CTU2

cytosolic thiouridylase subunit 2
OMIM: 617057
PanelMode of inheritanceDetails
5 panels
R-numbers: R146
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome, OMIM:618142
R-numbers: R21, R412
Signed-off version 3.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome, 618142
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
DREAMā€PL syndrome, Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome, 618142
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
R-numbers: R88
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome, OMIM:618142