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NC_000020.10:g.(?_61977556)_(62562941_?)del AND Early infantile epileptic encephalopathy with suppression bursts

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Nov 22, 2019
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:
RCV001031161.10

Allele description [Variation Report for NC_000020.10:g.(?_61977556)_(62562941_?)del]

NC_000020.10:g.(?_61977556)_(62562941_?)del

Genes:
  • ARFRP1:ARF related protein 1 [Gene - OMIM - HGNC]
  • DNAJC5:DnaJ heat shock protein family (Hsp40) member C5 [Gene - OMIM - HGNC]
  • LIME1:Lck interacting transmembrane adaptor 1 [Gene - OMIM - HGNC]
  • SLC2A4RG:SLC2A4 regulator [Gene - OMIM - HGNC]
  • TNFRSF6B:TNF receptor superfamily member 6b [Gene - OMIM - HGNC]
  • TPD52L2:TPD52 like 2 [Gene - OMIM - HGNC]
  • ABHD16B:abhydrolase domain containing 16B [Gene - OMIM - HGNC]
  • CHRNA4:cholinergic receptor nicotinic alpha 4 subunit [Gene - OMIM - HGNC]
  • EEF1A2:eukaryotic translation elongation factor 1 alpha 2 [Gene - OMIM - HGNC]
  • FNDC11:fibronectin type III domain containing 11 [Gene - HGNC]
  • GMEB2:glucocorticoid modulatory element binding protein 2 [Gene - OMIM - HGNC]
  • HELZ2:helicase with zinc finger 2 [Gene - OMIM - HGNC]
  • PPDPF:pancreatic progenitor cell differentiation and proliferation factor [Gene - HGNC]
  • KCNQ2:potassium voltage-gated channel subfamily Q member 2 [Gene - OMIM - HGNC]
  • PTK6:protein tyrosine kinase 6 [Gene - OMIM - HGNC]
  • RTEL1:regulator of telomere elongation helicase 1 [Gene - OMIM - HGNC]
  • SRMS:src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites [Gene - OMIM - HGNC]
  • STMN3:stathmin 3 [Gene - OMIM - HGNC]
  • ZGPAT:zinc finger CCCH-type and G-patch domain containing [Gene - OMIM - HGNC]
  • ZBTB46:zinc finger and BTB domain containing 46 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
20q13.33
Genomic location:
Chr20: 61977556 - 62562941 (on Assembly GRCh37)
Preferred name:
NC_000020.10:g.(?_61977556)_(62562941_?)del
HGVS:
NC_000020.10:g.(?_61977556)_(62562941_?)del

Condition(s)

Name:
Early infantile epileptic encephalopathy with suppression bursts (EIEE)
Synonyms:
Early infantile epileptic encephalopathy; Ohtahara syndrome; Developmental and epileptic encephalopathy
Identifiers:
MONDO: MONDO:0100062; MedGen: C0393706; Orphanet: 1934; OMIM: PS308350

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001194467Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Pathogenic
(Nov 22, 2019) 		germlineclinical testing

PubMed (6)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

The variable phenotypes of KCNQ-related epilepsy.

Allen NM, Mannion M, Conroy J, Lynch SA, Shahwan A, Lynch B, King MD.

Epilepsia. 2014 Sep;55(9):e99-105. doi: 10.1111/epi.12715. Epub 2014 Jul 22.

PubMed [citation]
PMID:
25052858

Genetic testing in benign familial epilepsies of the first year of life: clinical and diagnostic significance.

Zara F, Specchio N, Striano P, Robbiano A, Gennaro E, Paravidino R, Vanni N, Beccaria F, Capovilla G, Bianchi A, Caffi L, Cardilli V, Darra F, Bernardina BD, Fusco L, Gaggero R, Giordano L, Guerrini R, Incorpora G, Mastrangelo M, Spaccini L, Laverda AM, et al.

Epilepsia. 2013 Mar;54(3):425-36. doi: 10.1111/epi.12089. Epub 2013 Jan 29.

PubMed [citation]
PMID:
23360469
See all PubMed Citations (6)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV001194467.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (6)

Description

A gross deletion of the genomic region encompassing the full coding sequence of the KCNQ2 gene has been identified. The boundaries of this event are unknown as the deletion extends beyond the assayed region for this gene and therefore may encompass additional genes. Isolated whole-gene deletions of KCNQ2 have not been reported in the literature. However, larger copy number events that include this gene have been reported in individuals affected with epilepsy and benign neonatal seizures (PMID: 24811917, 23360469, 19822871, 29215089, 25052858). Loss-of-function variants in KCNQ2 are known to be pathogenic (PMID: 14534157, 23692823, 25951140, 25959266, 26758118, 27779742). For these reasons, this variant has been classified as Pathogenic.

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

Last Updated: Nov 24, 2024