Activity
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9 actions
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| Fetal anomalies v6.152 | TEK | Arina Puzriakova Added phenotypes Venous malformations, multiple cutaneous and mucosal, OMIM:600195 for gene: TEK | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v6.148 | TEK | Arina Puzriakova commented on gene: TEK | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v6.147 | TEK | Sarah Graham reviewed gene: TEK: Rating: AMBER; Mode of pathogenicity: ; Publications: 29555671, 19888299; Phenotypes: Venous malformations, multiple cutaneous and mucosal, OMIM:600195; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v6.144 | TEK |
Arina Puzriakova Source Expert Review Amber was added to TEK. Rating Changed from Red List (low evidence) to Amber List (moderate evidence) |
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| Fetal anomalies v0.229 | TEK |
Rebecca Foulger Source Expert Review Red was added to TEK. Rating Changed from Green List (high evidence) to Red List (low evidence) |
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| Fetal anomalies v0.228 | TEK | Rebecca Foulger edited their review of gene: TEK: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted TEK gene rating from Green to Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | TEK | Rebecca Foulger commented on gene: TEK: DDG2P rating in original PAGE list: Confirmed for VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3 | TEK | Rebecca Foulger reviewed gene: TEK: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1 | TEK |
Rebecca Foulger gene: TEK was added gene: TEK was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: TEK was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: TEK were set to VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL |
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