Cerebellar hypoplasia
Gene: TSEN34
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
Comment on list classification: Offered on UKGTN and GOSH PCH panelCreated: 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.
22/02/2017: Panel revised after internal clinical review and further curation.
This gene has been classified as Green List (High Evidence).
This gene has been classified as Amber List (Moderate Evidence).
This gene has been classified as Amber List (Moderate Evidence).
This gene has been classified as Green List (High Evidence).
This proposed gene was validated and added to this panel
TSEN34 was added to Cerebellar hypoplasiapanel. Source: Illumina TruGenome Clinical Sequencing Services
TSEN34 was added to Cerebellar hypoplasiapanel. Source: Radboud University Medical Center, Nijmegen
TSEN34 was added to Cerebellar hypoplasiapanel. Source: UKGTN
TSEN34 was added to Cerebellar hypoplasiapanel. Sources: Literature,Other
TSEN34 was created by helen.savage