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Intellectual disability

Gene: CTU2

Green List (high evidence)

CTU2 (cytosolic thiouridylase subunit 2)
EnsemblGeneIds (GRCh38): ENSG00000174177
EnsemblGeneIds (GRCh37): ENSG00000174177
OMIM: 617057, Gene2Phenotype
CTU2 is in 4 panels

2 reviews

Rebecca Foulger (Genomics England curator)

Comment on list classification: Gene was added to panel and rated Green by Zornitza Stark. Sufficient cases of global DD in PMID:31301155 in patients that survived infancy to support causation. Therefore updated rating from Grey to Green.
Created: 30 Apr 2020, 3:02 p.m. | Last Modified: 30 Apr 2020, 3:02 p.m.
Panel Version: 3.33
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 5 patients. They also summarise the phenotypes of previous Saudi patients with a Founder allele (PMID:27480277, PMID:26633546). Global developmental delay was a constant feature in all patients who survived beyond early infancy (6 cases).
Created: 30 Apr 2020, 3 p.m. | Last Modified: 30 Apr 2020, 3 p.m.
Panel Version: 3.32

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Multiple Saudi families reported with same homozygous variant; founder effect. Severe disorder of infancy.
Sources: Expert list
Created: 1 Feb 2020, 7:18 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
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

1 Feb 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 Intellectual disability. 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 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