Cerebellar hypoplasia

Gene: TSEN34

Green List (high evidence)

TSEN34 (tRNA splicing endonuclease subunit 34)
EnsemblGeneIds (GRCh38): ENSG00000170892
EnsemblGeneIds (GRCh37): ENSG00000170892
OMIM: 608754, Gene2Phenotype
TSEN34 is in 12 panels

3 reviews

Zornitza Stark (Australian Genomics)

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

Alice Gardham (Genomics England)

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

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Gene added by reviewer, and found in 3/4 sources.
Created: 19 May 2016, 8:53 a.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Pontocerebellar Hypoplasia type 2C
  • Pontocerebellar Hypoplasia
  • Pontocerebellar hypoplasia type 2C,612390
OMIM
608754
Clinvar variants
Variants in TSEN34
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

22 Feb 2017, Gel status: 4

panel promoted to version 1

Ellen McDonagh (Genomics England Curator)

22/02/2017: Panel revised after internal clinical review and further curation.

14 Nov 2016, Gel status: 4

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Green List (High Evidence).

14 Nov 2016, Gel status: 2

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Amber List (Moderate Evidence).

3 Nov 2016, Gel status: 2

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Amber List (Moderate Evidence).

19 May 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

11 May 2016, Gel status: 0

Approved Gene

Ellen McDonagh (Genomics England Curator)

This proposed gene was validated and added to this panel

11 May 2016, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

TSEN34 was added to Cerebellar hypoplasiapanel. Source: Illumina TruGenome Clinical Sequencing Services

11 May 2016, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

TSEN34 was added to Cerebellar hypoplasiapanel. Source: Radboud University Medical Center, Nijmegen

11 May 2016, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

TSEN34 was added to Cerebellar hypoplasiapanel. Source: UKGTN

20 Jan 2016, Gel status: 0

Added New Source

Helen Savage (Congenica Ltd)

TSEN34 was added to Cerebellar hypoplasiapanel. Sources: Literature,Other

20 Jan 2016, Gel status: 0

Created

Helen Savage (Congenica Ltd)

TSEN34 was created by helen.savage