Genopathy
Gene-Disorder Association · Article
Gene
LOC105369149
Uncharacterized LOC105369149
Disorder
Charcot-Marie-Tooth Disease, Demyelinating, Type 4b2
First reported 1998
Key publication · disorder Genetic heterogeneity in autosomal recessive hereditary motor and sensory neuropathy with focally folded myelin sheaths (CMT4B).Neurology · 1998
Association Review

In brief

The association between LOC105369149 (Uncharacterized LOC105369149) and Charcot-Marie-Tooth Disease, Demyelinating, Type 4b2 is supported by expert-curated evidence, drawing on a single expert-curated source, which records pathogenic variants.

Sources 1
Clinical variants 31
Symptoms 40
Compounds 0
Trials 0
Publications 0
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

1 source

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

Request access
03
LOC105369149

The gene

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

Request access
04
Charcot-Marie-Tooth Disease, Demyelinating, Type 4b2

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

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

31 clinical variants

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

Request access
07
Provenance

References & sources

3 references

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

Request access