Vascular Malformations_Germline
Gene: PDCD10
PDCD10 (programmed cell death 10)
EnsemblGeneIds (GRCh38): ENSG00000114209
EnsemblGeneIds (GRCh37): ENSG00000114209
OMIM: 609118, Gene2Phenotype
PDCD10 is in 6 panels
EnsemblGeneIds (GRCh38): ENSG00000114209
EnsemblGeneIds (GRCh37): ENSG00000114209
OMIM: 609118, Gene2Phenotype
PDCD10 is in 6 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Better suited to the cerebral vascular malformations panel.Created: 2 Jul 2020, 5:42 a.m. | Last Modified: 2 Jul 2020, 5:42 a.m.
Panel Version: 0.105
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Cerebral cavernous malformations 3, MIM# 603285
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Amber
- Royal Melbourne Hospital
- Phenotypes
-
- Cerebral cavernous malformations 3
- OMIM
- 609118
- Clinvar variants
- Variants in PDCD10
- Penetrance
- None
- Panels with this gene
History Filter Activity
2 Jul 2020, Gel status: 2
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: pdcd10 has been classified as Amber List (Moderate Evidence).
2 Jul 2020, Gel status: 2
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: pdcd10 has been classified as Amber List (Moderate Evidence).
30 Dec 2019, Gel status: 3
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: PDCD10 was added gene: PDCD10 was added to Vascular Malformations_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: PDCD10 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: PDCD10 were set to Cerebral cavernous malformations 3