DDG2P
Gene: FGF14

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

1 review

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The DDG2P confidence category for the disease FGF14-related episodic ataxia is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and absent gene product (PMIDs: 25566820;30607796;21600715).
Created: 4 Oct 2023, 5:08 p.m. | Last Modified: 4 Oct 2023, 5:08 p.m.

Panel Version: 3.12

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
FGF14-related episodic ataxia

Publications

Created: 4 Oct 2023, 5:08 p.m.
Last Modified: 4 Oct 2023, 5:08 p.m.
Panel version: 3.12

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Sources

DD-Gene2Phenotype
Expert Review Green

Phenotypes

FGF14-related episodic ataxia

OMIM

601515

Clinvar variants

Variants in FGF14

Penetrance

None

Publications

Panels with this gene

History Filter Activity

4 Oct 2023, Gel status: 3

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

Achchuthan Shanmugasundram (Genomics England Curator)

gene: FGF14 was added gene: FGF14 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: FGF14 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: FGF14 were set to 30607796; 25566820; 21600715 Phenotypes for gene: FGF14 were set to FGF14-related episodic ataxia

DDG2P Gene: FGF14