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CAKUT

Gene: CTU2

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

2 reviews

Rebecca Foulger (Genomics England curator)

Comment on list classification: Added to panel and rated Green by Zornitza Stark. The Saudi cases all share a founder variant (PMIDs:26633546, 27480277) but a more recent study by the same authors (PMID:31301155) identifies a further 4 patients with a renal phenotype as part of DREAM‐PL syndrome, and new homozygous CTU2 variants. Therefore relevant renal phenotype and sufficient unrelated cases to support association.
Created: 30 Apr 2020, 2:58 p.m. | Last Modified: 30 Apr 2020, 2:58 p.m.
Panel Version: 1.69
PMID:31301155 (Shaheen et al., 2019) show that biallelic CTU2 variants cause DREAM-PL syndrome (dysmorphic facies, renal agenesis, ambiguous genitalia, microcephaly, polydactyly, and lissencephaly) in a further 5 patients. 4/5 patients had a renal phenotype. These 5 patients had different variants to the previously described founder variant, including Ala403Cysfs*23, Leu63Pro, p.Ile505Argfs*41.
Created: 30 Apr 2020, 2:54 p.m. | Last Modified: 30 Apr 2020, 2:54 p.m.
Panel Version: 1.67
PMID:27480277 (Shaheen et al., 2016) identified 2 male cousins from the United Arab Emirates with the same founder T247T variant. This founder variant has a frequency of 1/769 in Saudi Arabia.
Created: 30 Apr 2020, 2:53 p.m. | Last Modified: 30 Apr 2020, 2:53 p.m.
Panel Version: 1.67
PMID:26633546. In 3 boys from 3 consanguineous Saudi families, Shaheen et al., (2015) identified a homozygous synonymous variant in CTU2 (T247T) that was shown to impair splicing and result in a premature stop codon.
Created: 30 Apr 2020, 2:53 p.m. | Last Modified: 30 Apr 2020, 2:53 p.m.
Panel Version: 1.67
Created: 30 Apr 2020, 2:53 p.m.
Last Modified: 30 Apr 2020, 2:53 p.m.
Panel version: 1.67

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Multiple families reported though some share the same founder variant.
Sources: Expert list
Created: 16 Jan 2020, 3:37 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 16 Jan 2020, 3:37 a.m.

Panel version: 1.41

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • DREAM‐PL syndrome
  • Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome, 618142
OMIM
617057
Clinvar variants
Variants in CTU2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

30 Apr 2020, Gel status: 3

Entity classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

Gene: ctu2 has been classified as Green List (High Evidence).

30 Apr 2020, Gel status: 0

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Phenotypes for gene: CTU2 were changed from Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome, MIM#618142 to DREAM‐PL syndrome; Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome, 618142

16 Jan 2020, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Australian Genomics)

gene: CTU2 was added gene: CTU2 was added to CAKUT. Sources: Expert list Mode of inheritance for gene: CTU2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CTU2 were set to 27480277; 26633546; 31301155 Phenotypes for gene: CTU2 were set to Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome, MIM#618142 Review for gene: CTU2 was set to GREEN gene: CTU2 was marked as current diagnostic