Pulmonary Arterial Hypertension
Gene: FBLN2
FBLN2 (fibulin 2)
EnsemblGeneIds (GRCh38): ENSG00000163520
EnsemblGeneIds (GRCh37): ENSG00000163520
OMIM: 135821, Gene2Phenotype
FBLN2 is in 2 panels
EnsemblGeneIds (GRCh38): ENSG00000163520
EnsemblGeneIds (GRCh37): ENSG00000163520
OMIM: 135821, Gene2Phenotype
FBLN2 is in 2 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
LIMITED by ClinGen. Out of a cohort of 1647 idiopathic PAH cases, 3 rare predicted deleterious missense variants were identified in 6 unrelated individuals with one variant recurrent in four individuals. Gene-disease association also supported by tissue expression data.
Sources: Expert listCreated: 8 Aug 2023, 5:56 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Pulmonary arterial hypertension MONDO:0015924, FBLN2-related
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Red
- Expert list
- Phenotypes
-
- Pulmonary arterial hypertension MONDO:0015924, FBLN2-related
- OMIM
- 135821
- Clinvar variants
- Variants in FBLN2
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
8 Aug 2023, Gel status: 1
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: fbln2 has been classified as Red List (Low Evidence).
8 Aug 2023, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: FBLN2 was added gene: FBLN2 was added to Pulmonary Arterial Hypertension. Sources: Expert list Mode of inheritance for gene: FBLN2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: FBLN2 were set to 33971972 Phenotypes for gene: FBLN2 were set to Pulmonary arterial hypertension MONDO:0015924, FBLN2-related Review for gene: FBLN2 was set to RED