Genopathy
Gene-Disorder Association · Article
Gene
GATAD2B
GATA Zinc Finger Domain Containing 2B
Disorder
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome
First reported 2018
Supporting publications 8
Key publication · gene–disorder Intellectual disability due to monoallelic variant in GATAD2B and mosaicism in unaffected parent.American journal of medical genetics. Part A · 2018
Key publication · disorder [The anatomist and surgeon Jan Palfijn of Gand].Bruxelles medical · 1952
Manually curated
Association Review

In brief

The association between GATAD2B (GATA Zinc Finger Domain Containing 2B) and Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome is well established and manually curated, with its 3 contributing sources — 2 of them expert-curated — recording pathogenic variants and a causative germline mutation.

Sources 3
Clinical variants 106
Symptoms 50
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.

Request access
02
Provenance

Evidence and sources

3 sources

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

Request access
03
GATAD2B

The gene

1 source summary

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

Request access
04
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome

The disorder

4 database identifiers

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

Request access
05
Phenotype

Clinical features

48 clinical features

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

Request access
06
ClinVar and variant evidence

Genetic basis

106 clinical variants

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

Request access
07
Mechanism overlap

Shared mechanisms

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

Request access
08
Literature

Reading

8 publications

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

Request access
09
Provenance

References & sources

14 references

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

Request access