Genopathy
Gene-Disorder Association · Article
Gene
LOC130003148
ATAC-STARR-Seq Lymphoblastoid Active Region 29369
Disorder
Kleefstra Syndrome 1
First reported 2006
Key publication · gene–disorder Loss-of-function mutations in euchromatin histone methyl transferase 1 (EHMT1) cause the 9q34 subtelomeric deletion syndrome.American journal of human genetics · 2006
Key publication · disorder Three cases of partial trisomy 9q in one generation due to maternal reciprocal t(6;8;9) translocation.Clinical genetics · 1987
Manually curated
Association Review

In brief

The association between LOC130003148 (ATAC-STARR-Seq Lymphoblastoid Active Region 29369) and Kleefstra Syndrome 1 is well established and manually curated, drawing on a single expert-curated source, which records pathogenic variants.

Sources 1
Clinical variants 32
Symptoms 134
Compounds 0
Trials 0
Publications 0
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

1 source

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

Request access
03
LOC130003148

The gene

1 source summary

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

Request access
04
Kleefstra Syndrome 1

The disorder

14 database identifiers

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

Request access
05
Phenotype

Clinical features

117 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

32 clinical variants

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

Request access
07
Provenance

References & sources

7 references

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

Request access