Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
DDG2P v3.12 | TEK | Achchuthan Shanmugasundram reviewed gene: TEK: Rating: GREEN; Mode of pathogenicity: Other; Publications: 7833915, 10369874, 19888299; Phenotypes: VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL, OMIM:600195; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v3.11 | TEK |
Achchuthan Shanmugasundram Mode of pathogenicity for gene TEK was changed from Other - please provide details in the comments to Other Publications for gene: TEK were updated from 19888299; 7833915; 10369874 to 7833915; 10369874; 19888299 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v0.2 | TEK | Rebecca Foulger reviewed gene: TEK: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v0.1 | TEK |
Rebecca Foulger gene: TEK was added gene: TEK was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: TEK was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: TEK were set to 19888299; 7833915; 10369874 Phenotypes for gene: TEK were set to VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL 600195 Mode of pathogenicity for gene: TEK was set to Other - please provide details in the comments |