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| Cerebral vascular malformations v0.39 | PDCD10 |
Sangavi Sivagnanasundram changed review comment from: CCM is a feature in affected individuals; to: CCM is a feature in affected individuals. |
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| Cerebral vascular malformations v0.39 | PDCD10 | Sangavi Sivagnanasundram reviewed gene: PDCD10: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301470; Phenotypes: Familial cerebral cavernous malformations MONDO:0031037; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral vascular malformations v0.0 | PDCD10 |
Zornitza Stark gene: PDCD10 was added gene: PDCD10 was added to Cerebral vascular malformations. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: PDCD10 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: PDCD10 were set to 15543491; 20301470 Phenotypes for gene: PDCD10 were set to Cerebral Cavernous Malformations; Cerebral cavernous malformations 3; Cerebral cavernous malformations 3, 603285; Cerebral Cavernous Malformation; Familial Cerebral Cavernous Malformation Mode of pathogenicity for gene: PDCD10 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments |
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