Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
DDG2P v3.12 | TGFB1 | Achchuthan Shanmugasundram reviewed gene: TGFB1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 11062463, 15103729, 10973241; Phenotypes: CAMURATI-ENGELMANN DISEASE, OMIM:131300; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v3.11 | TGFB1 |
Achchuthan Shanmugasundram Mode of pathogenicity for gene TGFB1 was changed from Other - please provide details in the comments to Other Publications for gene: TGFB1 were updated from 10973241; 15103729; 11062463 to 11062463; 15103729; 10973241 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v2.82 | TGFB1 | Arina Puzriakova Phenotypes for gene: TGFB1 were changed from CAMURATI-ENGELMANN DISEASE 131300 to Camurati-Engelmann disease, OMIM:131300 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v0.2 | TGFB1 | Rebecca Foulger reviewed gene: TGFB1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v0.1 | TGFB1 |
Rebecca Foulger gene: TGFB1 was added gene: TGFB1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: TGFB1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: TGFB1 were set to 10973241; 15103729; 11062463 Phenotypes for gene: TGFB1 were set to CAMURATI-ENGELMANN DISEASE 131300 Mode of pathogenicity for gene: TGFB1 was set to Other - please provide details in the comments |