Genopathy
Gene-Disorder Association · Article
Gene
SRCAP
Snf2 Related CREBBP Activator Protein
Disorder
Developmental Delay, Hypotonia, Musculoskeletal Defects, And Behavioral Abnormalities
First reported 2021
Supporting publications 1
Key publication · gene–disorder Truncating SRCAP variants outside the Floating-Harbor syndrome locus cause a distinct neurodevelopmental disorder with a specific DNA methylation signature.American journal of human genetics · 2021
Key publication · disorder The Koolen-de Vries syndrome: a phenotypic comparison of patients with a 17q21.31 microdeletion versus a KANSL1 sequence variant.European journal of human genetics : EJHG · 2016
Manually curated
Association Review

In brief

The association between SRCAP (Snf2 Related CREBBP Activator Protein) and Developmental Delay, Hypotonia, Musculoskeletal Defects, And Behavioral Abnormalities is well established and manually curated, with its 2 contributing sources — 2 of them expert-curated — recording a known molecular basis and pathogenic variants.

Sources 2
Clinical variants 472
Symptoms 55
Compounds 0
Trials 0
Publications 1
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

2 sources

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

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03
SRCAP

The gene

1 source summary

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

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04
Developmental Delay, Hypotonia, Musculoskeletal Defects, And Behavioral Abnormalities

The disorder

5 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

30 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

472 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

1 publication

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

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09
Provenance

References & sources

5 references

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

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