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| Cardiomyopathy_Paediatric v0.173 | RRAGC | Zornitza Stark Phenotypes for gene: RRAGC were changed from Dilated cardiomyopathy (MONDO:0005021), RRAGC-related to Long-Olsen syndrome, MIM# 620609 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiomyopathy_Paediatric v0.160 | RRAGC | Zornitza Stark Phenotypes for gene: RRAGC were changed from Pediatric Dilated Cardiomyopathy to Dilated cardiomyopathy (MONDO:0005021), RRAGC-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiomyopathy_Paediatric v0.159 | RRAGC | Zornitza Stark Publications for gene: RRAGC were set to PMID: 29367541; 27234373 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiomyopathy_Paediatric v0.158 | RRAGC | Zornitza Stark Classified gene: RRAGC as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiomyopathy_Paediatric v0.158 | RRAGC | Zornitza Stark Gene: rragc has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiomyopathy_Paediatric v0.157 | RRAGC | Naomi Baker reviewed gene: RRAGC: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID:37057673, 27234373, 33057194; Phenotypes: Dilated cardiomyopathy (MONDO:0005021), RRAGC-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiomyopathy_Paediatric v0.4 | RRAGC | Zornitza Stark Marked gene: RRAGC as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiomyopathy_Paediatric v0.4 | RRAGC | Zornitza Stark Gene: rragc has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiomyopathy_Paediatric v0.4 | RRAGC | Zornitza Stark Classified gene: RRAGC as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiomyopathy_Paediatric v0.4 | RRAGC | Zornitza Stark Gene: rragc has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiomyopathy_Paediatric v0.3 | RRAGC | Zornitza Stark reviewed gene: RRAGC: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiomyopathy_Paediatric v0.3 | RRAGC |
Elena Savva gene: RRAGC was added gene: RRAGC was added to Cardiomyopathy_Paediatric. Sources: Literature Mode of inheritance for gene: RRAGC was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: RRAGC were set to PMID: 29367541; 27234373 Phenotypes for gene: RRAGC were set to Pediatric Dilated Cardiomyopathy Mode of pathogenicity for gene: RRAGC was set to Other Review for gene: RRAGC was set to AMBER Added comment: PMID: 29367541 - 1 de novo patient (missense) w/ paediatric cardiomyopathy PMID: 27234373 - same de novo missense as above, functional studies show a GOF mechanism MIssense variant is absent from the population (gnomAD) and in a highly constrained region (Decipher) Sources: Literature |
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