1. Panels
  2. Hereditary ataxia
  3. TSEN34

Hereditary ataxia

Gene: TSEN34

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

1 review

Jonathan Williams (Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust)

Red List (low evidence)

PCH2B. Single family, one homozygous variant
Created: 24 Nov 2015, 4:57 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Pontocerebellar hypoplasia 2C (612390)

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

Created: 24 Nov 2015, 4:57 p.m.

Panel version: 0

History Filter Activity

11 Jul 2016, Gel status: 1

Gene classified by Genomics England curator

emma baple (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

11 Jul 2016, Gel status: 1

Gene classified by Genomics England curator

emma baple (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

24 Nov 2015, Gel status: 0

Created

Jonathan Williams (Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust)

TSEN34 was created by jonathan.williams

24 Nov 2015, Gel status: 0

Added New Source

Jonathan Williams (Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust)

TSEN34 was added to Hereditary ataxiapanel. Sources: Expert Review