Retinal disorders
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
1 review
Gavin Arno (UCL Institute of Ophthalmology/Moorfields Eye Hospital)
AMD - justified to keep>?Created: 30 Aug 2019, 2:12 p.m. | Last Modified: 30 Aug 2019, 2:12 p.m.
Panel Version: 1.159
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- NHS GMS
- Expert Review Red
- Phenotypes
-
- Macular degeneration, age-related, 3, OMIM:608895
- Neuropathy, hereditary, with or without age-related macular degeneration, OMIM:608895
- OMIM
- 604580
- Clinvar variants
- Variants in FBLN5
- Penetrance
- Complete
- 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
25 Oct 2022, Gel status: 1
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: FBLN5 were changed from Macular Degeneration to Macular degeneration, age-related, 3, OMIM:608895; Neuropathy, hereditary, with or without age-related macular degeneration, OMIM:608895
3 Apr 2019, Gel status: 1
Added New Source
Ivone Leong (Genomics England Curator)Source NHS GMS was added to FBLN5.
9 Mar 2016, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)FBLN5 was added to Posterior segment abnormalitiespanel. Sources: Expert Review Red
9 Mar 2016, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)FBLN5 was created by ellenmcdonagh