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| Ductal plate malformation v1.22 | TULP3 | Achchuthan Shanmugasundram Classified gene: TULP3 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ductal plate malformation v1.22 | TULP3 | Achchuthan Shanmugasundram Gene: tulp3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ductal plate malformation v1.21 | TULP3 | Achchuthan Shanmugasundram Publications for gene: TULP3 were set to 36460032; 36276950; 35397207 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ductal plate malformation v1.20 | TULP3 | Achchuthan Shanmugasundram Phenotypes for gene: TULP3 were changed from cystic kidney disease; ductal plate malformation; congentital hepatic fibrosis; cardiomyopathy to Hepatorenocardiac degenerative fibrosis, OMIM:619902 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ductal plate malformation v1.19 | TULP3 | Achchuthan Shanmugasundram reviewed gene: TULP3: Rating: GREEN; Mode of pathogenicity: None; Publications: 35397207, 36276950, 36460032; Phenotypes: Hepatorenocardiac degenerative fibrosis, OMIM:619902; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ductal plate malformation v1.19 | TULP3 |
John Sayer gene: TULP3 was added gene: TULP3 was added to Ductal plate malformation. Sources: Expert list Mode of inheritance for gene: TULP3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TULP3 were set to 36460032; 36276950; 35397207 Phenotypes for gene: TULP3 were set to cystic kidney disease; ductal plate malformation; congentital hepatic fibrosis; cardiomyopathy Penetrance for gene: TULP3 were set to Complete Review for gene: TULP3 was set to GREEN Added comment: Congenital hepatic fibrosis and ductal plate malformation is a common phenotype See OMIM 604730 Sources: Expert list |
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