Genopathy
Gene-Disorder Association · Article
Gene
CTU2
Cytosolic Thiouridylase Subunit 2
Disorder
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
First reported 2016
Supporting publications 2
Key publication · disorder Accelerating matchmaking of novel dysmorphology syndromes through clinical and genomic characterization of a large cohort.Genetics in medicine : official journal of the American College of Medical Genetics · 2016
Manually curated
Association Review

In brief

The association between CTU2 (Cytosolic Thiouridylase Subunit 2) and Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome is well established and manually curated, with its 3 contributing sources — 2 of them expert-curated — recording a known molecular basis and pathogenic and likely-pathogenic variants.

Sources 3
Clinical variants 24
Symptoms 51
Compounds 0
Trials 0
Publications 2
01
At a glance

Association overview

A cited synthesis of the gene–disorder association, with a clinical-actionability summary where the evidence supports one.

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02
Provenance

Evidence and sources

3 sources

Every contributing database and publication behind this association, with evidence type, strength, accessions and deep links.

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03
CTU2

The gene

1 source summary

A gene summary alongside the source descriptions it was distilled from.

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04
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome

The disorder

5 database identifiers

The disorder’s summary, prevalence, aliases and cross-reference identifiers (OMIM, Orphanet, MONDO, ICD-10, MedGen).

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05
Phenotype

Clinical features

33 clinical features

The disorder’s clinical features (HPO) grouped by body system, each with observed frequency and penetrance.

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06
ClinVar and variant evidence

Genetic basis

24 clinical variants

ClinVar variants reported for this pair, with disorder-specific significance, review status, molecular consequence and origin.

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07
Mechanism overlap

Shared mechanisms

Biological pathways and phenotype concepts shared by the gene and the disorder, with supporting publications.

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08
Literature

Reading

2 publications

Publications linking the gene and the disorder, with title, authors, journal, year and citation metrics.

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09
Provenance

References & sources

7 references

Every source and publication cited across this dossier, as one numbered reference list.

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