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Congenital Heart Defect v0.414 RBFOX2 Ain Roesley Publications for gene: RBFOX2 were set to 26785492; 27670201; 27485310; 25205790; 35137168; 26785492
Congenital Heart Defect v0.413 RBFOX2 Ain Roesley commented on gene: RBFOX2
Congenital Heart Defect v0.215 RBFOX2 Zornitza Stark Marked gene: RBFOX2 as ready
Congenital Heart Defect v0.215 RBFOX2 Zornitza Stark Gene: rbfox2 has been classified as Amber List (Moderate Evidence).
Congenital Heart Defect v0.215 RBFOX2 Zornitza Stark Classified gene: RBFOX2 as Amber List (moderate evidence)
Congenital Heart Defect v0.215 RBFOX2 Zornitza Stark Gene: rbfox2 has been classified as Amber List (Moderate Evidence).
Congenital Heart Defect v0.214 RBFOX2 Zornitza Stark 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
Added comment: - 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