Hereditary neuropathy
Gene: FBLN5EnsemblGeneIds (GRCh38): ENSG00000140092
EnsemblGeneIds (GRCh37): ENSG00000140092
OMIM: 604580, Gene2Phenotype
FBLN5 is in 11 panels
5 reviews
Louise Daugherty (Genomics England Curator)
Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.Created: 9 May 2019, 5 p.m.
James Polke (Neurogenetics Laboratory, Institute of Neurology, London)
Alexander Rossor (UCL Institute of Neurology)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mary Reilly (Institute of Neurology)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Ellen McDonagh (Genomics England Curator)
Comment on list classification: Added by a reviewer and rated green by a second reviewer. More than 3 family reports, and 3 different variants reported in OMIM for association with neuropathy, hereditary, with or without macular degeneration.Created: 6 May 2016, 8:37 a.m.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- NHS GMS
- London North GLH
- Expert Review Green
- Phenotypes
-
- Charcot-Marie-Tooth disease, demyelinating, type 1H, OMIM:619764
- 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
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: FBLN5 were changed from to Charcot-Marie-Tooth disease, demyelinating, type 1H, OMIM:619764; Neuropathy, hereditary, with or without age-related macular degeneration, OMIM:608895
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to FBLN5.
Added New Source, Status Update
Louise Daugherty (Genomics England Curator)Source London North GLH was added to FBLN5. Rating Changed from Green List (high evidence) to Green List (high evidence)
Gene classified by Genomics England curator
Richard Scott (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Added New Source
Mary Reilly (Institute of Neurology)FBLN5 was added to Charcot-Marie-Tooth diseasepanel. Sources: Expert Review
Created
Mary Reilly (Institute of Neurology)FBLN5 was created by MReilly-925