Arthrogryposis
Gene: TSEN54

TSEN54 (tRNA splicing endonuclease subunit 54)
EnsemblGeneIds (GRCh38): ENSG00000182173
EnsemblGeneIds (GRCh37): ENSG00000182173
OMIM: 608755, Gene2Phenotype
TSEN54 is in 14 panels

1 review

Alice Gardham (Genomics England)

Red List (low evidence)

Comment on list classification: GeneReviews states as many as 50% have arthrogryposis
Created: 22 Dec 2016, 2:14 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Pontocerebellar hypoplasia type 4 225753

Created: 22 Dec 2016, 2:10 p.m.

Panel version: 1.84

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Radboud University Medical Center, Nijmegen
UKGTN
Illumina TruGenome Clinical Sequencing Services
Expert Review Green
Expert list

Phenotypes

Pontocerebellar hypoplasia type 4, OMIM:225753

OMIM

608755

Clinvar variants

Variants in TSEN54

Penetrance

Complete

Publications

Panels with this gene

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 type 4 225753 to Pontocerebellar hypoplasia type 4, OMIM:225753

19 May 2021, Gel status: 3

Set publications

Arina Puzriakova (Genomics England Curator)

Publications for gene: TSEN54 were set to

16 Jan 2017, Gel status: 4

panel promoted to version 2

Ellen McDonagh (Genomics England Curator)

16th Jan 2016: This gene panel was extensively revised with the addition of 101 green genes and review by Alice Gardham. Due to this extensive change to the panel, the decision was made to promote it to the next major version, version 2.

22 Dec 2016, Gel status: 4