CMTX3

Chr XXLR

Charcot-Marie-Tooth neuropathy, X-linked 3 (dominant)

NCBI Gene: 1254

Primary Disease Associations & Inheritance

Charcot-Marie-Tooth neuropathy, X-linked recessive, 3MIM #302802
XLR
0
ClinVar variants
0
Pathogenic / LP
—
pLI score
0
Active trials
Clinical Summary— CMTX3
Some data sources returned errors (2)

ensembl: Error: Ensembl fetch failed: 400 for https://rest.ensembl.org/lookup/symbol/homo_sapiens/CMTX3?content-type=application/json&expand=1

gnomad: Error: Gene not found

Population Genetics & Constraint

gnomAD

Constraint data not available from gnomAD.

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

CMTX3 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

OMIM — Genotype-Phenotype Relationships

1 OMIM entry

OMIM

Charcot-Marie-Tooth neuropathy, X-linked recessive, 3

MIM #302802

Contiguous gene syndrome

X-linked recessive
Clinical Literature
Landmark / reviewRecent case evidence
Key Publications
Landmark & review papers · by relevance
PubMed
Genotypes & sensory phenotypes in 2 new X-linked neuropathies (CMTX3 and dSMAX) and dominant CMT/HMN overlap syndromes.
Nicholson G et al.·Adv Exp Med Biol
2009Review
Unique clinical and neurophysiologic profile of a cohort of children with CMTX3.
Kanhangad M et al.·Neurology
2018Cohort
Optical Genome Mapping Identifies a Second Xq27.1 Rearrangement Associated With Charcot-Marie-Tooth Neuropathy CMTX3.
Rahikkala E et al.·Mol Genet Genomic Med
2024Case report
Proof of genetic heterogeneity in X-linked Charcot-Marie-Tooth disease.
Huttner IG et al.·Neurology
2006
Development and validation of the Charcot-Marie-Tooth Disease Infant Scale.
Mandarakas MR et al.·Brain
2018
Charcot-Marie-Tooth neuropathies: from clinical description to molecular genetics.
Ionasescu VV·Muscle Nerve
1995Review
Whole Genome Sequencing Identifies a 78 kb Insertion from Chromosome 8 as the Cause of Charcot-Marie-Tooth Neuropathy CMTX3.
Brewer MH et al.·PLoS Genet
2016
Evidence of a founder haplotype refines the X-linked Charcot-Marie-Tooth (CMTX3) locus to a 2.5 Mb region.
Brewer M et al.·Neurogenetics
2008
Re-analysis of an original CMTX3 family using exome sequencing identifies a known BSCL2 mutation.
Chaudhry R et al.·Muscle Nerve
2013
Top 10 resultsSearch PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Top 5 resultsSearch Europe PMC ↗

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

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External Resources

Links to major genomics databases and tools