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Single allele AND Charcot-Marie-Tooth disease axonal type 2K

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Apr 13, 2018
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:
RCV000678027.2

Allele description [Variation Report for Single allele]

Genes:
  • LOC130000611:ATAC-STARR-seq lymphoblastoid active region 27534 [Gene]
  • LOC130000612:ATAC-STARR-seq lymphoblastoid active region 27535 [Gene]
  • LOC130000615:ATAC-STARR-seq lymphoblastoid active region 27538 [Gene]
  • LOC130000616:ATAC-STARR-seq lymphoblastoid active region 27539 [Gene]
  • LOC130000617:ATAC-STARR-seq lymphoblastoid active region 27540 [Gene]
  • LOC130000619:ATAC-STARR-seq lymphoblastoid active region 27541 [Gene]
  • LOC130000622:ATAC-STARR-seq lymphoblastoid active region 27542 [Gene]
  • LOC130000613:ATAC-STARR-seq lymphoblastoid silent region 19296 [Gene]
  • LOC130000614:ATAC-STARR-seq lymphoblastoid silent region 19297 [Gene]
  • LOC130000618:ATAC-STARR-seq lymphoblastoid silent region 19298 [Gene]
  • LOC130000620:ATAC-STARR-seq lymphoblastoid silent region 19299 [Gene]
  • LOC130000621:ATAC-STARR-seq lymphoblastoid silent region 19300 [Gene]
  • LOC126860420:CDK7 strongly-dependent group 2 enhancer GRCh37_chr8:75193255-75194454 [Gene]
  • LOC129390012:MPRA-validated peak7074 silencer [Gene]
  • ELOC:elongin C [Gene - OMIM - HGNC]
  • GDAP1:ganglioside induced differentiation associated protein 1 [Gene - OMIM - HGNC]
  • JPH1:junctophilin 1 [Gene - OMIM - HGNC]
  • LINC01617:long intergenic non-protein coding RNA 1617 [Gene - HGNC]
  • LY96:lymphocyte antigen 96 [Gene - OMIM - HGNC]
  • TMEM70:transmembrane protein 70 [Gene - OMIM - HGNC]
  • UBE2W:ubiquitin conjugating enzyme E2 W [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
8q21.11
Genomic location:
HGVS:
  • NC_000008.11:g.73876981_74367518del
  • NC_000008.10:g.74789216_75279753del

Condition(s)

Name:
Charcot-Marie-Tooth disease axonal type 2K
Synonyms:
CHARCOT-MARIE-TOOTH NEUROPATHY, AXONAL, TYPE 2K; Charcot-Marie-Tooth disease type 2K; Charcot-Marie-Tooth disease, axonal, autosomal recessive, Type 2K
Identifiers:
MONDO: MONDO:0011916; MedGen: C1842983; Orphanet: 99944; OMIM: 607831

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000804182Geisinger Autism and Developmental Medicine Institute, Geisinger Health System
criteria provided, single submitter

(ACMG CNV Guidelines, 2011)		Uncertain significance
(Apr 13, 2018) 		maternalprovider interpretation

PubMed (3)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedmaternalunknownnot providednot providednot providednot providednot providedprovider interpretation

Citations

PubMed

The GST domain of GDAP1 is a frequent target of mutations in the dominant form of axonal Charcot Marie Tooth type 2K.

Crimella C, Tonelli A, Airoldi G, Baschirotto C, D'Angelo MG, Bonato S, Losito L, Trabacca A, Bresolin N, Bassi MT.

J Med Genet. 2010 Oct;47(10):712-6. doi: 10.1136/jmg.2010.077909. Epub 2010 Aug 3.

PubMed [citation]
PMID:
20685671

Genetics of Charcot-Marie-Tooth disease type 4A: mutations, inheritance, phenotypic variability, and founder effect.

Claramunt R, Pedrola L, Sevilla T, López de Munain A, Berciano J, Cuesta A, Sánchez-Navarro B, Millán JM, Saifi GM, Lupski JR, Vílchez JJ, Espinós C, Palau F.

J Med Genet. 2005 Apr;42(4):358-65. No abstract available.

PubMed [citation]
PMID:
15805163
PMCID:
PMC1736030
See all PubMed Citations (3)

Details of each submission

From Geisinger Autism and Developmental Medicine Institute, Geisinger Health System, SCV000804182.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedprovider interpretation PubMed (3)

Description

This deletion was identified in a 3 year old female with receptive-expressive language disorder, premature birth, hypotonia, poor feeding, posteriorly rotated ears, and up-slanting palpebral fissures, and is maternally inherited. This deletion includes six genes, including TMEM70, GDAP1, and JPH1. Individuals with single variants in TMEM70 are typically asymptomatic carriers for mitochondrial complex V deficiency. GADP1 and JPH1 have been described to cause an autosomal dominant Charcot-Marie-Tooth disease type 2K with muscle weakness and atrophy. Patient's mother reportedly has similar facial features and short stature, though no muscle concerns reported. The clinical significance of this deletion remains unclear at this time.

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

Last Updated: Oct 14, 2023