CTU2

cytosolic thiouridylase subunit 2
OMIM: 617057, ClinGen, DECIPHER

10 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 10 panels
Green CTU2 in Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic Level 2: Renal and urinary tract disorders Version 0.161 Component of the following Super Panels: Congenital abnormalities of the kidneys and urinary tract (CAKUT)_SuperPanel Kidneyome_SuperPanel	2 reviews	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 Differences of Sex Development Level 2: Dysmorphic and congenital abnormality syndromes Version 1.36	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes DREAM-PL syndrome (Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome), MIM#618142
Green CTU2 in Mendeliome Version 1.4216	1 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 1.405	1 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 1.362 Component of the following Super Panels: Progressive Neurological Conditions	1 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 0.588	0 reviews	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 1.638	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome, MIM#618142
No list CTU2 in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 0.111	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Phenotypes global developmental delay microcephaly growth restriction dysmorphism renal agenesis congenital heart defects, epilepsy, microphthalmia coloboma
Green CTU2 in Fetal anomalies Version 1.522	2 reviews	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
No list CTU2 in Genomic newborn screening: BabyScreen+ Level 2: Screening Version 1.147	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Phenotypes global developmental delay microcephaly growth restriction dysmorphism renal agenesis congenital heart defects, epilepsy, microphthalmia coloboma