Genopathy
Gene-Disorder Association · Article
Gene
TRAF7
TNF Receptor Associated Factor 7
Disorder
Cardiac, Facial, And Digital Anomalies With Developmental Delay
First reported 2020
Supporting publications 4
Key publication · gene–disorder Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7.Genetics in medicine : official journal of the American College of Medical Genetics · 2020
Key publication · disorder CHARGE association with choanal atresia and inner ear hypoplasia in a child with a de novo chromosome translocation t(2;7)(p14;q21.11).American journal of medical genetics · 2001
Manually curated
Association Review

In brief

The association between TRAF7 (TNF Receptor Associated Factor 7) and Cardiac, Facial, And Digital Anomalies With Developmental Delay is well established and manually curated, with its 4 contributing sources — 3 of them expert-curated — recording a known molecular basis, likely-pathogenic variants, and causative variation.

Sources 4
Clinical variants 38
Symptoms 96
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.

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02
Provenance

Evidence and sources

4 sources

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

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03
TRAF7

The gene

1 source summary

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

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04
Cardiac, Facial, And Digital Anomalies With Developmental Delay

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

70 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

38 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

4 publications

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

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09
Provenance

References & sources

10 references

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

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