• not current

NM_172107.3(KCNQ2):c.523G>C (p.Val175Leu) AND Early infantile epileptic encephalopathy 7

Clinical significance:Pathogenic (Last evaluated: Mar 31, 2016)

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:
RCV000408665.1

Allele description

NM_172107.3(KCNQ2):c.523G>C (p.Val175Leu)

Gene:
KCNQ2:potassium voltage-gated channel subfamily Q member 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
20q13.33
Genomic location:
Preferred name:
NM_172107.3(KCNQ2):c.523G>C (p.Val175Leu)
HGVS:
  • NC_000020.11:g.63444826C>G
  • NG_009004.2:g.32815G>C
  • NM_172107.3:c.523G>C
  • NP_742105.1:p.Val175Leu
  • NC_000020.10:g.62076179C>G
  • NM_172107.2:c.523G>C
Protein change:
V175L
Links:
dbSNP: rs1057516082
NCBI 1000 Genomes Browser:
rs1057516082
Molecular consequence:
  • NM_172107.3:c.523G>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Early infantile epileptic encephalopathy 7 (EIEE7)
Synonyms:
KCNQ2-Related Neonatal Epileptic Encephalopathy
Identifiers:
MedGen: C3150986; Orphanet: 439218; OMIM: 613720

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000484559GeneReviewsno assertion criteria providedPathogenic
(Mar 31, 2016)
germlineliterature only

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

Citation Link

Summary from all submissions

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

Citations

PubMed

Myoclonic epilepsy evolved into West syndrome: a patient with a novel de novo KCNQ2 mutation.

Samanta D, Ramakrishnaiah R, Willis E, Frye RE.

Acta Neurol Belg. 2015 Sep;115(3):475-8. doi: 10.1007/s13760-014-0344-5. Epub 2014 Aug 5. No abstract available.

PubMed [citation]
PMID:
25092550

Similar early characteristics but variable neurological outcome of patients with a de novo mutation of KCNQ2.

Milh M, Boutry-Kryza N, Sutera-Sardo J, Mignot C, Auvin S, Lacoste C, Villeneuve N, Roubertie A, Heron B, Carneiro M, Kaminska A, Altuzarra C, Blanchard G, Ville D, Barthez MA, Heron D, Gras D, Afenjar A, Dorison N, Doummar D, Billette de Villemeur T, An I, et al.

Orphanet J Rare Dis. 2013 May 22;8:80. doi: 10.1186/1750-1172-8-80.

PubMed [citation]
PMID:
23692823
PMCID:
PMC3670812

Details of each submission

From GeneReviews, SCV000484559.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (2)

Description

Infantile spasms

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

Last Updated: Jan 24, 2018