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Severe Paediatric Disorders v0.17 | GNAS | Louise Daugherty Mode of inheritance for gene GNAS was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.12 | GNAS | Louise Daugherty reviewed gene: GNAS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.11 | GNAS | Louise Daugherty Publications for gene GNAS were updated from to 30847515 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.10 | GNAS | Louise Daugherty Added phenotypes Pseudopseudohypoparathyroidism, 612463; Pseudohypoparathyroidism Ia, 103580; Osseous heteroplasia, progressive, 166350; Pseudohypoparathyroidism Ic, 612462; ACTH-independent macronodular adrenal hyperplasia, 219080; Pseudohypoparathyroidism Ib, 603233 for gene: GNAS | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.9 | GNAS | Louise Daugherty Added phenotypes Pseudopseudohypoparathyroidism, 612463; Pseudohypoparathyroidism Ia, 103580; Osseous heteroplasia, progressive, 166350; Pseudohypoparathyroidism Ic, 612462; ACTH-independent macronodular adrenal hyperplasia, 219080; Pseudohypoparathyroidism Ib, 603233 for gene: GNAS | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.9 | GNAS | Louise Daugherty Added phenotypes Pseudopseudohypoparathyroidism, 612463; Pseudohypoparathyroidism Ia, 103580; Osseous heteroplasia, progressive, 166350; Pseudohypoparathyroidism Ic, 612462; ACTH-independent macronodular adrenal hyperplasia, 219080; Pseudohypoparathyroidism Ib, 603233 for gene: GNAS | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.8 | GNAS | Louise Daugherty Added phenotypes Pseudohypoparathyroidism Ib, 603233; Osseous heteroplasia, progressive, 166350; Pseudohypoparathyroidism Ia, 103580; ACTH-independent macronodular adrenal hyperplasia, 219080; Pseudohypoparathyroidism Ic, 612462; Pseudopseudohypoparathyroidism, 612463 for gene: GNAS | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.7 | GNAS | Louise Daugherty Source Next Generation Children Project was added to GNAS. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.5 | GNAS |
Louise Daugherty Source Expert Review Green was added to GNAS. Rating Changed from Red List (low evidence) to Green List (high evidence) |
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Severe Paediatric Disorders v0.4 | GNAS |
Louise Daugherty gene: GNAS was added gene: GNAS was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: GNAS was set to |