Genomics England
GMS Panels
Panels
Genes and Entities

CTU2

cytosolic thiouridylase subunit 2
OMIM: 617057
PanelMode of inheritanceDetails
5 panels
Green
in Disorders of sex development
R-numbers: R146
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome, OMIM:618142
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 3.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome, 618142
Green
in Intellectual disability - microarray and sequencing
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
DREAM‐PL syndrome, Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome, 618142
Green
in Paediatric disorders - additional genes
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 3.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome, OMIM:618142
Green
in Severe microcephaly
R-numbers: R88
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome, OMIM:618142