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| Severe Paediatric Disorders v0.12 | PRKAR1A | Louise Daugherty reviewed gene: PRKAR1A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.11 | PRKAR1A | Louise Daugherty Publications for gene PRKAR1A were updated from to 30847515 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.11 | PRKAR1A | Louise Daugherty Mode of inheritance for gene PRKAR1A was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.10 | PRKAR1A | Louise Daugherty Added phenotypes Pigmented nodular adrenocortical disease, primary, 1, 610489; Carney complex, type 1, 160980; Acrodysostosis 1, with or without hormone resistance, 101800; Myxoma, intracardiac, 255960 for gene: PRKAR1A | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.9 | PRKAR1A | Louise Daugherty Added phenotypes Pigmented nodular adrenocortical disease, primary, 1, 610489; Carney complex, type 1, 160980; Acrodysostosis 1, with or without hormone resistance, 101800; Myxoma, intracardiac, 255960 for gene: PRKAR1A | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.9 | PRKAR1A | Louise Daugherty Added phenotypes Pigmented nodular adrenocortical disease, primary, 1, 610489; Carney complex, type 1, 160980; Acrodysostosis 1, with or without hormone resistance, 101800; Myxoma, intracardiac, 255960 for gene: PRKAR1A | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.8 | PRKAR1A | Louise Daugherty Added phenotypes Acrodysostosis 1, with or without hormone resistance, 101800; Pigmented nodular adrenocortical disease, primary, 1, 610489; Carney complex, type 1, 160980; Myxoma, intracardiac, 255960 for gene: PRKAR1A | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.7 | PRKAR1A | Louise Daugherty Source Next Generation Children Project was added to PRKAR1A. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.5 | PRKAR1A |
Louise Daugherty Source Expert Review Green was added to PRKAR1A. Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| Severe Paediatric Disorders v0.4 | PRKAR1A |
Louise Daugherty gene: PRKAR1A was added gene: PRKAR1A was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: PRKAR1A was set to |
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