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Genetic epilepsy syndromes

Gene: TSEN15

Amber List (moderate evidence)

TSEN15 (tRNA splicing endonuclease subunit 15)
EnsemblGeneIds (GRCh38): ENSG00000198860
EnsemblGeneIds (GRCh37): ENSG00000198860
OMIM: 608756, Gene2Phenotype
TSEN15 is in 7 panels

4 reviews

Tracy Lester (Genetics laboratory, Oxford UK)

I don't know

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Pontocerebellar hypoplasia, type 2F, 617026

Publications

Rebecca Foulger (Genomics England curator)

I don't know

Review and rating collated by Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust, 2019_02_06) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group, for Clinical Indication R59 'Early onset or syndromic epilepsy'. Review contributors: Alison Callaway and John Taylor. Suggested gene rating: Amber.
Created: 6 Aug 2019, 8:38 p.m. | Last Modified: 6 Aug 2019, 8:38 p.m.
Panel Version: 1.189
Comment on list classification: Kept rating as Amber: Although Zornitza correctly notes that seizures are amongst the phenotypes of MIM:617026, there are currently insufficient published cases to support a Green rating: PMID:27392077 (Breuss et al., 2016) report three homozygous TSEN15 variants in four individuals from three families with ID and progressive microcephaly. Epilepsy is reported in 2 of the 4 cases (families I and II) only. Added 'watchlist' tag.
Created: 14 May 2019, 3:07 p.m.

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Seizures are part of the phenotype of this brain development disorder.
Created: 22 Aug 2018, 7:06 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Pontocerebellar hypoplasia, type 2F, MIM#617026

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

Sarah Leigh (Genomics England Curator)

I don't know

Associated with relevant phenotype in OMIM and as probable Gen2Phen gene. At least 3 homozygous variants reported in 3 unrelated cases, of which 2 display seizures.
Created: 31 Jul 2018, 4:40 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Pontocerebellar hypoplasia, type 2F 617026

Publications

Details

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

History Filter Activity

6 Aug 2019, Gel status: 2

Added New Source

Rebecca Foulger (Genomics England curator)

Source Wessex and West Midlands GLH was added to TSEN15.

6 Aug 2019, Gel status: 2

Added New Source

Rebecca Foulger (Genomics England curator)

Source NHS GMS was added to TSEN15.

14 May 2019, Gel status: 2

Entity classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

Gene: tsen15 has been classified as Amber List (Moderate Evidence).

14 May 2019, Gel status: 2

Set Phenotypes

Rebecca Foulger (Genomics England curator)

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

11 Dec 2018, Gel status: 2

Panel promoted to version 1.0

Sarah Leigh (Genomics England Curator)

Sarah Leigh: Associated with relevant pheno

26 Sep 2018, Gel status: 2

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: tsen15 has been classified as Amber List (Moderate Evidence).

31 Jul 2018, Gel status: 2

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: tsen15 has been classified as Amber List (Moderate Evidence).

31 Jul 2018, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

TSEN15 was added to Genetic Epilepsy Syndromes panel. Sources: Literature

31 Jul 2018, Gel status: 1

Created

Sarah Leigh (Genomics England Curator)

TSEN15 was created by Sarah Leigh