Hereditary neuropathy
Gene: FGF14EnsemblGeneIds (GRCh38): ENSG00000102466
EnsemblGeneIds (GRCh37): ENSG00000102466
OMIM: 601515, Gene2Phenotype
FGF14 is in 9 panels
5 reviews
Louise Daugherty (Genomics England Curator)
Review and rating submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.Created: 29 Apr 2019, 12:53 p.m.
Natalie Forrester (SWGLH - Bristol Genetics)
Unable to find any evidence of clear neuropathy association - more SCACreated: 29 Apr 2019, 12:30 p.m.
Phenotypes
Hereditary Neuropathies
Rita Horvath (Institute of Genetic Medicine, Newcastle University)
Alexander Rossor (UCL Institute of Neurology)
Spino cerebellar ataxiaCreated: 9 Dec 2015, 8:49 a.m.
Mary Reilly (Institute of Neurology)
Spino cerebellar ataxiaCreated: 8 Dec 2015, 3:05 p.m.
Details
- Sources
-
- NHS GMS
- South West GLH
- Emory Genetics Laboratory
- Phenotypes
-
- Hereditary Neuropathies
- OMIM
- 601515
- Clinvar variants
- Variants in FGF14
- Penetrance
- Complete
- Panels with this gene
History Filter Activity
Set Phenotypes
Louise Daugherty (Genomics England Curator)Added phenotypes Hereditary Neuropathies for gene: FGF14
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to FGF14.
Added New Source
Louise Daugherty (Genomics England Curator)Source South West GLH was added to FGF14.
Added New Source
Ellen McDonagh (Genomics England Curator)FGF14 was added to Charcot-Marie-Tooth diseasepanel. Sources: Emory Genetics Laboratory