Hereditary ataxia with onset in adulthood
Gene: TSEN15The 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
Comment on list classification: This gene should be demoted from Green to Red at the next GMS panel reviewCreated: 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
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.
Sufficient families/variants in literature plus functional evidence of reduced enzymatic function caused by missense variantsCreated: 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
Tag Q2_21_rating was removed from gene: TSEN15.
Source Expert Review Red was added to TSEN15. Rating Changed from Green List (high evidence) to Red List (low evidence)
Publications for gene: TSEN15 were set to
Gene: tsen15 has been classified as Green List (High Evidence).
Tag Q2_21_rating tag was added to gene: TSEN15.
Phenotypes for gene: TSEN15 were changed from Pontocerebellar hypoplasia 2F, 617026 to Pontocerebellar hypoplasia, type 2F, OMIM:617026
Mode of inheritance for gene: TSEN15 was changed from to BIALLELIC, autosomal or pseudoautosomal
Gene: tsen15 has been classified as Green List (High Evidence).
Added phenotypes Pontocerebellar hypoplasia 2F, 617026 for gene: TSEN15
Source NHS GMS was added to TSEN15.
gene: TSEN15 was added gene: TSEN15 was added to Hereditary ataxia - adult onset. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: TSEN15 was set to