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| Cardiomyopathy_Paediatric v0.71 | PMM2 | Zornitza Stark Phenotypes for gene: PMM2 were changed from hypotonia; intellectual disability; cerebellar signs; pericarditis; cardiomyopathy; cardiac malformation; chronic diarrhoea; protein-losing enteropathy; ascites; cover failure; nephrotic syndrome; hydros to Congenital disorder of glycosylation, type Ia, MIM# 212065; hypotonia; intellectual disability; cerebellar signs; pericarditis; cardiomyopathy; cardiac malformation; chronic diarrhoea; protein-losing enteropathy; ascites; cover failure; nephrotic syndrome; hydros | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiomyopathy_Paediatric v0.65 | PMM2 |
John Christodoulou gene: PMM2 was added gene: PMM2 was added to Cardiomyopathy_Paediatric. Sources: Literature Mode of inheritance for gene: PMM2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PMM2 were set to PMID: 28954837: PMID: 33388235 Phenotypes for gene: PMM2 were set to hypotonia; intellectual disability; cerebellar signs; pericarditis; cardiomyopathy; cardiac malformation; chronic diarrhoea; protein-losing enteropathy; ascites; cover failure; nephrotic syndrome; hydros Penetrance for gene: PMM2 were set to Complete Review for gene: PMM2 was set to RED Added comment: OMIM 212065 The two papers cited above are both review papers - the first describes a cohort of 96 patients - 9 had cardiomyopathy Sources: Literature |
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| Cardiomyopathy_Paediatric v0.0 | GNS |
Zornitza Stark gene: GNS was added gene: GNS was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,Expert Review Red,MetBioNet Mode of inheritance for gene: GNS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GNS were set to 27604308 Phenotypes for gene: GNS were set to Mucopolysaccharidosis type IIID, 252940; Mucopolysaccharidosis Type III; Mucopolysaccharidosis Type IIID; Mucopolysaccharidosis, Type III; MPS IIID, Sanfilippo D disease (Mucopolysaccharidoses) |
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