Hereditary neuropathy or pain disorder
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
-
- Expert Review Green
- Expert Review
- London North GLH
- NHS GMS
- NHS GMS
- London North GLH
- 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
- None
- Panels with this gene
-
- Thoracic aortic aneurysm or dissection (GMS)
- Hereditary neuropathy or pain disorder
- Familial pulmonary fibrosis
- Thoracic aortic aneurysm or dissection
- Intellectual disability
- Retinal disorders
- Hereditary neuropathy
- Ehlers Danlos syndrome with a likely monogenic cause
- Rare genetic inflammatory skin disorders
- Pneumothorax - familial
- Fetal anomalies
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
Created, Added New Source, Set mode of inheritance
Ellen McDonagh (Genomics England Curator)gene: FBLN5 was added gene: FBLN5 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH,Expert Review,Expert Review Green Mode of inheritance for gene: FBLN5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted