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Severe Paediatric Disorders v0.12 | PDGFRB | Louise Daugherty reviewed gene: PDGFRB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.11 | PDGFRB | Louise Daugherty Publications for gene PDGFRB were updated from to 30847515 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.11 | PDGFRB | Louise Daugherty Mode of inheritance for gene PDGFRB was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.10 | PDGFRB | Louise Daugherty Added phenotypes Myofibromatosis, infantile, 1, 228550; Kosaki overgrowth syndrome, 616592; Premature aging syndrome, Penttinen type, 601812; Basal ganglia calcification, idiopathic, 4, 615007; Myeloproliferative disorder with eosinophilia, 131440 for gene: PDGFRB | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.9 | PDGFRB | Louise Daugherty Added phenotypes Myofibromatosis, infantile, 1, 228550; Kosaki overgrowth syndrome, 616592; Premature aging syndrome, Penttinen type, 601812; Basal ganglia calcification, idiopathic, 4, 615007; Myeloproliferative disorder with eosinophilia, 131440 for gene: PDGFRB | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.9 | PDGFRB | Louise Daugherty Added phenotypes Myofibromatosis, infantile, 1, 228550; Kosaki overgrowth syndrome, 616592; Premature aging syndrome, Penttinen type, 601812; Basal ganglia calcification, idiopathic, 4, 615007; Myeloproliferative disorder with eosinophilia, 131440 for gene: PDGFRB | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.8 | PDGFRB | Louise Daugherty Added phenotypes Kosaki overgrowth syndrome, 616592; Myeloproliferative disorder with eosinophilia, 131440; Basal ganglia calcification, idiopathic, 4, 615007; Myofibromatosis, infantile, 1, 228550; Premature aging syndrome, Penttinen type, 601812 for gene: PDGFRB | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.7 | PDGFRB | Louise Daugherty Source Next Generation Children Project was added to PDGFRB. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.5 | PDGFRB |
Louise Daugherty Source Expert Review Green was added to PDGFRB. Rating Changed from Red List (low evidence) to Green List (high evidence) |
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Severe Paediatric Disorders v0.4 | PDGFRB |
Louise Daugherty gene: PDGFRB was added gene: PDGFRB was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: PDGFRB was set to |