Genopathy
Gene-Disorder Association · Article
Gene
CACNA1I
Calcium Voltage-Gated Channel Subunit Alpha1 I
Disorder
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures
First reported 2021
Supporting publications 1
Key publication · disorder CACNA1I gain-of-function mutations differentially affect channel gating and cause neurodevelopmental disorders.Brain : a journal of neurology · 2021
Manually curated
Association Review

In brief

The association between CACNA1I (Calcium Voltage-Gated Channel Subunit Alpha1 I) and Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures 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 34
Symptoms 38
Compounds 0
Trials 0
Publications 1
01
At a glance

Association overview

A cited synthesis of the gene–disorder association, with a clinical-actionability summary where the evidence supports one.

Request access
02
Provenance

Evidence and sources

4 sources

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

Request access
03
CACNA1I

The gene

2 source summaries

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

Request access
04
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures

The disorder

5 database identifiers

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

Request access
05
Phenotype

Clinical features

20 clinical features

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

Request access
06
ClinVar and variant evidence

Genetic basis

34 clinical variants

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

Request access
07
Mechanism overlap

Shared mechanisms

Biological pathways and phenotype concepts shared by the gene and the disorder, with supporting publications.

Request access
08
Literature

Reading

1 publication

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

Request access
09
Provenance

References & sources

8 references

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

Request access