Genes in panel

Ataxia and cerebellar anomalies - narrow panel

Gene: TSEN2

Green List (high evidence)

TSEN2 (tRNA splicing endonuclease subunit 2)
EnsemblGeneIds (GRCh38): ENSG00000154743
EnsemblGeneIds (GRCh37): ENSG00000154743
OMIM: 608753, Gene2Phenotype
TSEN2 is in 12 panels

0 reviews

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
Phenotypes
  • Pontocerebellar Hypoplasia
  • Pontocerebellar hypoplasia type 2B,612389
  • Pontocerebellar Hypoplasia type 2B
  • Pontocerebellar hypoplasia 2B (612389)
OMIM
608753
Clinvar variants
Variants in TSEN2
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, Set publications

Ellen McDonagh (Genomics England Curator)

Added phenotypes Pontocerebellar Hypoplasia; Pontocerebellar Hypoplasia type 2B; Pontocerebellar hypoplasia type 2B,612389 for gene: TSEN2 Publications for gene TSEN2 were changed from to PMID: 18711368; PMID: 23562994; PMID: 20952379

19 Dec 2018, Gel status: 4

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

Ellen McDonagh (Genomics England Curator)

gene: TSEN2 was added gene: TSEN2 was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Green Mode of inheritance for gene: TSEN2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TSEN2 were set to Pontocerebellar hypoplasia 2B (612389)