Genopathy
Gene-Disorder Association · Article
Gene
ATP6AP2
ATPase H+ Transporting Accessory Protein 2
Disorder
Syndromic X-Linked Intellectual Disability Hedera Type
First reported 2002
Supporting publications 4
Key publication · disorder Novel mental retardation-epilepsy syndrome linked to Xp21.1-p11.4.Annals of neurology · 2002
Manually curated
Association Review

In brief

The association between ATP6AP2 (ATPase H+ Transporting Accessory Protein 2) and Syndromic X-Linked Intellectual Disability Hedera Type 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 173
Symptoms 33
Compounds 0
Trials 0
Publications 4
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
ATP6AP2

The gene

1 source summary

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

Request access
04
Syndromic X-Linked Intellectual Disability Hedera Type

The disorder

9 database identifiers

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

Request access
05
Phenotype

Clinical features

31 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

173 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

4 publications

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

Request access
09
Provenance

References & sources

11 references

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

Request access