Genes in panel

Ataxia and cerebellar anomalies - narrow panel

Gene: TSEN54

Green List (high evidence)

TSEN54 (tRNA splicing endonuclease subunit 54)
EnsemblGeneIds (GRCh38): ENSG00000182173
EnsemblGeneIds (GRCh37): ENSG00000182173
OMIM: 608755, Gene2Phenotype
TSEN54 is in 15 panels

0 reviews

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
Phenotypes
  • Pontocerebellar Hypoplasia type 2A
  • Pontocerebellar hypoplasia 2A (#277470) and 4 (#225753)
  • Pontocerebellar hypoplasia type 2A, 277470
  • Pontocerebellar Hypoplasia type 4
  • Pontocerebellar hypoplasia type 4, 225753
  • Pontocerebellar Hypoplasia
  • Pontocerebellar Hypoplasia type 5
OMIM
608755
Clinvar variants
Variants in TSEN54
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 2A (#277470) and 4 (#225753) for gene: TSEN54

19 Dec 2018, Gel status: 4

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

Ellen McDonagh (Genomics England Curator)

gene: TSEN54 was added gene: TSEN54 was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Green Mode of inheritance for gene: TSEN54 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TSEN54 were set to PMID: 20956791; PMID: 18711368; PMID: 20952379; PMID: 21368912 Phenotypes for gene: TSEN54 were set to Pontocerebellar Hypoplasia type 2A; Pontocerebellar hypoplasia type 2A, 277470; Pontocerebellar Hypoplasia type 4; Pontocerebellar hypoplasia type 4, 225753; Pontocerebellar Hypoplasia; Pontocerebellar Hypoplasia type 5