Cerebral vascular malformations
Gene: PDCD10Comment 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
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
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
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
Source Yorkshire and North East GLH was added to PDCD10.
Source NHS GMS was added to PDCD10.
Publications for gene: PDCD10 were set to 20301470, 15543491
Publications for PDCD10 were set to 20301470, 15543491
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
Promoted to version 1 on the 19th December 2016
This gene has been classified as Green List (High Evidence).
PDCD10 was added to Cerebrovascular disorderspanel. Source: Illumina TruGenome Clinical Sequencing Services
PDCD10 was added to Cerebrovascular disorderspanel. Source: UKGTN
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
PDCD10 was added to Cerebrovascular disorderspanel. Sources: Radboud University Medical Center, Nijmegen
PDCD10 was created by ellenmcdonagh