Genopathy
Gene-Disorder Association · Article
Gene
CZ1P-ASNS
CZ1P-ASNS Readthrough
Disorder
Congenital Microcephaly - Severe Encephalopathy - Progressive Cerebral Atrophy Syndrome
First reported 2017
Supporting publications 17
Key publication · gene–disorder Diaphragmatic Eventration in Sisters with Asparagine Synthetase Deficiency: A Novel Homozygous ASNS Mutation and Expanded Phenotype.JIMD reports · 2017
Key publication · disorder Deficiency of asparagine synthetase causes congenital microcephaly and a progressive form of encephalopathy.Neuron · 2013
Manually curated
Association Review

In brief

The association between CZ1P-ASNS (CZ1P-ASNS Readthrough) and Congenital Microcephaly - Severe Encephalopathy - Progressive Cerebral Atrophy Syndrome is well established and manually curated, drawing on a single expert-curated source, which records pathogenic and likely-pathogenic variants.

Sources 1
Clinical variants 121
Symptoms 3
Compounds 0
Trials 0
Publications 17
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
CZ1P-ASNS

The gene

1 source summary

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

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04
Congenital Microcephaly - Severe Encephalopathy - Progressive Cerebral Atrophy Syndrome

The disorder

4 database identifiers

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

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05
ClinVar and variant evidence

Genetic basis

121 clinical variants

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

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06
Literature

Reading

17 publications

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

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07
Provenance

References & sources

12 references

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

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