| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Cardiomyopathy_Paediatric v1.7 | ITPA | Zornitza Stark Marked gene: ITPA as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiomyopathy_Paediatric v1.7 | ITPA | Zornitza Stark Gene: itpa has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiomyopathy_Paediatric v1.7 | ITPA | Zornitza Stark Classified gene: ITPA as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiomyopathy_Paediatric v1.7 | ITPA | Zornitza Stark Gene: itpa has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiomyopathy_Paediatric v1.6 | ITPA |
Zornitza Stark gene: ITPA was added gene: ITPA was added to Cardiomyopathy_Paediatric. Sources: Literature Mode of inheritance for gene: ITPA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ITPA were set to 30856165; 30816001 Phenotypes for gene: ITPA were set to inosine triphosphatase deficiency, MONDO:0013461 Review for gene: ITPA was set to AMBER Added comment: PMID 30816001 and PMID 30856165 collectively report three unrelated families with biallelic ITPA variants presenting with early infantile encephalopathy (seizures, developmental delay, microcephaly, cataracts) and dilated cardiomyopathy of childhood onset. DCM present in 3/8 families reported. Sources: Literature |
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