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NC_000001.11:g.161305808_161309983dup AND Charcot-Marie-Tooth disease type 1B

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Sep 17, 2015
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000235059.1

Allele description [Variation Report for NC_000001.11:g.161305808_161309983dup]

NC_000001.11:g.161305808_161309983dup

Gene:
MPZ:myelin protein zero [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
1q23.3
Genomic location:
Preferred name:
NC_000001.11:g.161305808_161309983dup
HGVS:
  • NC_000001.11:g.161305808_161309983dup
  • NG_008055.1:g.4990_9165dup
  • LRG_256:g.4990_9165dup
  • NC_000001.10:g.161275598_161279773dup

Condition(s)

Name:
Charcot-Marie-Tooth disease type 1B
Synonyms:
CHARCOT-MARIE-TOOTH DISEASE, AUTOSOMAL DOMINANT, WITH FOCALLY FOLDED MYELIN SHEATHS, TYPE 1B; CHARCOT-MARIE-TOOTH DISEASE, SLOW NERVE CONDUCTION TYPE, LINKED TO DUFFY; CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 1B; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0007307; MedGen: C0270912; Orphanet: 101082; OMIM: 118200

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000292312Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine
criteria provided, single submitter

(Pehlivan et al. (Genet Med. 2016))
Likely pathogenic
(Sep 17, 2015)
germlineresearch

PubMed (2)
[See all records that cite these PMIDs]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedresearch

Citations

PubMed

Charcot-Marie-Tooth caused by a copy number variation in myelin protein zero.

Høyer H, Braathen GJ, Eek AK, Skjelbred CF, Russell MB.

Eur J Med Genet. 2011 Nov-Dec;54(6):e580-3. doi: 10.1016/j.ejmg.2011.06.006. Epub 2011 Jul 18.

PubMed [citation]
PMID:
21787890

The role of combined SNV and CNV burden in patients with distal symmetric polyneuropathy.

Pehlivan D, Beck CR, Okamoto Y, Harel T, Akdemir ZH, Jhangiani SN, Withers MA, Goksungur MT, Carvalho CM, Czesnik D, Gonzaga-Jauregui C, Wiszniewski W, Muzny DM, Gibbs RA, Rautenstrauss B, Sereda MW, Lupski JR.

Genet Med. 2016 May;18(5):443-51. doi: 10.1038/gim.2015.124. Epub 2015 Sep 17.

PubMed [citation]
PMID:
26378787
PMCID:
PMC5322766

Details of each submission

From Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine, SCV000292312.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearch PubMed (2)

Description

This duplication was identified in a patient with peripheral neuropathy. There is a report in the literature of MPZ duplication in an individual with peripheral neuropathy (PMID:21787890).

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 7, 2023