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| Cardiomyopathy_Paediatric v0.142 | PGM1 | Zornitza Stark Tag treatable tag was added to gene: PGM1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiomyopathy_Paediatric v0.16 | PGM1 | Zornitza Stark Marked gene: PGM1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiomyopathy_Paediatric v0.16 | PGM1 | Zornitza Stark Added comment: Comment when marking as ready: Severe cardiomyopathy can be a feature. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiomyopathy_Paediatric v0.16 | PGM1 | Zornitza Stark Gene: pgm1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiomyopathy_Paediatric v0.16 | PGM1 | Zornitza Stark Phenotypes for gene: PGM1 were changed from Dilated Cardiomyopathy; Cleft Palate; Bifid Uvula; Hypothyroidism; Hepatopathy; Elevated transaminases; Hypogonadotropic hypogonadism; Hypoglycaemia; Rhabdomyolysis; Skeletal myopathy; Malignant hypothermia; Abnormal Coagulation to Congenital disorder of glycosylation, type It, MIM# 614921; Dilated cardiomyopathy | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiomyopathy_Paediatric v0.15 | PGM1 | Zornitza Stark Publications for gene: PGM1 were set to PMID: 31563034; PMID: 26303607PMID: 24878975; PMID: 27206562; PMID: 29858906; PMID: 32681750 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiomyopathy_Paediatric v0.14 | PGM1 | Zornitza Stark Classified gene: PGM1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiomyopathy_Paediatric v0.14 | PGM1 | Zornitza Stark Gene: pgm1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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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