Hereditary ataxia

Gene: FGF14

FGF14_TTC short tandem repeat has already been added to relevant GMS panels. For more details see:
- https://panelapp.genomicsengland.co.uk/panels/846/str/FGF14_TTC/
- https://panelapp.genomicsengland.co.uk/panels/466/str/FGF14_TTC/

Created: 9 Oct 2025, 4:08 p.m. | Last Modified: 9 Oct 2025, 4:08 p.m.

Panel Version: 1.342

Green List (high evidence)

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

• PMC10844931

Mode of pathogenicity
Other

Comment when marking as ready: Good evidence from expert reviewer and OMIM

Created: 2 Feb 2016, 9:59 a.m.

Green List (high evidence)

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