PanelApp (stage)
  1. Genes and Genomic Entities
  2. CTU2

CTU2

cytosolic thiouridylase subunit 2
OMIM: 617057, Gene2Phenotype

7 panels

Panel Reviews Mode of inheritance Details
7 panels

Green CTU2 in Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic


Level 2: Renal and urinary tract disorders
Version 0.138

Component of the following Super Panels:

  • Congenital abnormalities of the kidneys and urinary tract (CAKUT)_SuperPanel
  • Kidneyome_SuperPanel

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert Review Green
    • Expert list
    • Victorian Clinical Genetics Services
    • Victorian Clinical Genetics Services
    Phenotypes
    • Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome

    Green CTU2 in Mendeliome


    Version 1.1891

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome, MIM#618142

    Green CTU2 in Microcephaly


    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 1.269

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome (MIM#618142)

    Green CTU2 in Genetic Epilepsy


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.33

    Component of the following Super Panels:

  • Progressive Neurological Conditions

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome, MIM#618142

    Green CTU2 in Callosome


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.522

    		review Unknown
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green

    Green CTU2 in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.6063

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome, MIM#618142

    Green CTU2 in Fetal anomalies


    Version 1.255

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    • Expert list
    Phenotypes
    • Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome, MIM#618142