Genomics England
GMS Panels
Panels
Genes and Entities

TSEN54

tRNA splicing endonuclease subunit 54
OMIM: 608755
PanelMode of inheritanceDetails
8 panels
Green
in Arthrogryposis
R-numbers: R83
Signed-off version 3.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Pontocerebellar hypoplasia type 4 225753
Green
in Ataxia and cerebellar anomalies - narrow panel
Component of the following Super Panels:
  • - Hereditary ataxia and cerebellar anomalies - childhood onset
Signed-off version 2.23
BIALLELIC, autosomal or pseudoautosomal
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
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
PONTOCEREBELLAR HYPOPLASIA TYPE 2 AND TYPE 4 316970
Green
in Fetal anomalies
R-numbers: R21
Signed-off version 1.92
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
PONTOCEREBELLAR HYPOPLASIA TYPE 2 AND TYPE 4, Pontocerebellar hypoplasia type 2A, 277470, Pontocerebellar hypoplasia type 4, 225753
Green
in Genetic epilepsy syndromes
R-numbers: R59
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Pontocerebellar hypoplasia type 4, 225753, Pontocerebellar hypoplasia type 2A, 277470, ?Pontocerebellar hypoplasia type 5, 610204
Green
in Hereditary ataxia - adult onset
R-numbers: R54
Signed-off version 2.13
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Pontocerebellar hypoplasia 5, 610204, Pontocerebellar hypoplasia 4, 225753, Pontocerebellar hypoplasia 2A, 277470, Pontocerebellar hypoplasia type 4, 225753, Pontocerebellar hypoplasia type 2A, 277470
Green
in Intellectual disability
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 3.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
PONTOCEREBELLAR HYPOPLASIA TYPE 2 AND TYPE 4
Green
in Rhabdomyolysis and metabolic muscle disorders
Component of the following Super Panels:
  • - Hypotonic infant
  • - Neuromuscular disorders
Signed-off version 1.34
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
?Pontocerebellar hypoplasia type 5 610204, Pontocerebellar hypoplasia type 2A 277470, Pontocerebellar hypoplasia type 4 225753