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| Cardiomyopathy_Paediatric v0.13 | PGM1 |
Sarah Donoghue gene: PGM1 was added gene: PGM1 was added to Cardiomyopathy_Paediatric. Sources: Expert Review Mode of inheritance for gene: PGM1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PGM1 were set to PMID: 31563034; PMID: 26303607PMID: 24878975; PMID: 27206562; PMID: 29858906; PMID: 32681750 Phenotypes for gene: PGM1 were set to Dilated Cardiomyopathy; Cleft Palate; Bifid Uvula; Hypothyroidism; Hepatopathy; Elevated transaminases; Hypogonadotropic hypogonadism; Hypoglycaemia; Rhabdomyolysis; Skeletal myopathy; Malignant hypothermia; Abnormal Coagulation Penetrance for gene: PGM1 were set to Complete Review for gene: PGM1 was set to GREEN gene: PGM1 was marked as current diagnostic Added comment: Mixed type disorder of glycosylation - may have type I/II pattern Often glycosylation abnormalities less prominent in adulthood May also normalise with high milk intake Abnormalities of coagulation, hypothyroidism, hypogonadotrophic hypogonadism, hypoglycaemia, can have abnormal IGF1, IGFB3 This condition is treatable with galactose - may correct glycosylation abnormalities Sources: Expert Review |
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| Cardiomyopathy_Paediatric v0.0 | ILK |
Zornitza Stark gene: ILK was added gene: ILK was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,Expert Review Red,South West GLH Mode of inheritance for gene: ILK was set to Unknown |
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