Pneumothorax - familial
Gene: FBLN5
FBLN5 (fibulin 5)
EnsemblGeneIds (GRCh38): ENSG00000140092
EnsemblGeneIds (GRCh37): ENSG00000140092
OMIM: 604580, Gene2Phenotype
FBLN5 is in 11 panels
EnsemblGeneIds (GRCh38): ENSG00000140092
EnsemblGeneIds (GRCh37): ENSG00000140092
OMIM: 604580, Gene2Phenotype
FBLN5 is in 11 panels
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Phenotypes
-
- Cutis laxa
- OMIM
- 604580
- Clinvar variants
- Variants in FBLN5
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Pneumothorax - familial
- Retinal disorders
- Rare genetic inflammatory skin disorders
- Hereditary neuropathy
- Thoracic aortic aneurysm or dissection (GMS)
- Familial pulmonary fibrosis
- Thoracic aortic aneurysm or dissection
- Intellectual disability
- Ehlers Danlos syndrome with a likely monogenic cause
- Fetal anomalies
- Hereditary neuropathy or pain disorder
History Filter Activity
9 Feb 2017, Gel status: 1
panel promoted to version 1
Olivia Niblock (Genomics England Curator)09/02/17 - Panel revised according to expert review, literature searches and clinical review.
18 Jan 2017, Gel status: 1
Gene classified by Genomics England curator
Olivia Niblock (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
8 Sep 2016, Gel status: 0
Approved Gene
Ellen McDonagh (Genomics England Curator)This proposed gene was validated and added to this panel
8 Sep 2016, Gel status: 0
Added New Source
Stefan Marciniak (University of Cambridge)FBLN5 was added to Familial Pneumothoraxpanel. Sources: Expert list
8 Sep 2016, Gel status: 0
Created
Stefan Marciniak (University of Cambridge)FBLN5 was created by [email protected]