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GRCh37/hg19 19q13.11-13.12(chr19:35111811-37744992) AND Generalized epilepsy with febrile seizures plus, type 1

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Nov 1, 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:
RCV000767768.1

Allele description [Variation Report for GRCh37/hg19 19q13.11-13.12(chr19:35111811-37744992)]

GRCh37/hg19 19q13.11-13.12(chr19:35111811-37744992)

Genes:
  • ATP4A:ATPase H+/K+ transporting subunit alpha [Gene - OMIM - HGNC]
  • CLIP3:CAP-Gly domain containing linker protein 3 [Gene - OMIM - HGNC]
  • CD22:CD22 molecule [Gene - OMIM - HGNC]
  • ETV2:ETS variant transcription factor 2 [Gene - OMIM - HGNC]
  • FXYD1:FXYD domain containing ion transport regulator 1 [Gene - OMIM - HGNC]
  • FXYD3:FXYD domain containing ion transport regulator 3 [Gene - OMIM - HGNC]
  • FXYD5:FXYD domain containing ion transport regulator 5 [Gene - OMIM - HGNC]
  • FXYD7:FXYD domain containing ion transport regulator 7 [Gene - OMIM - HGNC]
  • GPR42:G protein-coupled receptor 42 [Gene - OMIM - HGNC]
  • GRAMD1A:GRAM domain containing 1A [Gene - HGNC]
  • HAUS5:HAUS augmin like complex subunit 5 [Gene - OMIM - HGNC]
  • IGFLR1:IGF like family receptor 1 [Gene - OMIM - HGNC]
  • NFKBID:NFKB inhibitor delta [Gene - OMIM - HGNC]
  • NPHS1:NPHS1 adhesion molecule, nephrin [Gene - OMIM - HGNC]
  • RBM42:RNA binding motif protein 42 [Gene - OMIM - HGNC]
  • POLR2I:RNA polymerase II subunit I [Gene - OMIM - HGNC]
  • ARHGAP33:Rho GTPase activating protein 33 [Gene - OMIM - HGNC]
  • THAP8:THAP domain containing 8 [Gene - OMIM - HGNC]
  • U2AF1L4:U2 small nuclear RNA auxiliary factor 1 like 4 [Gene - OMIM - HGNC]
  • WDR62:WD repeat domain 62 [Gene - OMIM - HGNC]
  • ZFP14:ZFP14 zinc finger protein [Gene - HGNC]
  • ZFP82:ZFP82 zinc finger protein [Gene - HGNC]
  • ALKBH6:alkB homolog 6 [Gene - OMIM - HGNC]
  • APLP1:amyloid beta precursor like protein 1 [Gene - OMIM - HGNC]
  • CAPNS1:calpain small subunit 1 [Gene - OMIM - HGNC]
  • COX6B1:cytochrome c oxidase subunit 6B1 [Gene - OMIM - HGNC]
  • COX7A1:cytochrome c oxidase subunit 7A1 [Gene - OMIM - HGNC]
  • DMKN:dermokine [Gene - OMIM - HGNC]
  • FAM187B:family with sequence similarity 187 member B [Gene - HGNC]
  • FFAR1:free fatty acid receptor 1 [Gene - OMIM - HGNC]
  • FFAR2:free fatty acid receptor 2 [Gene - OMIM - HGNC]
  • FFAR3:free fatty acid receptor 3 [Gene - OMIM - HGNC]
  • GAPDHS:glyceraldehyde-3-phosphate dehydrogenase, spermatogenic [Gene - OMIM - HGNC]
  • HSPB6:heat shock protein family B (small) member 6 [Gene - OMIM - HGNC]
  • HCST:hematopoietic cell signal transducer [Gene - OMIM - HGNC]
  • HAMP:hepcidin antimicrobial peptide [Gene - OMIM - HGNC]
  • HPN:hepsin [Gene - OMIM - HGNC]
  • KRTDAP:keratinocyte differentiation associated protein [Gene - OMIM - HGNC]
  • KIRREL2:kirre like nephrin family adhesion molecule 2 [Gene - OMIM - HGNC]
  • LGI4:leucine rich repeat LGI family member 4 [Gene - OMIM - HGNC]
  • LRFN3:leucine rich repeat and fibronectin type III domain containing 3 [Gene - OMIM - HGNC]
  • LIN37:lin-37 DREAM MuvB core complex component [Gene - HGNC]
  • LSR:lipolysis stimulated lipoprotein receptor [Gene - OMIM - HGNC]
  • KMT2B:lysine methyltransferase 2B [Gene - OMIM - HGNC]
  • MAG:myelin associated glycoprotein [Gene - OMIM - HGNC]
  • OVOL3:ovo like zinc finger 3 [Gene - OMIM - HGNC]
  • PSENEN:presenilin enhancer, gamma-secretase subunit [Gene - OMIM - HGNC]
  • PROSER3:proline and serine rich 3 [Gene - HGNC]
  • PRODH2:proline dehydrogenase 2 [Gene - OMIM - HGNC]
  • SCN1B:sodium voltage-gated channel beta subunit 1 [Gene - OMIM - HGNC]
  • SYNE4:spectrin repeat containing nuclear envelope family member 4 [Gene - OMIM - HGNC]
  • SDHAF1:succinate dehydrogenase complex assembly factor 1 [Gene - OMIM - HGNC]
  • SBSN:suprabasin [Gene - OMIM - HGNC]
  • TYROBP:transmembrane immune signaling adaptor TYROBP [Gene - OMIM - HGNC]
  • TMEM147:transmembrane protein 147 [Gene - OMIM - HGNC]
  • TBCB:tubulin folding cofactor B [Gene - OMIM - HGNC]
  • USF2:upstream transcription factor 2, c-fos interacting [Gene - OMIM - HGNC]
  • UPK1A:uroplakin 1A [Gene - OMIM - HGNC]
  • ZBTB32:zinc finger and BTB domain containing 32 [Gene - OMIM - HGNC]
  • ZNF146:zinc finger protein 146 [Gene - OMIM - HGNC]
  • ZNF181:zinc finger protein 181 [Gene - OMIM - HGNC]
  • ZNF260:zinc finger protein 260 [Gene - OMIM - HGNC]
  • ZNF302:zinc finger protein 302 [Gene - HGNC]
  • ZNF30:zinc finger protein 30 [Gene - HGNC]
  • ZNF345:zinc finger protein 345 [Gene - HGNC]
  • ZNF382:zinc finger protein 382 [Gene - OMIM - HGNC]
  • ZNF383:zinc finger protein 383 [Gene - OMIM - HGNC]
  • ZNF420:zinc finger protein 420 [Gene - OMIM - HGNC]
  • ZNF461:zinc finger protein 461 [Gene - OMIM - HGNC]
  • ZNF529:zinc finger protein 529 [Gene - HGNC]
  • ZNF565:zinc finger protein 565 [Gene - OMIM - HGNC]
  • ZNF566:zinc finger protein 566 [Gene - HGNC]
  • ZNF567:zinc finger protein 567 [Gene - HGNC]
  • ZNF568:zinc finger protein 568 [Gene - OMIM - HGNC]
  • ZNF585A:zinc finger protein 585A [Gene - HGNC]
  • ZNF585B:zinc finger protein 585B [Gene - HGNC]
  • ZNF599:zinc finger protein 599 [Gene - HGNC]
  • ZNF790:zinc finger protein 790 [Gene - HGNC]
  • ZNF792:zinc finger protein 792 [Gene - HGNC]
  • ZNF829:zinc finger protein 829 [Gene - HGNC]
  • ZNF850:zinc finger protein 850 [Gene - HGNC]
Variant type:
copy number loss
Cytogenetic location:
19q13.11-13.12
Genomic location:
Chr19: 35111811 - 37744992 (on Assembly GRCh37)
Preferred name:
GRCh37/hg19 19q13.11-13.12(chr19:35111811-37744992)
HGVS:
NC_000019.9:g.(?_35111811)_(37744992_?)del
Observations:
1

Condition(s)

Name:
Generalized epilepsy with febrile seizures plus, type 1 (GEFSP1)
Synonyms:
GEFS+, TYPE 1
Identifiers:
MONDO: MONDO:0011416; MedGen: C1858672; Orphanet: 36387; OMIM: 604233

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000898390Baylor Genetics
criteria provided, single submitter

(ACMG CNV Guidelines, 2011)		Pathogenic
(Nov 1, 2018) 		de novoclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedde novoyes11not providednot providednot providedclinical testing

Citations

PubMed

American College of Medical Genetics standards and guidelines for interpretation and reporting of postnatal constitutional copy number variants.

Kearney HM, Thorland EC, Brown KK, Quintero-Rivera F, South ST; Working Group of the American College of Medical Genetics Laboratory Quality Assurance Committee..

Genet Med. 2011 Jul;13(7):680-5. doi: 10.1097/GIM.0b013e3182217a3a.

PubMed [citation]
PMID:
21681106

Details of each submission

From Baylor Genetics, SCV000898390.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1de novoyesnot providednot providednot provided1not provided1not provided

Last Updated: Apr 23, 2022