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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000292312	Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine	criteria provided, single submitter (Pehlivan et al. (Genet Med. 2016))	Likely pathogenic (Sep 17, 2015)	germline	research	PubMed (2) [See all records that cite these PMIDs] 21787890, 26378787

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000292312

Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine

criteria provided, single submitter

(Pehlivan et al. (Genet Med. 2016))

Likely pathogenic
(Sep 17, 2015)

germline

research

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	research

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

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	research	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).

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Oct 7, 2023

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