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| Primary immunodeficiency or monogenic inflammatory bowel disease v2.536 | TGFBR1 | Arina Puzriakova reviewed gene: TGFBR1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v2.535 | TGFBR1 |
Arina Puzriakova Source Expert Review Green was added to TGFBR1. Added phenotypes Loeys-Dietz syndrome 1, OMIM:609192 for gene: TGFBR1 Publications for gene: TGFBR1 were updated from 32086639; 32048120; 29392890 to 32048120; 29392890; 32086639; 24486179 Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| Primary immunodeficiency or monogenic inflammatory bowel disease v2.36 | TGFBR1 | Louise Daugherty reviewed gene: TGFBR1: Rating: AMBER; Mode of pathogenicity: ; Publications: 29392890; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v2.35 | TGFBR1 | Louise Daugherty Publications for gene TGFBR1 were updated from 32048120; 32086639 to 32086639; 32048120; 29392890 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v2.13 | TGFBR1 |
Louise Daugherty gene: TGFBR1 was added gene: TGFBR1 was added to Primary immunodeficiency. Sources: IUIS Classification December 2019 Mode of inheritance for gene: TGFBR1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: TGFBR1 were set to 32048120; 32086639 Phenotypes for gene: TGFBR1 were set to Recurrent respiratory infectons, eczema, food allergies, hyperextensible joints, scoliosis, retention of primary teeths, aortic anuerysms; Loeys Dietz syndrome due to TGFBR1 deficiency; Loeys-Dietz syndrome 1, 609192; Combined immunodeficiencies with associated or syndromic features |
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