Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic
Gene: CTU2

CTU2 (cytosolic thiouridylase subunit 2)
EnsemblGeneIds (GRCh38): ENSG00000174177
EnsemblGeneIds (GRCh37): ENSG00000174177
OMIM: 617057, Gene2Phenotype
CTU2 is in 8 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

More than 6 families reported, four had the same founder variant.
Created: 19 Dec 2021, 7:34 a.m. | Last Modified: 19 Dec 2021, 7:34 a.m.

Panel Version: 0.10295

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome, MIM#618142

Publications

Created: 19 Dec 2021, 7:34 a.m.
Last Modified: 19 Dec 2021, 7:34 a.m.
Panel version: Imported from Mendeliome panel version 0.10295

Chirag Patel (Genetic Health Queensland)

Green List (high evidence)

Multiple Saudi families with the same homozygous mutation.
Sources: Expert list
Created: 27 Nov 2019, 11:37 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome

Publications

PMID: 27480277
26633546

Created: 27 Nov 2019, 11:37 p.m.

Panel version: Imported from Congenital abnormalities of the kidney and urinary tract (CAKUT)_KidGen panel version 0.1

Details

Mode of Inheritance

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

OMIM

617057

Clinvar variants

Variants in CTU2

Penetrance

None

Publications

Panels with this gene