Genopathy
Gene-Disorder Association · Article
Gene
PNKP
Polynucleotide Kinase 3'-Phosphatase
Disorder
Charcot-Marie-Tooth Disease Type 2b2
First reported 2001
Supporting publications 4
Key publication · gene–disorder A second locus for an axonal form of autosomal recessive Charcot-Marie-Tooth disease maps to chromosome 19q13.3.American journal of human genetics · 2001
Manually curated
Association Review

In brief

The association between PNKP (Polynucleotide Kinase 3'-Phosphatase) and Charcot-Marie-Tooth Disease Type 2b2 is well established and manually curated, with its 3 contributing sources — 2 of them expert-curated — recording likely-pathogenic variants and a causative germline mutation.

Sources 3
Clinical variants 20
Symptoms 0
Compounds 0
Trials 0
Publications 4
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
PNKP

The gene

1 source summary

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

Request access
04
Charcot-Marie-Tooth Disease Type 2b2

The disorder

7 database identifiers

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

Request access
05
ClinVar and variant evidence

Genetic basis

20 clinical variants

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

Request access
06
Literature

Reading

4 publications

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

Request access
07
Provenance

References & sources

9 references

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

Request access