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GRCh37/hg19 20q13.33(chr20:61510452-62315381) AND Epileptic spasm

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Mar 15, 2021
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:
RCV001352668.1

Allele description [Variation Report for GRCh37/hg19 20q13.33(chr20:61510452-62315381)]

GRCh37/hg19 20q13.33(chr20:61510452-62315381)

Genes:
  • ARFGAP1:ADP ribosylation factor GTPase activating protein 1 [Gene - OMIM - HGNC]
  • GID8:GID complex subunit 8 homolog [Gene - OMIM - HGNC]
  • YTHDF1:YTH N6-methyladenosine RNA binding protein 1 [Gene - OMIM - HGNC]
  • BIRC7:baculoviral IAP repeat containing 7 [Gene - OMIM - HGNC]
  • BHLHE23:basic helix-loop-helix family member e23 [Gene - OMIM - HGNC]
  • CHRNA4:cholinergic receptor nicotinic alpha 4 subunit [Gene - OMIM - HGNC]
  • COL20A1:collagen type XX alpha 1 chain [Gene - OMIM - HGNC]
  • DIDO1:death inducer-obliterator 1 [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]
  • HAR1A:highly accelerated region 1A [Gene - OMIM - HGNC]
  • HAR1B:highly accelerated region 1B [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]
  • NKAIN4:sodium/potassium transporting ATPase interacting 4 [Gene - OMIM - HGNC]
  • SLC17A9:solute carrier family 17 member 9 [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]
Variant type:
copy number loss
Cytogenetic location:
20q13.33
Genomic location:
Chr20: 61510452 - 62315381 (on Assembly GRCh37)
Preferred name:
GRCh37/hg19 20q13.33(chr20:61510452-62315381)
HGVS:
NC_000020.10:g.(?_61510452)_(62315381_?)del

Condition(s)

Name:
Epileptic spasm
Synonyms:
Epileptic spasms
Identifiers:
MedGen: C1527366; Human Phenotype Ontology: HP:0011097

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001547236Medical Genetics Laboratory, CHRU Nancy
criteria provided, single submitter

(ACMG/ClinGen CNV Guidelines, 2019)
Pathogenic
(Mar 15, 2021)
paternalclinical testing

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

Summary from all submissions

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

Citations

PubMed

Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen).

Riggs ER, Andersen EF, Cherry AM, Kantarci S, Kearney H, Patel A, Raca G, Ritter DI, South ST, Thorland EC, Pineda-Alvarez D, Aradhya S, Martin CL.

Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6. Erratum in: Genet Med. 2021 Nov;23(11):2230. doi: 10.1038/s41436-021-01150-9.

PubMed [citation]
PMID:
31690835
PMCID:
PMC7313390

Details of each submission

From Medical Genetics Laboratory, CHRU Nancy, SCV001547236.1

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

Last Updated: Apr 23, 2022