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| DDG2P v3.28 | TGFB2 | Achchuthan Shanmugasundram Phenotypes for gene: TGFB2 were changed from LOEYS-DIETZ SYNDROME, TYPE 4, OMIM:614816 to LOEYS-DIETZ SYNDROME, TYPE 4, OMIM:614816 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.28 | TGFB2 | Achchuthan Shanmugasundram Phenotypes for gene: TGFB2 were changed from LOEYS-DIETZ SYNDROME, TYPE 4, OMIM:614816 to LOEYS-DIETZ SYNDROME, TYPE 4, OMIM:614816 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.28 | TGFB2 | Achchuthan Shanmugasundram Phenotypes for gene: TGFB2 were changed from LOEYS-DIETZ SYNDROME, TYPE 4 614816 to LOEYS-DIETZ SYNDROME, TYPE 4, OMIM:614816 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.27 | TGFB2 | Achchuthan Shanmugasundram changed review comment from: The DDG2P confidence category for the disease LOEYS-DIETZ SYNDROME, TYPE 4, OMIM:614816 is definitive. The allelic requirement, mutation consequence and cross cutting modifier are monoallelic_autosomal, absent gene product and potential IF respectively (PMIDs: ).; to: The DDG2P confidence category for the disease LOEYS-DIETZ SYNDROME, TYPE 4, OMIM:614816 is definitive. The allelic requirement, mutation consequence and cross cutting modifier are monoallelic_autosomal, absent gene product and potential IF respectively. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | TGFB2 | Achchuthan Shanmugasundram reviewed gene: TGFB2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: LOEYS-DIETZ SYNDROME, TYPE 4, OMIM:614816; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.131 | TGFB2 | Rebecca Foulger commented on gene: TGFB2: September 2019: G2P confidence terminology was updated: DD-G2P rating is now 'both RD and IF' for LOEYS-DIETZ SYNDROME, TYPE 4. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.77 | TGFB2 |
Rebecca Foulger Source Expert Review Green was added to TGFB2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v1.76 | TGFB2 | Rebecca Foulger commented on gene: TGFB2: Changed rating from Amber to Green: agreed by the Genomics England clinical team that the DDG2P Disease confidence of 'both DD and IF' should be represented by a Green rating in PanelApp. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.95 | TGFB2 | Rebecca Foulger commented on gene: TGFB2: Changed rating to Amber to reflect DDG2P Disease confidence of 'DD and IF' for LOEYS-DIETZ SYNDROME, TYPE 4. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.94 | TGFB2 |
Rebecca Foulger Source Expert Review Amber was added to TGFB2. Rating Changed from Green List (high evidence) to Amber List (moderate evidence) |
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| DDG2P v0.2 | TGFB2 | Rebecca Foulger reviewed gene: TGFB2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | TGFB2 |
Rebecca Foulger gene: TGFB2 was added gene: TGFB2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: TGFB2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: TGFB2 were set to LOEYS-DIETZ SYNDROME, TYPE 4 614816 |
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