TSEN54

tRNA splicing endonuclease subunit 54
OMIM: 608755
PanelMode of inheritanceDetails
8 panels
R-numbers: R83
Signed-off version 3.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Pontocerebellar hypoplasia type 4 225753
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
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
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
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
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
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