Genopathy
Gene-Disorder Association · Article
Gene
LOC130003135
ATAC-STARR-Seq Lymphoblastoid Silent Region 20636
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 LOC130003135 (ATAC-STARR-Seq Lymphoblastoid Silent Region 20636) and Kleefstra Syndrome 1 is well established and manually curated, drawing on a single expert-curated source, which records likely-pathogenic variants.

Sources 1
Clinical variants 51
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.

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02
Provenance

Evidence and sources

1 source

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

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03
LOC130003135

The gene

1 source summary

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

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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).

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05
Phenotype

Clinical features

117 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

51 clinical variants

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

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07
Provenance

References & sources

7 references

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

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