Pulmonary arterial hypertension
Gene: CBLN2
CBLN2 (cerebellin 2 precursor)
EnsemblGeneIds (GRCh38): ENSG00000141668
EnsemblGeneIds (GRCh37): ENSG00000141668
OMIM: 600433, Gene2Phenotype
CBLN2 is in 1 panel
EnsemblGeneIds (GRCh38): ENSG00000141668
EnsemblGeneIds (GRCh37): ENSG00000141668
OMIM: 600433, Gene2Phenotype
CBLN2 is in 1 panel
1 review
Louise Daugherty (Genomics England Curator)
In PMID: 23502781 (2013) a novel gene related to PAH has been described in a genome-wide association study (GWAS) based on case-control studies for idiopathic and familial PAH (without BMPR2 mutations), including a total of 625 cases and 1,525 healthy individuals. They detected a significant association at the CBLN2 locus mapping to 18q22.3, with the risk allele conferring an odds ratio for PAH of 1.97 (1.59-2.45; P = 7.47 × 10(-10)). CBLN2 is expressed in the lung, and its expression is higher in explanted lungs from individuals with PAH and in endothelial cells cultured from explanted PAH lungs.Created: 19 Jun 2017, 12:40 p.m.
Mode of inheritance
Unknown
Publications
Details
- Mode of Inheritance
- Unknown
- Sources
-
- Literature
- OMIM
- 600433
- Clinvar variants
- Variants in CBLN2
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
22 Jun 2017, Gel status: 0
panel promoted to version 1
Louise Daugherty (Genomics England Curator)Panel reviews were assessed, and panel was revised according to reviews and further in-house curation.
19 Jun 2017, Gel status: 0
Created
Louise Daugherty (Genomics England Curator)CBLN2 was created by LouiseD
19 Jun 2017, Gel status: 0
Added New Source
Louise Daugherty (Genomics England Curator)CBLN2 was added to Pulmonary arterial hypertensionpanel. Sources: Literature