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| Skeletal dysplasia v1.54 | PDGFRB | chirag patel Phenotypes for gene: PDGFRB were changed from Basal ganglia calcification, idiopathic, 4, MIM# 615007; Kosaki overgrowth syndrome, MIM# 616592; Myeloproliferative disorder with eosinophilia, MIM# 131440; Myofibromatosis, infantile, 1, MIM# 228550; Premature ageing syndrome, Penttinen type, MIM# 601812; Ocular pterygium-digital keloid dysplasia syndrome, MIM# 621091 to Premature aging syndrome, Penttinen type, 601812 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.53 | PDGFRB | chirag patel Marked gene: PDGFRB as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.53 | PDGFRB | chirag patel Gene: pdgfrb has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.53 | PDGFRB | chirag patel Publications for gene: PDGFRB were set to 30573803; 26279204; 33450762 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.52 | PDGFRB | chirag patel reviewed gene: PDGFRB: Rating: GREEN; Mode of pathogenicity: Other; Publications: 30573803, 26279204, 40248971, 9056558; Phenotypes: Premature aging syndrome, Penttinen type, 601812; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.52 | chirag patel Copied gene PDGFRB from panel Mendeliome | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.52 | PDGFRB |
chirag patel gene: PDGFRB was added gene: PDGFRB was added to Skeletal dysplasia. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: PDGFRB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PDGFRB were set to 30573803; 26279204; 33450762 Phenotypes for gene: PDGFRB were set to Basal ganglia calcification, idiopathic, 4, MIM# 615007; Kosaki overgrowth syndrome, MIM# 616592; Myeloproliferative disorder with eosinophilia, MIM# 131440; Myofibromatosis, infantile, 1, MIM# 228550; Premature ageing syndrome, Penttinen type, MIM# 601812; Ocular pterygium-digital keloid dysplasia syndrome, MIM# 621091 Mode of pathogenicity for gene: PDGFRB was set to Other |
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