Genopathy
Gene-Disorder Association · Article
Gene
ATRX
ATRX Chromatin Remodeler
Disorder
Alpha Thalassemia-X-Linked Intellectual Disability Syndrome
First reported 1995
Supporting publications 50
Key publication · gene–disorder Mutations in a putative global transcriptional regulator cause X-linked mental retardation with alpha-thalassemia (ATR-X syndrome).Cell · 1995
Key publication · disorder RNA splice junctions of different classes of eukaryotes: sequence statistics and functional implications in gene expression.Nucleic acids research · 1987
Manually curated
Association Review

In brief

The association between ATRX (ATRX Chromatin Remodeler) and Alpha Thalassemia-X-Linked Intellectual Disability 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 2,057
Symptoms 68
Compounds 0
Trials 0
Publications 50
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
ATRX

The gene

1 source summary

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

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04
Alpha Thalassemia-X-Linked Intellectual Disability Syndrome

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

65 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

2,057 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

50 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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