Genopathy
Gene-Disorder Association · Article
Gene
CZ1P-ASNS
CZ1P-ASNS Readthrough
Disorder
Asparagine Synthetase Deficiency
First reported 2013
Supporting publications 17
Key publication · gene–disorder Deficiency of asparagine synthetase causes congenital microcephaly and a progressive form of encephalopathy.Neuron · 2013
Key publication · disorder A case of progressive familial encephalopathy in infancy with calcification of the basal ganglia and chronic cerebrospinal fluid lymphocytosis.Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery · 1986
Manually curated
Association Review

In brief

The association between CZ1P-ASNS (CZ1P-ASNS Readthrough) and Asparagine Synthetase Deficiency 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 79
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
Asparagine Synthetase Deficiency

The disorder

8 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

58 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

121 clinical variants

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

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07
Literature

Reading

17 publications

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

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08
Provenance

References & sources

13 references

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

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