Hereditary ataxia with onset in adulthood

Gene: TSEN15

The rating of this gene has been updated following NHS Genomic Medicine Service approval.

Created: 9 Mar 2022, 5:26 p.m. | Last Modified: 9 Mar 2022, 5:26 p.m.

Panel Version: 2.144

Red List (low evidence)

Comment on list classification: This gene should be demoted from Green to Red at the next GMS panel review

Created: 18 May 2021, 1:17 p.m. | Last Modified: 18 May 2021, 1:17 p.m.

Panel Version: 2.50

PMID: 27392077 (Breuss et al, 2016) report three homozygous TSEN15 variants in four individuals from three families. Affected individuals showed progressive microcephaly, delayed developmental milestones, variable intellectual disability (and in 2 of 4 cases, epilepsy). Although two individuals were found to have pontocerebellar hypoplasia on brain MRI, none had developed ataxia by the time of publication. Furthermore, this is a childhood-onset condition (age of diagnosis: birth - 2 years; age at last examination: 16 months - 12.5 years) and therefore not appropriate for this panel.

Created: 18 May 2021, 1:17 p.m. | Last Modified: 18 May 2021, 1:17 p.m.

Panel Version: 2.49

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Pontocerebellar hypoplasia, type 2F, OMIM:617026

Publications

• 27392077

I don't know

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)

Sufficient families/variants in literature plus functional evidence of reduced enzymatic function caused by missense variants

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

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Pontocerebellar hypoplasia 2F, 617026

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