Genopathy
Gene-Disorder Association · Article
Gene
SLC12A6
Solute Carrier Family 12 Member 6
Disorder
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
First reported 2002
Supporting publications 18
Key publication · gene–disorder The K-Cl cotransporter KCC3 is mutant in a severe peripheral neuropathy associated with agenesis of the corpus callosum.Nature genetics · 2002
Key publication · disorder Agenesis of the corpus callosum; a report of two cases in siblings.A.M.A. archives of neurology and psychiatry · 1955
Manually curated
Association Review

In brief

The association between SLC12A6 (Solute Carrier Family 12 Member 6) and Agenesis Of The Corpus Callosum With Peripheral Neuropathy is well established and manually curated, with its 5 contributing sources — 4 of them expert-curated — recording a known molecular basis, pathogenic variants, and a causative germline mutation.

Sources 5
Clinical variants 406
Symptoms 100
Compounds 0
Trials 0
Publications 18
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

5 sources

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

Request access
03
SLC12A6

The gene

1 source summary

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

Request access
04
Agenesis Of The Corpus Callosum With Peripheral Neuropathy

The disorder

10 database identifiers

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

Request access
05
Phenotype

Clinical features

64 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

406 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

18 publications

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

Request access
09
Provenance

References & sources

17 references

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

Request access