Activity
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8 actions
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| Paediatric disorders - additional genes v7.17 | RBFOX2 |
Arina Puzriakova changed review comment from: 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 05/14/2024 - https://search.clinicalgenome.org/CCID:008203). On this basis, this gene should be promoted to Green at the next GMS panel update.; to: 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. |
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| Paediatric disorders - additional genes v7.17 | RBFOX2 |
Arina Puzriakova changed review comment from: 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 05/14/2024 - https://search.clinicalgenome.org/CCID:008203) and on this basis this gene should be promoted to Green at the next GMS panel update.; to: 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 05/14/2024 - https://search.clinicalgenome.org/CCID:008203). On this basis, this gene should be promoted to Green at the next GMS panel update. |
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| Paediatric disorders - additional genes v7.17 | RBFOX2 |
Arina Puzriakova changed review comment from: 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. ClinGen have classified this association as definitive (assessed 05/14/2024 - https://search.clinicalgenome.org/CCID:008203) and on this basis this gene should be promoted to Green at the next GMS panel update.; to: 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 05/14/2024 - https://search.clinicalgenome.org/CCID:008203) and on this basis this gene should be promoted to Green at the next GMS panel update. |
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| Paediatric disorders - additional genes v7.17 | RBFOX2 | Arina Puzriakova 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric disorders - additional genes v7.16 | RBFOX2 | Arina Puzriakova Classified gene: RBFOX2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric disorders - additional genes v7.16 | RBFOX2 | Arina Puzriakova Added comment: 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. ClinGen have classified this association as definitive (assessed 05/14/2024 - https://search.clinicalgenome.org/CCID:008203) and on this basis this gene should be promoted to Green at the next GMS panel update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric disorders - additional genes v7.16 | RBFOX2 | Arina Puzriakova Gene: rbfox2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric disorders - additional genes v7.15 | RBFOX2 |
Arina Puzriakova 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 Added comment: - 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, Literature |
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