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| Cardiomyopathy_Paediatric v1.36 | PIGA | Lucy Spencer Classified gene: PIGA as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiomyopathy_Paediatric v1.36 | PIGA | Lucy Spencer Gene: piga has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiomyopathy_Paediatric v1.35 | PIGA |
Lucy Spencer gene: PIGA was added gene: PIGA was added to Cardiomyopathy_Paediatric. Sources: Literature Mode of inheritance for gene: PIGA was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: PIGA were set to 32452540; 37489290 Phenotypes for gene: PIGA were set to Multiple congenital anomalies-hypotonia-seizures syndrome 2 MIM#300868 Review for gene: PIGA was set to AMBER Added comment: PMID 32452540 lists cardiomyopathy as a feature in 3 of their 76 patients with multiple congenital anomalies-hypotonia-seizures syndrome. PMID 37489290 reports 4 unrelated patients with PIGA encephalopathy and DCM (1 overlaps with PMID 32452540). Also report a further 2 individuals with PIGA-related encephalopathy and left/right ventricular hypertrophy. Sources: Literature |
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