Hereditary ataxia with onset in adulthood
Gene: FGF14
In Oxford and Sheffield panels. 9 DM in HGMD.Created: 27 Apr 2019, 7:39 p.m.
Review and rating submitted by James Polke (Neurogenetics Laboratory, Institute of Neurology, London) on behalf of London North GLH for GMS Neurology specialist test group
Created: 27 Apr 2019, 8:55 p.m.
Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group.Created: 15 Apr 2019, 10:21 a.m.
Good number of reports in the literature and positives within our patient cohortCreated: 15 Apr 2019, 10:06 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Spinocerebellar ataxia type 27, 609307
Variants in this GENE are reported as part of current diagnostic practice
Source London North GMS was added to FGF14.
Added phenotypes Spinocerebellar ataxia type 27, 609307 for gene: FGF14
Source NHS GMS was added to FGF14.
Source Wessex and West Midlands GLH was added to FGF14.
Checked panel against panel constituents. Ready to promote to version 1.
gene: FGF14 was added gene: FGF14 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green Mode of inheritance for gene: FGF14 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: FGF14 were set to Spinocerebellar ataxia 27