Genes in panel

Hereditary ataxia - adult onset

Gene: TSEN54

Green List (high evidence)

TSEN54 (tRNA splicing endonuclease subunit 54)
EnsemblGeneIds (GRCh38): ENSG00000182173
EnsemblGeneIds (GRCh37): ENSG00000182173
OMIM: 608755, Gene2Phenotype
TSEN54 is in 16 panels

2 reviews

Louise Daugherty (Genomics England Curator)

I don't know

Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group.
Created: 15 Apr 2019, 10:21 a.m.

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

Have considered all forms together and have not had the time to look into distinctions between them, plenty of families and variants in the literature across all three forms, ?just slight phenotypic variation
Created: 15 Apr 2019, 10:06 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Pontocerebellar hypoplasia 5, 610204, Pontocerebellar hypoplasia 2A, 277470, Pontocerebellar hypoplasia 4, 225753

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

History Filter Activity

19 May 2021, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: TSEN54 were changed from Pontocerebellar hypoplasia 5, 610204; Pontocerebellar hypoplasia 4, 225753; Pontocerebellar hypoplasia 2A, 277470; Pontocerebellar hypoplasia type 4, 225753; Pontocerebellar hypoplasia type 2A, 277470 to Pontocerebellar hypoplasia type 2A, OMIM:277470; Pontocerebellar hypoplasia type 4, OMIM:225753

15 Apr 2019, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Pontocerebellar hypoplasia 5, 610204; Pontocerebellar hypoplasia 2A, 277470; Pontocerebellar hypoplasia 4, 225753 for gene: TSEN54

14 Apr 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to TSEN54.

14 Apr 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source Wessex and West Midlands GLH was added to TSEN54.

9 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Louise Daugherty (Genomics England Curator)

Checked panel against panel constituents. Ready to promote to version 1.

9 Jan 2019, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: TSEN54 were changed from Pontocerebellar hypoplasia 2A (#277470) and 4 (#225753) to Pontocerebellar hypoplasia type 2A, 277470; Pontocerebellar hypoplasia type 4, 225753

15 Dec 2018, Gel status: 4

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

Eleanor Williams (Genomics England Curator)

gene: TSEN54 was added gene: TSEN54 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green Mode of inheritance for gene: TSEN54 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TSEN54 were set to Pontocerebellar hypoplasia 2A (#277470) and 4 (#225753)