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NM_004366.6(CLCN2):c.597dup (p.Met200fs) AND Leukoencephalopathy with mild cerebellar ataxia and white matter edema

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Sep 9, 2015
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV000201815.1

Allele description [Variation Report for NM_004366.6(CLCN2):c.597dup (p.Met200fs)]

NM_004366.6(CLCN2):c.597dup (p.Met200fs)

Gene:
CLCN2:chloride voltage-gated channel 2 [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
3q27.1
Genomic location:
Preferred name:
NM_004366.6(CLCN2):c.597dup (p.Met200fs)
HGVS:
  • NC_000003.12:g.184357982dup
  • NG_016422.1:g.8624dup
  • NM_001171087.3:c.597dup
  • NM_001171088.3:c.465dup
  • NM_001171089.3:c.597dup
  • NM_004366.6:c.597dupMANE SELECT
  • NP_001164558.1:p.Met200fs
  • NP_001164559.1:p.Met156fs
  • NP_001164560.1:p.Met200fs
  • NP_004357.3:p.Met200fs
  • NC_000003.11:g.184075770dup
  • NP_004357.3:p.Met200AspfsTer32
Protein change:
M156fs
Links:
OMIM: 600570.0001; dbSNP: rs515726131
NCBI 1000 Genomes Browser:
rs515726131
Molecular consequence:
  • NM_001171087.3:c.597dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001171088.3:c.465dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001171089.3:c.597dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_004366.6:c.597dup - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Leukoencephalopathy with mild cerebellar ataxia and white matter edema (LKPAT)
Synonyms:
Leukoencephalopathy with ataxia; Leukoencephalopathy with white matter edema; Brain white matter edema
Identifiers:
MONDO: MONDO:0014292; MedGen: C4554120; Orphanet: 363540; OMIM: 615651

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000256577GeneReviews
no assertion criteria provided
Likely pathogenic
(Sep 9, 2015) 		germlineliterature only

PubMed (1)
[See all records that cite this PMID]

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Mutations in CLCN2 encoding a voltage-gated chloride channel are associated with idiopathic generalized epilepsies.

Haug K, Warnstedt M, Alekov AK, Sander T, Ramírez A, Poser B, Maljevic S, Hebeisen S, Kubisch C, Rebstock J, Horvath S, Hallmann K, Dullinger JS, Rau B, Haverkamp F, Beyenburg S, Schulz H, Janz D, Giese B, Müller-Newen G, Propping P, Elger CE, et al.

Nat Genet. 2003 Apr;33(4):527-32. Epub 2003 Mar 3. Retraction in: Haug K, Warnstedt M, Alekov AK, Sander T, Ramírez A, Poser B, Maljevic S, Hebeisen S, Kubisch C, Rebstock J, Horvath S, Hallmann K, Dullinger JS, Rau B, Haverkamp F, Beyenburg S, Schulz H, Janz D, Giese B, Müller-Newen G, Propping P, Elger CE, Fahlke C,.

PubMed [citation]
PMID:
12612585

Details of each submission

From GeneReviews, SCV000256577.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jan 7, 2023