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GRCh37/hg19 9q33.3-34.11(chr9:128512347-130702572)x1 AND multiple conditions

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Nov 22, 2018
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:
RCV001263247.2

Allele description [Variation Report for GRCh37/hg19 9q33.3-34.11(chr9:128512347-130702572)x1]

GRCh37/hg19 9q33.3-34.11(chr9:128512347-130702572)x1

Genes:
  • GARNL3:GTPase activating Rap/RanGAP domain like 3 [Gene - HGNC]
  • LMX1B:LIM homeobox transcription factor 1 beta [Gene - OMIM - HGNC]
  • PBX3:PBX homeobox 3 [Gene - OMIM - HGNC]
  • RALGPS1:Ral GEF with PH domain and SH3 binding motif 1 [Gene - OMIM - HGNC]
  • SH2D3C:SH2 domain containing 3C [Gene - OMIM - HGNC]
  • ST6GALNAC4:ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 4 [Gene - OMIM - HGNC]
  • ST6GALNAC6:ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 6 [Gene - OMIM - HGNC]
  • AK1:adenylate kinase 1 [Gene - OMIM - HGNC]
  • ANGPTL2:angiopoietin like 2 [Gene - OMIM - HGNC]
  • CFAP157:cilia and flagella associated protein 157 [Gene - HGNC]
  • CDK9:cyclin dependent kinase 9 [Gene - OMIM - HGNC]
  • DPM2:dolichyl-phosphate mannosyltransferase subunit 2, regulatory [Gene - OMIM - HGNC]
  • ENG:endoglin [Gene - OMIM - HGNC]
  • FPGS:folylpolyglutamate synthase [Gene - OMIM - HGNC]
  • LRSAM1:leucine rich repeat and sterile alpha motif containing 1 [Gene - OMIM - HGNC]
  • MIR2861:microRNA 2861 [Gene - OMIM - HGNC]
  • MVB12B:multivesicular body subunit 12B [Gene - HGNC]
  • NIBAN2:niban apoptosis regulator 2 [Gene - OMIM - HGNC]
  • NRON:non-coding repressor of NFAT [Gene - OMIM - HGNC]
  • PTRH1:peptidyl-tRNA hydrolase 1 homolog [Gene - HGNC]
  • PIP5KL1:phosphatidylinositol-4-phosphate 5-kinase like 1 [Gene - OMIM - HGNC]
  • RPL12:ribosomal protein L12 [Gene - OMIM - HGNC]
  • SLC2A8:solute carrier family 2 member 8 [Gene - OMIM - HGNC]
  • STXBP1:syntaxin binding protein 1 [Gene - OMIM - HGNC]
  • TTC16:tetratricopeptide repeat domain 16 [Gene - HGNC]
  • TOR2A:torsin family 2 member A [Gene - OMIM - HGNC]
  • ZBTB34:zinc finger and BTB domain containing 34 [Gene - OMIM - HGNC]
  • ZBTB43:zinc finger and BTB domain containing 43 [Gene - OMIM - HGNC]
  • ZNF79:zinc finger protein 79 [Gene - OMIM - HGNC]
Variant type:
copy number loss
Cytogenetic location:
9q33.3-34.11
Genomic location:
Chr9: 128512347 - 130702572 (on Assembly GRCh37)
Preferred name:
GRCh37/hg19 9q33.3-34.11(chr9:128512347-130702572)x1
HGVS:
NC_000009.11:g.(?_128512347)_(130702572_?)del

Condition(s)

Name:
Developmental and epileptic encephalopathy, 4 (DEE4)
Synonyms:
Early infantile epileptic encephalopathy 4; STXBP1-Related Epileptic Encephalopathy
Identifiers:
MONDO: MONDO:0012812; MedGen: C2677326; Orphanet: 1934; Orphanet: 33069; OMIM: 612164
Name:
Nail-patella syndrome (NPS)
Synonyms:
NPS 1; Onychoosteodysplasia; Turner-Kieser syndrome; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0008061; MedGen: C0027341; Orphanet: 2614; OMIM: 161200

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001441278Coyote Medical Laboratory (Beijing), Coyote
no assertion criteria provided
Pathogenic
(Nov 22, 2018) 		de novoclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedde novoyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Coyote Medical Laboratory (Beijing), Coyote, SCV001441278.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1de novoyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jun 23, 2024