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| Cardiomyopathy_Paediatric v0.169 | CAP2 | Zornitza Stark Marked gene: CAP2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiomyopathy_Paediatric v0.169 | CAP2 | Zornitza Stark Gene: cap2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiomyopathy_Paediatric v0.169 | CAP2 | Zornitza Stark Classified gene: CAP2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiomyopathy_Paediatric v0.169 | CAP2 | Zornitza Stark Gene: cap2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiomyopathy_Paediatric v0.168 | CAP2 |
Daniel Flanagan gene: CAP2 was added gene: CAP2 was added to Cardiomyopathy_Paediatric. Sources: Expert list Mode of inheritance for gene: CAP2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CAP2 were set to PMID: 30518548; 33083013; 34862840 Phenotypes for gene: CAP2 were set to Cardiomyopathy, dilated, 2I (MIM#620462) Review for gene: CAP2 was set to GREEN Added comment: Four patients from three families with homozygous variants and early onset DCM. Knockout mouse model shows DCM and cardiac conduction disease. PMID: 33083013: Cheema Homozygous nonsense (p.(Tyr316*)) reported in a DCM and heart failure patient. Two siblings deceased due to DCM but not tested. PMID: 34862840: Gurunathan Homozygous PTC identified in an infant with severe dilated cardiomyopathy, biventricular dysfunction and left ventricular noncompaction. Carrier parents unaffected. PMID: 30518548: Aspit Homozygous canonical splice variant in two cousins from a consanguineous family with DCM. All carriers unaffected. Knockout mouse model shows DCM and cardiac conduction disease. Sources: Expert list |
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