Disorders of sex development

Gene: CTU2

Amber List (moderate evidence)

CTU2 (cytosolic thiouridylase subunit 2)
EnsemblGeneIds (GRCh38): ENSG00000174177
EnsemblGeneIds (GRCh37): ENSG00000174177
OMIM: 617057, Gene2Phenotype
CTU2 is in 7 panels

2 reviews

Ivone Leong (Genomics England Curator)

Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a relevant phenotype in OMIM and Gene2Phenotype.

PMID:26633546. Affected members of all 3 families have microcephaly, facial dysmorphia and unilateral renal agenesis. 2/3 families have ambiguous genitalia; however, only 1 family had karyotyping done, which showed normal male karyotype (46 XY). 2/3 had congenital heart disease.

PMID: 27480277. Same variant as PMID:26633546. Affected individuals in this extended family have similar phenotype as PMID:26633546. Patient 1: in addition to microcephaly also has renal anomalies (small kidneys) and possible ambiguous genitalia with normal XY karyotype. Patient 2: cousin of patient 1. In addition to microcephaly did not have renal anomalies and nor ambiguous genitalia. Both patients have congenital heart disease.

PMID: 31301155. 5 new cases, all with microcephaly. 4/5 with renal anomalies, 2/5 with ambiguous genitalia, 4/5 congenital heart disease.

There is enough evidence to support a gene-disease association. This gene should be rated Green at the next review.
Created: 6 May 2021, 10:55 a.m. | Last Modified: 6 May 2021, 10:55 a.m.
Panel Version: 2.146

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Dysmorphic facies, renal agenesis, ambiguous genitalia, microcephaly, polydactyly and lissencephaly (DREAM-PL) as proposed by authors.

PMID: 26633546
- 3 consanguineous families all with the same splice variant (NM_001012762.1:c.873G>A). Assumed to be founder variant
- all had microcephaly but measurements were not provided

PMID: 27480277
- 2 additional patients from an extended consanguineous family with the same variant as above
- Patient 1: head circumference of -3.5SD at birth, not growing
- Patient 2: head circumference of -4.3 SD

PMID: 31301155
- 5 new patients with microcephaly (no measurements provided)
- 3x PTVs and 1x missense
Sources: Expert list
Created: 4 Sep 2020, 10:20 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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


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


Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
  • Expert list
  • Expert Review Amber
  • Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome, OMIM:618142
Clinvar variants
Variants in CTU2
Panels with this gene

History Filter Activity

6 May 2021, Gel status: 2

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

Ivone Leong (Genomics England Curator)

gene: CTU2 was added gene: CTU2 was added to Disorders of sex development. Sources: Expert Review Amber,Expert list Q2_21_rating tags were added to gene: CTU2. Mode of inheritance for gene: CTU2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CTU2 were set to 26633546; 27480277; 31301155 Phenotypes for gene: CTU2 were set to Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome, OMIM:618142