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  3. FGF14
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Ataxia - adult onset

Gene: FGF14

Green List (high evidence)
FGF14 (fibroblast growth factor 14)
EnsemblGeneIds (GRCh38): ENSG00000102466
EnsemblGeneIds (GRCh37): ENSG00000102466
OMIM: 601515, Gene2Phenotype
FGF14 is in 7 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

At least 8 unrelated families with episodic ataxia as a feature of the condition
Created: 30 Jun 2020, 12:47 a.m. | Last Modified: 30 Jun 2020, 12:47 a.m.
Panel Version: 0.9

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Episodic ataxia; Paroxysmal dyskinesia

Publications

Created: 30 Jun 2020, 12:47 a.m.
Last Modified: 30 Jun 2020, 12:47 a.m.
Panel version: Imported from Episodic Ataxia panel version 0.9

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
  • Royal Melbourne Hospital
  • Expert Review Green
Phenotypes
  • Spinocerebellar ataxia type 27, 609307
  • Spinocerebellar ataxia 27
OMIM
601515
Clinvar variants
Variants in FGF14
Penetrance
None
Panels with this gene

History Filter Activity

19 Dec 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

gene: FGF14 was added gene: FGF14 was added to Ataxia - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital 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 type 27, 609307; Spinocerebellar ataxia 27