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| BabyScreen+ newborn screening v0.1699 | GCM2 |
Zornitza Stark Tag treatable tag was added to gene: GCM2. Tag endocrine tag was added to gene: GCM2. |
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| BabyScreen+ newborn screening v0.1119 | GCM2 | Zornitza Stark Marked gene: GCM2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.1119 | GCM2 | Zornitza Stark Gene: gcm2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.1119 | GCM2 | Zornitza Stark Classified gene: GCM2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.1119 | GCM2 | Zornitza Stark Gene: gcm2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.1118 | GCM2 |
Zornitza Stark gene: GCM2 was added gene: GCM2 was added to gNBS. Sources: Expert Review Mode of inheritance for gene: GCM2 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Publications for gene: GCM2 were set to 27745835; 20190276; 34967908; 35038313 Phenotypes for gene: GCM2 were set to Hyperparathyroidism 4, OMIM #617343; Hypoparathyroidism, familial isolated 2, OMIM #618883 Review for gene: GCM2 was set to GREEN Added comment: Well established association. GoF for AD hyperparathyroidism, and LoF for AR hypoparathyroidism. Variable age of onset. Treatment for hypoPTH: calcium carbonate, calcitriol. HyperPTH: surgery? Non-genetic confirmatory tests: calcium, phosphate, parathyroid hormone Sources: Expert Review |
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