Genes in panel

Ataxia and cerebellar anomalies - narrow panel

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

0 reviews

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Pontocerebellar hypoplasia type 2C,612390
  • Pontocerebellar Hypoplasia type 2C
  • Pontocerebellar hypoplasia 2C (612390)
  • Pontocerebellar Hypoplasia
OMIM
608754
Clinvar variants
Variants in TSEN34
Penetrance
None
Publications
Panels with this gene

History Filter Activity

9 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Louise Daugherty (Genomics England Curator)

Checked against super panel made up of the panel constituents. Ready to promote to version 1.

19 Dec 2018, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Added phenotypes Pontocerebellar hypoplasia 2C (612390) for gene: TSEN34

19 Dec 2018, Gel status: 4

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

Ellen McDonagh (Genomics England Curator)

gene: TSEN34 was added gene: TSEN34 was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Green Mode of inheritance for gene: TSEN34 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TSEN34 were set to PMID: 18711368 Phenotypes for gene: TSEN34 were set to Pontocerebellar hypoplasia type 2C,612390; Pontocerebellar Hypoplasia type 2C; Pontocerebellar Hypoplasia