Cerebral vascular malformations
Gene: PDCD10EnsemblGeneIds (GRCh38): ENSG00000114209
EnsemblGeneIds (GRCh37): ENSG00000114209
OMIM: 609118, Gene2Phenotype
PDCD10 is in 4 panels
3 reviews
Ivone Leong (Genomics England Curator)
Comment on phenotypes: Previous phenotypes:
Cerebral cavernous malformations 3, 603285;Cerebral Cavernous Malformation;Cerebral cavernous malformations 3;Cerebral Cavernous Malformations;Familial Cerebral Cavernous MalformationCreated: 25 Mar 2021, 2:07 p.m. | Last Modified: 25 Mar 2021, 2:07 p.m.
Panel Version: 2.16
Louise Daugherty (Genomics England Curator)
Combined reviews with Ian Berry (YNELGH), Vijeya Ganesan (Clinical expert - GOSH / ICH) & GEL clinical team (Richard Scott / Helen Brittain): relevant phenotype and sufficient evidence for a green ratingCreated: 29 Nov 2019, 6:58 p.m. | Last Modified: 29 Nov 2019, 6:58 p.m.
Panel Version: 1.67
Alice Gardham (Genomics England)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Cerebral cavernous malformations 3 603285
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
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Yorkshire and North East GLH
- NHS GMS
- Expert Review Green
- Illumina TruGenome Clinical Sequencing Services
- UKGTN
- Emory Genetics Laboratory
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Cerebral cavernous malformations 3, OMIM:603285
- OMIM
- 609118
- Clinvar variants
- Variants in PDCD10
- Penetrance
- Complete
- 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
Set Phenotypes
Ivone Leong (Genomics England Curator)Phenotypes for gene: PDCD10 were changed from Cerebral cavernous malformations 3, 603285; Cerebral Cavernous Malformation; Cerebral cavernous malformations 3; Cerebral Cavernous Malformations; Familial Cerebral Cavernous Malformation to Cerebral cavernous malformations 3, OMIM:603285
Added New Source
Louise Daugherty (Genomics England Curator)Source Yorkshire and North East GLH was added to PDCD10.
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to PDCD10.
Set publications
Louise Daugherty (Genomics England Curator)Publications for gene: PDCD10 were set to 20301470, 15543491
Set publications
Ellen McDonagh (Genomics England Curator)Publications for PDCD10 were set to 20301470, 15543491
Set mode of pathogenicity
Ellen McDonagh (Genomics England Curator)Mode of pathogenicity for PDCD10 was changed to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
panel promoted to version 1
Alice Gardham (Genomics England)Promoted to version 1 on the 19th December 2016
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Green List (High Evidence).
Added New Source
Ellen McDonagh (Genomics England Curator)PDCD10 was added to Cerebrovascular disorderspanel. Source: Illumina TruGenome Clinical Sequencing Services
Added New Source
Ellen McDonagh (Genomics England Curator)PDCD10 was added to Cerebrovascular disorderspanel. Source: UKGTN
Set Mode of Inheritance, Added New Source
Ellen McDonagh (Genomics England Curator)PDCD10 was added to Cerebrovascular disorderspanel. Source: Emory Genetics Laboratory Model of inheritance for gene PDCD10 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added New Source
Ellen McDonagh (Genomics England Curator)PDCD10 was added to Cerebrovascular disorderspanel. Sources: Radboud University Medical Center, Nijmegen
Created
Ellen McDonagh (Genomics England Curator)PDCD10 was created by ellenmcdonagh