Cerebral vascular malformations
Gene: PDCD10

PDCD10 (programmed cell death 10)
EnsemblGeneIds (GRCh38): ENSG00000114209
EnsemblGeneIds (GRCh37): ENSG00000114209
OMIM: 609118, Gene2Phenotype
PDCD10 is in 6 panels

1 review

Sangavi Sivagnanasundram (Melbourne Health)

Green List (high evidence)

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

20301470

Created: 18 Nov 2024, 1:23 a.m.
Last Modified: 18 Nov 2024, 1:23 a.m.
Panel version: 0.39

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Sources

Genomics England PanelApp
Expert Review Green

Phenotypes

Cerebral Cavernous Malformations
Cerebral cavernous malformations 3
Cerebral cavernous malformations 3, 603285
Cerebral Cavernous Malformation
Familial Cerebral Cavernous Malformation

OMIM

609118

Clinvar variants

Variants in PDCD10

Penetrance

None

Publications

Mode of Pathogenicity

Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments

Panels with this gene

History Filter Activity

18 May 2020, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set mode of pathogenicity

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

Cerebral vascular malformations Gene: PDCD10