Genopathy
Gene-Disorder Association · Article
Gene
LRSAM1
Leucine Rich Repeat And Sterile Alpha Motif Containing 1
Disorder
Charcot-Marie-Tooth Disease, Axonal, Type 2p
First reported 2004
Supporting publications 29
Key publication · gene–disorder Autosomal dominant axonal Charcot-Marie-Tooth disease type 2 (CMT2G) maps to chromosome 12q12-q13.3.Journal of medical genetics · 2004
Key publication · disorder Hereditary motor and sensory neuropathy type II. Clinicopathological study of a family.Brain : a journal of neurology · 1986
Manually curated
Association Review

In brief

The association between LRSAM1 (Leucine Rich Repeat And Sterile Alpha Motif Containing 1) and Charcot-Marie-Tooth Disease, Axonal, Type 2p is well established and manually curated, with its 5 contributing sources — 4 of them expert-curated — recording a known molecular basis, pathogenic and likely-pathogenic variants, and a causative germline mutation.

Sources 5
Clinical variants 792
Symptoms 33
Compounds 0
Trials 0
Publications 29
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
LRSAM1

The gene

1 source summary

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

Request access
04
Charcot-Marie-Tooth Disease, Axonal, Type 2p

The disorder

11 database identifiers

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

Request access
05
Phenotype

Clinical features

16 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

792 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

29 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