Genopathy
Gene-Disorder Association · Article
Gene
CIZ1
CDKN1A Interacting Zinc Finger Protein 1
Disorder
Developmental And Epileptic Encephalopathy 31a
First reported 2022
Supporting publications 7
Key publication · gene–disorder Loss-of-function variants in DNM1 cause a specific form of developmental and epileptic encephalopathy only in biallelic state.Journal of medical genetics · 2022
Key publication · disorder Genetic and developmental influences on susceptibility to epilepsy: evidence from twins.Paediatric and perinatal epidemiology · 1992
Manually curated
Association Review

In brief

The association between CIZ1 (CDKN1A Interacting Zinc Finger Protein 1) and Developmental And Epileptic Encephalopathy 31a is well established and manually curated, drawing on a single expert-curated source, which records pathogenic and likely-pathogenic variants.

Sources 1
Clinical variants 40
Symptoms 32
Compounds 0
Trials 0
Publications 7
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
CIZ1

The gene

1 source summary

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

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04
Developmental And Epileptic Encephalopathy 31a

The disorder

7 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

20 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

40 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

7 publications

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

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09
Provenance

References & sources

11 references

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

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