NM_004562.2:c.735-?_871+?del AND Parkinson disease 2

Clinical significance:Pathogenic (Last evaluated: Dec 19, 2013)

Review status:(1/4)1 star out of maximum of 4 stars

classified by single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000007461.4

Allele description [Variation Report for NM_004562.2:c.735-?_871+?del]

Gene:
PARK2:parkin RBR E3 ubiquitin protein ligase [Gene - OMIM]
Variant type:
Deletion
Cytogenetic location:
6q25.2-q27
HGVS:
  • NC_000006.12:g.(?_161785772)_(161785908_?)del
  • NG_008289.1:g.(?_946895)_(947031_?)del
  • NM_004562.2:c.735-?_871+?del
  • NC_000006.11:g.(?_162206804)_(162206940_?)del
  • NM_004562.2:c.735+(?_0)_871+(0_?)del137
Nucleotide change:
EX7DEL
Links:
OMIM: 602544.0010
Molecular consequence:
  • NM_013987.2:c.(?_651)_(787_?)del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Parkinson disease 2 (PARK2)
Synonyms:
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE; Parkin Type of Juvenile Parkinson Disease; Parkin Type of Early-Onset Parkinson Disease
Identifiers:
GeneReviews: NBK1478; MedGen: C1868675; OMIM: 600116; Orphanet: 2828
Age of onset:
Adulthood
Prevalence:
1-5 / 10 000 2828

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Assertion and evidence details

Submission AccessionSubmitterReview StatusClinical Significance
(Last evaluated)
OriginMethodConsequenceCitations
SCV000027661OMIMPathogenic
(Dec 19, 2013)
germlineliterature only

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

Summary from all submissions

EthnicityOriginAffectedAlleles observedFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

The importance of gene dosage studies: mutational analysis of the parkin gene in early-onset parkinsonism.

Hedrich K, Kann M, Lanthaler AJ, Dalski A, Eskelson C, Landt O, Schwinger E, Vieregge P, Lang AE, Breakefield XO, Ozelius LJ, Pramstaller PP, Klein C.

Hum Mol Genet. 2001 Aug 1;10(16):1649-56.

PubMed [citation]
PMID:
11487568

Parkin deletions in a family with adult-onset, tremor-dominant parkinsonism: expanding the phenotype.

Klein C, Pramstaller PP, Kis B, Page CC, Kann M, Leung J, Woodward H, Castellan CC, Scherer M, Vieregge P, Breakefield XO, Kramer PL, Ozelius LJ.

Ann Neurol. 2000 Jul;48(1):65-71.

PubMed [citation]
PMID:
10894217
See all PubMed Citations (3)

Details of each submission

From OMIM, SCV000027661.3

#EthnicityAlleles ObservedChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (3)

Description

In a man with onset of Parkinson disease (600116) at age 38 years, Hedrich et al. (2001) found homozygosity for 2 mutations: deletion of exon 7 as well as a C-to-A transversion at nucleotide 346 in exon 3, resulting in an ala82-to-glu substitution (602544.0011).

In 4 male sibs with Parkinson disease, Klein et al. (2000) and Pramstaller et al. (2005) identified compound heterozygosity for 2 deletions in the PARK2 gene: a deletion of exon 7 and a 1-bp deletion (1072delT) in exon 9 (602544.0019). The family was a large 7-generation kindred that originated from South Tyrol in northern Italy. Among a total of 25 family members with PD, 4 were heterozygous for the exon 7 deletion, and 4 were heterozygous for 1072delT. Pramstaller et al. (2005) concluded that heterozygous mutations in the PARK2 gene contribute to late-onset PD.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodVariant allelesAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jun 27, 2014

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