Genopathy
Gene-Disorder Association · Article
Gene
KCND3
Potassium Voltage-Gated Channel Subfamily D Member 3
Disorder
Spinocerebellar Ataxia 19/22
First reported 2012
Supporting publications 17
Key publication · gene–disorder Mutations in KCND3 cause spinocerebellar ataxia type 22.Annals of neurology · 2012
Key publication · disorder Clinical and genetic analysis of a four-generation family with a distinct autosomal dominant cerebellar ataxia.Journal of neurology · 2001
Manually curated
Association Review

In brief

The association between KCND3 (Potassium Voltage-Gated Channel Subfamily D Member 3) and Spinocerebellar Ataxia 19/22 is well established and manually curated, with its 3 contributing sources — 2 of them expert-curated — recording pathogenic variants and a causative germline mutation.

Sources 3
Clinical variants 316
Symptoms 23
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.

Request access
02
Provenance

Evidence and sources

3 sources

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

Request access
03
KCND3

The gene

2 source summaries

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

Request access
04
Spinocerebellar Ataxia 19/22

The disorder

7 database identifiers

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

Request access
05
Phenotype

Clinical features

19 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

316 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

17 publications

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

Request access
09
Provenance

References & sources

16 references

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

Request access