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| Primary immunodeficiency or monogenic inflammatory bowel disease v2.560 | ANGPT1 | Arina Puzriakova Classified gene: ANGPT1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v2.560 | ANGPT1 | Arina Puzriakova Added comment: Comment on list classification: To date only a single family has been reported but with several lines of evidence such as multigenerational segregation and functional data that provides a plausible mechanism of disease. At least one more case is needed to corroborate this gene-disease association, and therefore Rating Amber with a watchlist tag in anticipation of further cases emerging. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v2.560 | ANGPT1 | Arina Puzriakova Gene: angpt1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v2.559 | ANGPT1 | Arina Puzriakova reviewed gene: ANGPT1: Rating: ; Mode of pathogenicity: None; Publications: 28601681, 30689269; Phenotypes: Angioedema, hereditary, 5, OMIM:61936; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v2.559 | ANGPT1 | Arina Puzriakova Publications for gene: ANGPT1 were set to 28601681 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v2.558 | ANGPT1 | Arina Puzriakova Tag watchlist tag was added to gene: ANGPT1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v2.558 | ANGPT1 | Arina Puzriakova Phenotypes for gene: ANGPT1 were changed from Hereditary Angioedema to Angioedema, hereditary, 5, OMIM:619361 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v2.526 | ANGPT1 |
Boaz Palterer gene: ANGPT1 was added gene: ANGPT1 was added to Primary immunodeficiency. Sources: Literature Mode of inheritance for gene: ANGPT1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: ANGPT1 were set to 28601681 Phenotypes for gene: ANGPT1 were set to Hereditary Angioedema Penetrance for gene: ANGPT1 were set to unknown Review for gene: ANGPT1 was set to AMBER Added comment: Sources: Literature |
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