TSEN54

tRNA splicing endonuclease subunit 54
OMIM: 608755
PanelMode of inheritanceDetails
9 panels
R-numbers: R83
Signed-off version 4.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Pontocerebellar hypoplasia type 4, OMIM:225753
Component of the following Super Panels:
  • - Hereditary ataxia and cerebellar anomalies - childhood onset
Signed-off version 3.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
?Pontocerebellar hypoplasia type 5, OMIM:610204, Pontocerebellar hypoplasia type 2A, OMIM:277470, Pontocerebellar hypoplasia type 4, OMIM:225753
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 3.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
PONTOCEREBELLAR HYPOPLASIA TYPE 2 AND TYPE 4 316970
R-numbers: R21, R412
Signed-off version 2.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
?Pontocerebellar hypoplasia type 5, OMIM:610204, Pontocerebellar hypoplasia type 2A, OMIM:277470, Pontocerebellar hypoplasia type 4, OMIM:225753
R-numbers: R59
Signed-off version 3.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
?Pontocerebellar hypoplasia type 5, OMIM:610204, Pontocerebellar hypoplasia type 2A, OMIM:277470, Pontocerebellar hypoplasia type 4, OMIM:225753
R-numbers: R54
Signed-off version 3.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Pontocerebellar hypoplasia type 2A, OMIM:277470, Pontocerebellar hypoplasia type 4, OMIM:225753
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 4.4
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
?Pontocerebellar hypoplasia type 5, OMIM:610204, Pontocerebellar hypoplasia type 2A, OMIM:277470, Pontocerebellar hypoplasia type 4, OMIM:225753
Component of the following Super Panels:
  • - Hypotonic infant
  • - Neuromuscular disorders
Signed-off version 2.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Pontocerebellar hypoplasia type 2A, OMIM:277470
R-numbers: R88
Signed-off version 3.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Pontocerebellar hypoplasia type 2A, OMIM:277470, Pontocerebellar hypoplasia type 4, OMIM:225753