| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Cardiomyopathy_Paediatric v1.15 | RBM10 | Zornitza Stark Marked gene: RBM10 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiomyopathy_Paediatric v1.15 | RBM10 | Zornitza Stark Gene: rbm10 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiomyopathy_Paediatric v1.15 | RBM10 | Zornitza Stark Mode of inheritance for gene: RBM10 was changed from X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) to X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiomyopathy_Paediatric v1.14 | RBM10 | Zornitza Stark Classified gene: RBM10 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiomyopathy_Paediatric v1.14 | RBM10 | Zornitza Stark Gene: rbm10 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiomyopathy_Paediatric v1.13 | RBM10 |
Zornitza Stark gene: RBM10 was added gene: RBM10 was added to Cardiomyopathy_Paediatric. Sources: Literature Mode of inheritance for gene: RBM10 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: RBM10 were set to 30450804 Phenotypes for gene: RBM10 were set to TARP syndrome, MONDO:0010711 Review for gene: RBM10 was set to GREEN Added comment: PMID 30450804 reports one individual with X-linked loss-of-function RBM10 variant presenting with hypertrophic obstructive cardiomyopathy as part of TARP syndrome. The syndrome includes talipes, atrial septal defect, Robin sequence and additional anomalies. Paper reviews literature and identifies two previous reports. Sources: Literature |
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