C1DUPP36.33 and Chromosome 1p36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant: Association Evidence

Gene-Disorder Association · Article

Gene

Chromosome 1p36.33 Duplication Syndrome, ATAD3 Gene Cluster

Disorder

Chromosome 1p36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant

First reported 2020

Key publication · disorder Recurrent De Novo NAHR Reciprocal Duplications in the ATAD3 Gene Cluster Cause a Neurogenetic Trait with Perturbed Cholesterol and Mitochondrial Metabolism.American journal of human genetics · 2020

Manually curated

Association Review

In brief

The association between C1DUPP36.33 (Chromosome 1p36.33 Duplication Syndrome, ATAD3 Gene Cluster) and Chromosome 1p36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant is a manually-curated gene–disease association, supported by a single expert-curated source.

Sources 1

Clinical variants 0

Symptoms 40

Compounds 0

Trials 0

Publications 0

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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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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Chromosome 1p36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant

The disorder

9 database identifiers

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

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Phenotype

Clinical features

18 clinical features

The disorder’s clinical features (HPO) grouped by body system, each with observed frequency and penetrance.

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Provenance

References & sources

2 references

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

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