Genomics England
GMS Panels
Panels
Genes and Entities

TSEN34

tRNA splicing endonuclease subunit 34
OMIM: 608754
PanelMode of inheritanceDetails
4 panels
Green
in Ataxia and cerebellar anomalies - narrow panel
Component of the following Super Panels:
  • - Hereditary ataxia and cerebellar anomalies - childhood onset
Signed-off version 6.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Pontocerebellar hypoplasia type 2C,612390, Pontocerebellar Hypoplasia type 2C, Pontocerebellar hypoplasia 2C (612390), Pontocerebellar Hypoplasia
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 4.15
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
PONTOCEREBELLAR HYPOPLASIA TYPE 2 AND TYPE 4 316970
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 4.195
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
PONTOCEREBELLAR HYPOPLASIA TYPE 2 AND TYPE 4
Green
in Intellectual disability
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 7.51
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
PONTOCEREBELLAR HYPOPLASIA TYPE 2 AND TYPE 4