413

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

STRONG by ClinGen. At least 5 unrelated families and supportive zebrafish model.
Created: 12 Jan 2025, 11:58 p.m. | Last Modified: 12 Jan 2025, 11:58 p.m.
Panel Version: 0.425
- PMID: 26785492: Analysed CHD (1213 congenital heart disease trios) and control (autism spectrum disorder) trios for de novo mutations. Found RBFOX2 gene had significantly more damaging de novo variants than expected: 3 de novo LoF variants (eg. nonsense, frameshift, or canonical splice disruptions). All 3 probands have hypoplastic left heart syndrome (HLHS). No further patient-specific clinical or variant info were available. Same cohort later included in PMID: 32368696, listed 4 de novo variants in this gene, in patients with left ventricular outflow tract obstruction (LVOTO) or conotruncal defects (CTDs).

- PMID: 27670201: RNA expression study showed the silenced allele harbours a nonsense RBFOX2 variant (Arg287*), CHD patient heart tissue sample, same patient published in PMID: 26785492.
- PMID: 27485310: Functional studies using heart tissue sample from HLHS patient with NM_001031695.2:c.859C>T p.(Arg287*) showed subcellular mislocalisation, impacting its nuclear function in RNA splicing.

- PMID: 25205790: De novo 111.3kb del chr22:36038076-36149338 (hg19) which includes APOL5,APOL6,RBFOX2, in a patient with HLHS.

- PMID: 35137168: Rbfox2 conditional knockout mouse model recapitulated several molecular and phenotypic features of HLHS.
Sources: Expert Review
Created: 25 May 2022, 3:59 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Congenital heart disease MONDO:0005453, RBFOX2-related

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • RBFOX2-related congenital heart disorder (MONDO:0100557)
OMIM
612149
Clinvar variants
Variants in RBFOX2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

13 Jan 2025, Gel status: 3

Set Phenotypes

Ain Roesley (Victorian Clinical Genetics Services)

Phenotypes for gene: RBFOX2 were changed from RBFOX2-related congenital heart disorder (MONDO:0100557) to RBFOX2-related congenital heart disorder (MONDO:0100557)

13 Jan 2025, Gel status: 3

Set Phenotypes

Ain Roesley (Victorian Clinical Genetics Services)

Phenotypes for gene: RBFOX2 were changed from Congenital heart disease MONDO:0005453, RBFOX2-related to RBFOX2-related congenital heart disorder (MONDO:0100557)

12 Jan 2025, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: RBFOX2 were changed from Hypoplastic left heart syndrome (HLHS) MONDO:0004933 to Congenital heart disease MONDO:0005453, RBFOX2-related

12 Jan 2025, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: rbfox2 has been classified as Green List (High Evidence).

26 Mar 2024, Gel status: 2

Set publications

Ain Roesley (Victorian Clinical Genetics Services)

Publications for gene: RBFOX2 were set to 26785492; 27670201; 27485310; 25205790; 35137168; 26785492

25 May 2022, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: rbfox2 has been classified as Amber List (Moderate Evidence).

25 May 2022, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: rbfox2 has been classified as Amber List (Moderate Evidence).

25 May 2022, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: RBFOX2 was added gene: RBFOX2 was added to Congenital Heart Defect. Sources: Expert Review Mode of inheritance for gene: RBFOX2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: RBFOX2 were set to 26785492; 27670201; 27485310; 25205790; 35137168; 26785492 Phenotypes for gene: RBFOX2 were set to Hypoplastic left heart syndrome (HLHS) MONDO:0004933 Review for gene: RBFOX2 was set to AMBER