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DDG2P

Gene: TSEN34

Green List (high evidence)
TSEN34 (tRNA splicing endonuclease subunit 34)
EnsemblGeneIds (GRCh38): ENSG00000170892
EnsemblGeneIds (GRCh37): ENSG00000170892
OMIM: 608754, Gene2Phenotype
TSEN34 is in 11 panels

3 reviews

Ida Ertmanska (Genomics England Curator)

There is only one patient reported in literature with a biallelic variant in TSEN34 and Pontocerebellar hypoplasia type 2 (PMID: 20952379 Namavar et al., 2011). While TSEN34 shares a biochemical function with other genes known to cause Pontocerebellar hypoplasia type 2, the clinical evidence for this gene-disease association is lacking in literature (see literature review on Intellectual disability panel). Hence, TSEN34 should be demoted from Green, until more evidence emerges.
Created: 31 Dec 2025, 10:59 a.m. | Last Modified: 31 Dec 2025, 10:59 a.m.
Panel Version: 6.14
Created: 31 Dec 2025, 10:59 a.m.
Last Modified: 31 Dec 2025, 10:59 a.m.
Panel version: 6.14

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The DDG2P confidence category, allelic requirement and molecular mechanism for TSEN34-related pontocerebellar hypoplasia are strong, biallelic_autosomal and undetermined (PMID:18711368). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00487.
Created: 13 Feb 2026, 9:26 p.m. | Last Modified: 13 Feb 2026, 9:26 p.m.
Panel Version: 6.17
The DDG2P confidence category for the disease PONTOCEREBELLAR HYPOPLASIA TYPE 2 AND TYPE 4, OMIM:316970 is strong. The allelic requirement and mutation consequence are biallelic_autosomal and altered gene product structure.
Created: 4 Oct 2023, 5:08 p.m. | Last Modified: 4 Oct 2023, 5:08 p.m.
Panel Version: 3.12

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
PONTOCEREBELLAR HYPOPLASIA TYPE 2 AND TYPE 4, OMIM:316970; MONDO:0012891; TSEN34-related pontocerebellar hypoplasia; OMIM:612390.0

Publications

Mode of pathogenicity
Other

Created: 4 Oct 2023, 5:08 p.m.
Last Modified: 4 Oct 2023, 5:08 p.m.
Panel version: 6.17

Rebecca Foulger (Genomics England curator)

I don't know

Original DDG2P rating: probable. DDG2P mode of pathogenicity: all missense/in frame
Created: 19 Nov 2018, 11:31 a.m.
Created: 19 Nov 2018, 11:31 a.m.

Panel version: 0.2

History Filter Activity

20 Feb 2026, Gel status: 3

Set mode of pathogenicity

Achchuthan Shanmugasundram (Genomics England Curator)

Mode of pathogenicity for gene: TSEN34 was changed from Other to None

4 Oct 2023, Gel status: 3

Added New Source, Set mode of pathogenicity, Status Update

Achchuthan Shanmugasundram (Genomics England Curator)

Source Expert Review Green was added to TSEN34. Mode of pathogenicity for gene TSEN34 was changed from Other - please provide details in the comments to Other Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

29 Jan 2019, Gel status: 2

Panel promoted to version 1.0

Rebecca Foulger (Genomics England curator)

Rebecca Foulger: Original DDG2P rating: probabl

19 Nov 2018, Gel status: 2

Created, Added New Source, Set mode of inheritance, Set Phenotypes, Set mode of pathogenicity

Rebecca Foulger (Genomics England curator)

gene: TSEN34 was added gene: TSEN34 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: TSEN34 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TSEN34 were set to PONTOCEREBELLAR HYPOPLASIA TYPE 2 AND TYPE 4 316970 Mode of pathogenicity for gene: TSEN34 was set to Other - please provide details in the comments