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| Cerebral vascular malformations v0.39 | SMAD4 | Sangavi Sivagnanasundram reviewed gene: SMAD4: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301525; Phenotypes: Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome MONDO:0008278; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral vascular malformations v0.0 | SMAD4 |
Zornitza Stark gene: SMAD4 was added gene: SMAD4 was added to Cerebral vascular malformations. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: SMAD4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: SMAD4 were set to Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome 175050 |
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