GRCh37/hg19 12p11.21(chr12:32717818-32778686)x4 AND Charcot-Marie-Tooth disease, type 4H

Clinical significance:Likely pathogenic (Last evaluated: Nov 7, 2018)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000735276.1

Allele description [Variation Report for GRCh37/hg19 12p11.21(chr12:32717818-32778686)x4]

GRCh37/hg19 12p11.21(chr12:32717818-32778686)x4

Gene:
FGD4:FYVE, RhoGEF and PH domain containing 4 [Gene - OMIM - HGNC]
Variant type:
copy number gain
Cytogenetic location:
12p11.21
Genomic location:
Chr12: 32711272 - 32788014 (on Assembly GRCh37)
Preferred name:
GRCh37/hg19 12p11.21(chr12:32717818-32778686)x4
HGVS:
    Functional consequence:
    probably has functional consequence
    Observations:
    1

    Condition(s)

    Name:
    Charcot-Marie-Tooth disease, type 4H (CMT4H)
    Synonyms:
    CHARCOT-MARIE-TOOTH DISEASE, AUTOSOMAL RECESSIVE, TYPE 4H; CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, AUTOSOMAL RECESSIVE, TYPE 4H; Charcot-Marie-Tooth Neuropathy Type 4H
    Identifiers:
    MONDO: MONDO:0012250; MedGen: C1836336; Orphanet: 99954; OMIM: 609311

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    Assertion and evidence details

    Submission AccessionSubmitterReview Status
    (Assertion method)
    Clinical Significance
    (Last evaluated)
    OriginMethodCitations
    SCV000851996Service de genetique medicale, Pr. Levy,Hopital de La Timone Enfants, APHMno assertion criteria providedLikely pathogenic
    (Nov 7, 2018)
    inheritedclinical testing

    Summary from all submissions

    EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
    not providedinheritedyes1not providednot providednot providednot providedclinical testing

    Details of each submission

    From Service de genetique medicale, Pr. Levy,Hopital de La Timone Enfants, APHM, SCV000851996.1

    #EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
    11not providednot providedclinical testingnot provided

    Description

    Pathogenic variants reported in FGD4 gene, homozygote or compound heterozygote, lead to truncated or absent protein causative for a demyelinating neuropathy (Dohrn MF et al, J Neurochem. 2017 Dec;143(5):507-522; Hyun YS et al, Ann Hum Genet. 2015 Nov;79(6):460-9). arrayCGH revealed an homozygote intragenic duplication, inherited from both heterozygote parents, with a probable deleterious effect on gene expression of the two alleles. This CNV gain have been suspected on read depth based analysis of high throughput sequencing data. Moreover, no SNV has been retained as pathogenic. Phenotype is consistent with FGD4-associated neuropathy.

    #SampleMethodObservation
    OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
    1inheritedyesnot providednot providednot provided1not providednot providednot provided

    Last Updated: Apr 17, 2020

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