Cerebellar hypoplasia

Gene: TSEN34

Comment on list classification: 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, 11:06 a.m. | Last Modified: 31 Dec 2025, 11:06 a.m.

Panel Version: 1.84

Red List (low evidence)

Although a very good candidate gene from a biological perspective, I can only find one family reported in the literature.

Created: 21 Apr 2020, 1:41 a.m. | Last Modified: 21 Apr 2020, 1:41 a.m.

Panel Version: 1.39

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Pontocerebellar hypoplasia type 2C 612390

Publications

• 18711368

I don't know

Comment on list classification: Offered on UKGTN and GOSH PCH panel

Created: 14 Nov 2016, 10:41 a.m.

TSEN54 is part of a tRNA splicing endonuclease complex consisting of four subunits: TSEN2, TSEN15, TSEN34 and TSEN54. TSEN54 mutations known to cause PCH. Only one report of TSEN34 mutations causing PCH. Offered as diagnostic test by UKGTN and probable DD on G2P.

Created: 3 Nov 2016, 9:46 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Comment on list classification: Gene added by reviewer, and found in 3/4 sources.

Created: 19 May 2016, 8:53 a.m.