Hereditary ataxia with onset in adulthood

Gene: TMEM240

Green List (high evidence)

On Oxford and Sheffield panels. SCA21. 8 families reported in a french study.

Created: 27 Apr 2019, 7:39 p.m.

I don't know

Review and rating submitted by James Polke (Neurogenetics Laboratory, Institute of Neurology, London) on behalf of London North GLH for GMS Neurology specialist test group

Created: 27 Apr 2019, 8:55 p.m.

Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group.

Created: 15 Apr 2019, 10:21 a.m.

Green List (high evidence)

Caution required here - not all of the variants reported in the original paper are absent from gnomAD as would be expected for an early onset AD gene. However, primary variant for which there is ample segregation data is fine. In addition, functional paper seems to report predominant effects in those variants appearing in gnomAD which casts doubt on usefulness of this study. Overall have two families with the original p.Pro170Leu variant, with de novo occurence in one, plus another individual with this variant in our own cohort. Just about Green List (High Evidence) on balance

Created: 15 Apr 2019, 10:06 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Spinocerebellar ataxia 21, 607454

Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments

Variants in this GENE are reported as part of current diagnostic practice