Hereditary ataxia
Gene: FGF14
This is for SCA27B, a newly identified deep intronic GAA triplet repeat disorder that accounts for a substantial proportion of undiagnosed adult onset cerebellar ataxia patients. The PMC ID that I have listed is a recent review, which summarises the current literature on the genetics and phenotype of this disorder.Created: 28 Mar 2024, 12:08 p.m. | Last Modified: 28 Mar 2024, 12:08 p.m.
Panel Version: 1.332
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Adult onset cerebellar ataxia; adult onsent episodic ataxia; cerebellar oculomotor disturbances; vestibulopathy; peripheral neuropathy; dysautonomia; spasticity; parkinsonism
Publications
Mode of pathogenicity
Other
Comment 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