Hereditary ataxia
Gene: FGF14Comment when marking as ready: Good evidence from expert reviewer and OMIMCreated: 2 Feb 2016, 9:59 a.m.
Good evidence in lit. Positive on our panel. Mode of inheritance/pathogenicity: Haploinsufficiency.Created: 24 Nov 2015, 4:57 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Spinocerebellar ataxia 27
Variants in this GENE are reported as part of current diagnostic practice
This gene has been classified as Green List (High Evidence).
Model of inheritance for gene FGF14 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
FGF14 was added to Hereditary ataxiapanel. Sources: Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services,UKGTN
Model of inheritance for gene FGF14 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
FGF14 was added to Hereditary ataxiapanel. Sources: Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services,UKGTN
FGF14 was added to Hereditary ataxiapanel. Sources: Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services,UKGTN