Cerebral vascular malformations
Gene: PDCD10
CCM is a feature in affected individuals.
Created: 18 Nov 2024, 1:23 a.m. | Last Modified: 18 Nov 2024, 1:23 a.m.
Panel Version: 0.39
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Familial cerebral cavernous malformations MONDO:0031037
Publications
At least 7 families reported.Created: 13 Jan 2022, 7:16 a.m. | Last Modified: 13 Jan 2022, 7:16 a.m.
Panel Version: 0.10624
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Cerebral cavernous malformations 3 MIM#603285
Publications
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