Childhood onset dystonia, chorea or related movement disorder
Gene: FGF14

FGF14 (fibroblast growth factor 14)
EnsemblGeneIds (GRCh38): ENSG00000102466
EnsemblGeneIds (GRCh37): ENSG00000102466
OMIM: 601515, Gene2Phenotype
FGF14 is in 9 panels

1 review

James Polke (Neurogenetics Laboratory, Institute of Neurology, London)

I don't know

?ataxia included
Created: 9 Jul 2019, 4:24 p.m. | Last Modified: 9 Jul 2019, 4:24 p.m.

Panel Version: 0.9

Created: 9 Jul 2019, 4:24 p.m.
Last Modified: 9 Jul 2019, 4:24 p.m.
Panel version: Imported from GMS Neurology specialist test group-Movement disorders - childhood onset-LNGLH_v2 panel version 0.9

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Sources

London North GLH
Expert Review Amber

Phenotypes

Spinocerebellar ataxia 27, 609307

OMIM

601515

Clinvar variants

Variants in FGF14

Penetrance

None

Panels with this gene

History Filter Activity

7 Dec 2019, Gel status: 2

Set mode of inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene: FGF14 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

7 Dec 2019, Gel status: 2

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: FGF14 were changed from to Spinocerebellar ataxia 27, 609307

6 Dec 2019, Gel status: 2

Created, Added New Source, Set mode of inheritance

Ellen McDonagh (Genomics England Curator)

gene: FGF14 was added gene: FGF14 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: Expert Review Amber,London North GLH Mode of inheritance for gene: FGF14 was set to

Childhood onset dystonia, chorea or related movement disorder Gene: FGF14