Genes in panel

Hereditary ataxia - adult onset

Gene: TSEN15

Red List (low evidence)

TSEN15 (tRNA splicing endonuclease subunit 15)
EnsemblGeneIds (GRCh38): ENSG00000198860
EnsemblGeneIds (GRCh37): ENSG00000198860
OMIM: 608756, Gene2Phenotype
TSEN15 is in 8 panels

4 reviews

Sarah Leigh (Genomics England Curator)

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

Arina Puzriakova (Genomics England Curator)

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

Louise Daugherty (Genomics England Curator)

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.

Tracy Lester (Genetics laboratory, Oxford UK)

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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • Pontocerebellar hypoplasia, type 2F, OMIM:617026
OMIM
608756
Clinvar variants
Variants in TSEN15
Penetrance
None
Publications
Panels with this gene

History Filter Activity

9 Mar 2022, Gel status: 1

Removed Tag

Eleanor Williams (Genomics England Curator)

Tag Q2_21_rating was removed from gene: TSEN15.

9 Mar 2022, Gel status: 1

Added New Source, Status Update

Eleanor Williams (Genomics England Curator)

Source Expert Review Red was added to TSEN15. Rating Changed from Green List (high evidence) to Red List (low evidence)

18 May 2021, Gel status: 3

Set publications

Arina Puzriakova (Genomics England Curator)

Publications for gene: TSEN15 were set to

18 May 2021, Gel status: 3

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: tsen15 has been classified as Green List (High Evidence).

18 May 2021, Gel status: 3

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag Q2_21_rating tag was added to gene: TSEN15.

18 May 2021, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: TSEN15 were changed from Pontocerebellar hypoplasia 2F, 617026 to Pontocerebellar hypoplasia, type 2F, OMIM:617026

27 Apr 2019, Gel status: 3

Set mode of inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene: TSEN15 was changed from to BIALLELIC, autosomal or pseudoautosomal

27 Apr 2019, Gel status: 3

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: tsen15 has been classified as Green List (High Evidence).

15 Apr 2019, Gel status: 1

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Pontocerebellar hypoplasia 2F, 617026 for gene: TSEN15

14 Apr 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to TSEN15.

14 Apr 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

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