Genopathy
Gene-Disorder Association · Article
Gene
ZBTB18
Zinc Finger And BTB Domain Containing 18
Disorder
Intellectual Developmental Disorder, Autosomal Dominant 22
First reported 2017
Supporting publications 8
Key publication · gene–disorder Further evidence that de novo missense and truncating variants in ZBTB18 cause intellectual disability with variable features.Clinical genetics · 2017
Key publication · disorder Deletion of the distal long arm of chromosome 1: a definable syndrome.American journal of medical genetics · 1985
Manually curated
Association Review

In brief

The association between ZBTB18 (Zinc Finger And BTB Domain Containing 18) and Intellectual Developmental Disorder, Autosomal Dominant 22 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 69
Symptoms 51
Compounds 0
Trials 0
Publications 8
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
ZBTB18

The gene

1 source summary

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

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04
Intellectual Developmental Disorder, Autosomal Dominant 22

The disorder

7 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

38 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

69 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

8 publications

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

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09
Provenance

References & sources

14 references

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

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