CAKUT
Gene: CTU2Comment 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
Multiple families reported though some share the same founder variant.
Sources: Expert listCreated: 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
Gene: ctu2 has been classified as Green List (High Evidence).
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
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