Ataxia - paediatric
Gene: FGF14
FGF14 (fibroblast growth factor 14)
EnsemblGeneIds (GRCh38): ENSG00000102466
EnsemblGeneIds (GRCh37): ENSG00000102466
OMIM: 601515, Gene2Phenotype
FGF14 is in 7 panels
EnsemblGeneIds (GRCh38): ENSG00000102466
EnsemblGeneIds (GRCh37): ENSG00000102466
OMIM: 601515, Gene2Phenotype
FGF14 is in 7 panels
1 review
Bryony Thompson (Royal Melbourne Hospital)
Onset in late-childhood to early adulthood (12 to 20 years).
Sources: Expert listCreated: 16 Apr 2020, 11:16 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Spinocerebellar ataxia 27 MIM#609307
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Expert list
- Phenotypes
-
- Spinocerebellar ataxia 27 MIM#609307
- OMIM
- 601515
- Clinvar variants
- Variants in FGF14
- Penetrance
- None
- Panels with this gene
History Filter Activity
16 Apr 2020, Gel status: 3
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: fgf14 has been classified as Green List (High Evidence).
16 Apr 2020, Gel status: 3
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: fgf14 has been classified as Green List (High Evidence).
16 Apr 2020, Gel status: 1
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 - paediatric. Sources: Expert list Mode of inheritance for gene: FGF14 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: FGF14 were set to Spinocerebellar ataxia 27 MIM#609307 Review for gene: FGF14 was set to GREEN