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Genetic epilepsy syndromes

Gene: CTU2

Amber List (moderate evidence)

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

1 review

Rebecca Foulger (Genomics England curator)

Comment on list classification: Added to panel as Amber: Sufficient cases of seizures but 1 patient shows febrile seizures, and phenotype is variable. Plus just one study so far. Therefore Amber is appropriate, awaiting further evidence.
Created: 30 Apr 2020, 3:10 p.m. | Last Modified: 30 Apr 2020, 3:10 p.m.
Panel Version: 2.43
Added to panel based on PMID:31301155 (Shaheen et al., 2019) who characterise the phenotype of 5 patients with DREAM-PL syndrome (Dysmorphic facies, renal agenesis, ambiguous genitalia, microcephaly, polydactyly, and lissencephaly) and summarise 4 Founder patients from previous studies (PMID:27480277, PMID:26633546). In total 6/10 patients had seizures including Generalized epilepsy, atypical absence seizures, complex febriles seizures and focal epilepsy.
Sources: Literature
Created: 30 Apr 2020, 3:09 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
seizures; DREAM‐PL syndrome; Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome, 618142

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
Phenotypes
  • seizures
  • 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: 2

Entity classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

Gene: ctu2 has been classified as Amber List (Moderate Evidence).

30 Apr 2020, Gel status: 1

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

Rebecca Foulger (Genomics England curator)

gene: CTU2 was added gene: CTU2 was added to Genetic epilepsy syndromes. Sources: Literature Mode of inheritance for gene: CTU2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CTU2 were set to 31301155 Phenotypes for gene: CTU2 were set to seizures; DREAM‐PL syndrome; Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome, 618142