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| DDG2P v3.12 | TGFBR1 | Achchuthan Shanmugasundram reviewed gene: TGFBR1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 16791849, 16928994, 18070134, 16596670, 15731757; Phenotypes: LOEYS-DIETZ SYNDROME, OMIM:609192; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | TGFBR1 |
Achchuthan Shanmugasundram Mode of pathogenicity for gene TGFBR1 was changed from Other - please provide details in the comments to Other Publications for gene: TGFBR1 were updated from 16791849; 16928994; 18070134 to 16791849; 16928994; 18070134; 16596670; 15731757 |
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| DDG2P v1.102 | TGFBR1 | Rebecca Foulger Phenotypes for gene: TGFBR1 were changed from LOEYS-DIETZ SYNDROME TYPE 2A 608967; LOEYS-DIETZ SYNDROME TYPE 1A 609192; AORTIC ANEURYSM FAMILIAL THORACIC TYPE 5 608967 to LOEYS-DIETZ SYNDROME TYPE 2A 608967; LOEYS-DIETZ SYNDROME TYPE 1A 609192; AORTIC ANEURYSM FAMILIAL THORACIC TYPE 5 609192 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | TGFBR1 | Rebecca Foulger reviewed gene: TGFBR1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | TGFBR1 |
Rebecca Foulger Added phenotypes AORTIC ANEURYSM FAMILIAL THORACIC TYPE 5 608967 for gene: TGFBR1 Publications for gene TGFBR1 were changed from 16596670; 15731757 to 16791849; 16928994; 18070134 |
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| DDG2P v0.1 | TGFBR1 |
Rebecca Foulger Added phenotypes LOEYS-DIETZ SYNDROME TYPE 1A 609192 for gene: TGFBR1 Publications for gene TGFBR1 were changed from 16791849; 16928994; 18070134 to 16596670; 15731757 |
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| DDG2P v0.1 | TGFBR1 |
Rebecca Foulger gene: TGFBR1 was added gene: TGFBR1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: TGFBR1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: TGFBR1 were set to 16791849; 16928994; 18070134 Phenotypes for gene: TGFBR1 were set to LOEYS-DIETZ SYNDROME TYPE 2A 608967 Mode of pathogenicity for gene: TGFBR1 was set to Other - please provide details in the comments |
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