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GRCh37/hg19 1p36.33-36.22(chr1:849466-10258804) AND Chromosome 1p36 deletion syndrome, proximal

Germline classification:
Pathogenic (1 submission)
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:
RCV002280717.1

Allele description [Variation Report for GRCh37/hg19 1p36.33-36.22(chr1:849466-10258804)]

GRCh37/hg19 1p36.33-36.22(chr1:849466-10258804)

Genes:
  • ATAD3A:ATPase family AAA domain containing 3A [Gene - OMIM - HGNC]
  • ATAD3B:ATPase family AAA domain containing 3B [Gene - OMIM - HGNC]
  • ATAD3C:ATPase family AAA domain containing 3C [Gene - OMIM - HGNC]
  • ACAP3:ArfGAP with coiled-coil, ankyrin repeat and PH domains 3 [Gene - HGNC]
  • C1QTNF12:C1q and TNF related 12 [Gene - OMIM - HGNC]
  • DFFB:DNA fragmentation factor subunit beta [Gene - OMIM - HGNC]
  • DNAJC11:DnaJ heat shock protein family (Hsp40) member C11 [Gene - OMIM - HGNC]
  • ENO1-AS1:ENO1 antisense RNA 1 [Gene - HGNC]
  • ERRFI1:ERBB receptor feedback inhibitor 1 [Gene - OMIM - HGNC]
  • FAAP20:FA core complex associated protein 20 [Gene - OMIM - HGNC]
  • GNB1:G protein subunit beta 1 [Gene - OMIM - HGNC]
  • GPR153:G protein-coupled receptor 153 [Gene - OMIM - HGNC]
  • GPR157:G protein-coupled receptor 157 [Gene - HGNC]
  • ISG15:ISG15 ubiquitin like modifier [Gene - OMIM - HGNC]
  • MIB2:MIB E3 ubiquitin protein ligase 2 [Gene - OMIM - HGNC]
  • MORN1:MORN repeat containing 1 [Gene - HGNC]
  • NADK:NAD kinase [Gene - OMIM - HGNC]
  • NOC2L:NOC2 like nucleolar associated transcriptional repressor [Gene - OMIM - HGNC]
  • PHF13:PHD finger protein 13 [Gene - OMIM - HGNC]
  • PRDM16:PR/SET domain 16 [Gene - OMIM - HGNC]
  • PARK7:Parkinsonism associated deglycase [Gene - OMIM - HGNC]
  • ARHGEF16:Rho guanine nucleotide exchange factor 16 [Gene - OMIM - HGNC]
  • SKI:SKI proto-oncogene [Gene - OMIM - HGNC]
  • SSU72:SSU72 homolog, RNA polymerase II CTD phosphatase [Gene - OMIM - HGNC]
  • THAP3:THAP domain containing 3 [Gene - OMIM - HGNC]
  • TNFRSF14:TNF receptor superfamily member 14 [Gene - OMIM - HGNC]
  • TNFRSF18:TNF receptor superfamily member 18 [Gene - OMIM - HGNC]
  • TNFRSF25:TNF receptor superfamily member 25 [Gene - OMIM - HGNC]
  • TNFRSF4:TNF receptor superfamily member 4 [Gene - OMIM - HGNC]
  • TNFRSF9:TNF receptor superfamily member 9 [Gene - OMIM - HGNC]
  • WRAP73:WD repeat containing, antisense to TP73 [Gene - OMIM - HGNC]
  • ACTRT2:actin related protein T2 [Gene - OMIM - HGNC]
  • ACOT7:acyl-CoA thioesterase 7 [Gene - OMIM - HGNC]
  • AJAP1:adherens junctions associated protein 1 [Gene - OMIM - HGNC]
  • AGRN:agrin [Gene - OMIM - HGNC]
  • ANKRD65:ankyrin repeat domain 65 [Gene - HGNC]
  • RERE:arginine-glutamic acid dipeptide repeats [Gene - OMIM - HGNC]
  • AURKAIP1:aurora kinase A interacting protein 1 [Gene - OMIM - HGNC]
  • B3GALT6:beta-1,3-galactosyltransferase 6 [Gene - OMIM - HGNC]
  • CAMTA1:calmodulin binding transcription activator 1 [Gene - OMIM - HGNC]
  • CALML6:calmodulin like 6 [Gene - OMIM - HGNC]
  • CLSTN1:calsyntenin 1 [Gene - OMIM - HGNC]
  • CA6:carbonic anhydrase 6 [Gene - OMIM - HGNC]
  • CTNNBIP1:catenin beta interacting protein 1 [Gene - OMIM - HGNC]
  • CEP104:centrosomal protein 104 [Gene - OMIM - HGNC]
  • CPTP:ceramide-1-phosphate transfer protein [Gene - OMIM - HGNC]
  • CHD5:chromodomain helicase DNA binding protein 5 [Gene - OMIM - HGNC]
  • C1orf159:chromosome 1 open reading frame 159 [Gene - HGNC]
  • C1orf174:chromosome 1 open reading frame 174 [Gene - HGNC]
  • CFAP74:cilia and flagella associated protein 74 [Gene - OMIM - HGNC]
  • CCDC27:coiled-coil domain containing 27 [Gene - HGNC]
  • CCNL2:cyclin L2 [Gene - OMIM - HGNC]
  • CDK11A:cyclin dependent kinase 11A [Gene - OMIM - HGNC]
  • CDK11B:cyclin dependent kinase 11B [Gene - OMIM - HGNC]
  • DVL1:dishevelled segment polarity protein 1 [Gene - OMIM - HGNC]
  • ENO1:enolase 1 [Gene - OMIM - HGNC]
  • ESPN:espin [Gene - OMIM - HGNC]
  • FNDC10:fibronectin type III domain containing 10 [Gene - HGNC]
  • GABRD:gamma-aminobutyric acid type A receptor subunit delta [Gene - OMIM - HGNC]
  • HES2:hes family bHLH transcription factor 2 [Gene - OMIM - HGNC]
  • HES3:hes family bHLH transcription factor 3 [Gene - OMIM - HGNC]
  • HES4:hes family bHLH transcription factor 4 [Gene - OMIM - HGNC]
  • HES5:hes family bHLH transcription factor 5 [Gene - OMIM - HGNC]
  • H6PD:hexose-6-phosphate dehydrogenase/glucose 1-dehydrogenase [Gene - OMIM - HGNC]
  • INTS11:integrator complex subunit 11 [Gene - OMIM - HGNC]
  • ICMT:isoprenylcysteine carboxyl methyltransferase [Gene - OMIM - HGNC]
  • KLHL17:kelch like family member 17 [Gene - OMIM - HGNC]
  • KLHL21:kelch like family member 21 [Gene - OMIM - HGNC]
  • LRRC47:leucine rich repeat containing 47 [Gene - OMIM - HGNC]
  • LZIC:leucine zipper and CTNNBIP1 domain containing [Gene - OMIM - HGNC]
  • MMP23B:matrix metallopeptidase 23B [Gene - OMIM - HGNC]
  • MXRA8:matrix remodeling associated 8 [Gene - OMIM - HGNC]
  • MMEL1:membrane metalloendopeptidase like 1 [Gene - OMIM - HGNC]
  • MIR200A:microRNA 200a [Gene - OMIM - HGNC]
  • MIR200B:microRNA 200b [Gene - OMIM - HGNC]
  • MIR34A:microRNA 34a [Gene - OMIM - HGNC]
  • MIR429:microRNA 429 [Gene - OMIM - HGNC]
  • MIR551A:microRNA 551a [Gene - OMIM - HGNC]
  • MRPL20:mitochondrial ribosomal protein L20 [Gene - OMIM - HGNC]
  • MEGF6:multiple EGF like domains 6 [Gene - OMIM - HGNC]
  • NPHP4:nephrocystin 4 [Gene - OMIM - HGNC]
  • NMNAT1:nicotinamide nucleotide adenylyltransferase 1 [Gene - OMIM - HGNC]
  • NOL9:nucleolar protein 9 [Gene - OMIM - HGNC]
  • PANK4:pantothenate kinase 4 (inactive) [Gene - OMIM - HGNC]
  • PER3:period circadian regulator 3 [Gene - OMIM - HGNC]
  • PRXL2B:peroxiredoxin like 2B [Gene - HGNC]
  • PEX10:peroxisomal biogenesis factor 10 [Gene - OMIM - HGNC]
  • PIK3CD:phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta [Gene - OMIM - HGNC]
  • PLCH2:phospholipase C eta 2 [Gene - OMIM - HGNC]
  • PLEKHG5:pleckstrin homology and RhoGEF domain containing G5 [Gene - OMIM - HGNC]
  • PLEKHN1:pleckstrin homology domain containing N1 [Gene - HGNC]
  • KCNAB2:potassium voltage-gated channel subfamily A regulatory beta subunit 2 [Gene - OMIM - HGNC]
  • PRKCZ:protein kinase C zeta [Gene - OMIM - HGNC]
  • PUSL1:pseudouridine synthase like 1 [Gene - HGNC]
  • RER1:retention in endoplasmic reticulum sorting receptor 1 [Gene - OMIM - HGNC]
  • RBP7:retinol binding protein 7 [Gene - OMIM - HGNC]
  • RPL22:ribosomal protein L22 [Gene - OMIM - HGNC]
  • RNF207:ring finger protein 207 [Gene - OMIM - HGNC]
  • RNF223:ring finger protein 223 [Gene - HGNC]
  • SMIM1:small integral membrane protein 1 (Vel blood group) [Gene - OMIM - HGNC]
  • SCNN1D:sodium channel epithelial 1 subunit delta [Gene - OMIM - HGNC]
  • SLC2A5:solute carrier family 2 member 5 [Gene - OMIM - HGNC]
  • SLC2A7:solute carrier family 2 member 7 [Gene - OMIM - HGNC]
  • SLC25A33:solute carrier family 25 member 33 [Gene - OMIM - HGNC]
  • SLC35E2A:solute carrier family 35 member E2A [Gene - HGNC]
  • SLC35E2B:solute carrier family 35 member E2B [Gene - OMIM - HGNC]
  • SLC45A1:solute carrier family 45 member 1 [Gene - OMIM - HGNC]
  • SPSB1:splA/ryanodine receptor domain and SOCS box containing 1 [Gene - OMIM - HGNC]
  • SAMD11:sterile alpha motif domain containing 11 [Gene - OMIM - HGNC]
  • SDF4:stromal cell derived factor 4 [Gene - OMIM - HGNC]
  • TAS1R1:taste 1 receptor member 1 [Gene - OMIM - HGNC]
  • TAS1R3:taste 1 receptor member 3 [Gene - OMIM - HGNC]
  • TTC34:tetratricopeptide repeat domain 34 [Gene - HGNC]
  • TMEM201:transmembrane protein 201 [Gene - HGNC]
  • TMEM240:transmembrane protein 240 [Gene - OMIM - HGNC]
  • TMEM52:transmembrane protein 52 [Gene - HGNC]
  • TMEM88B:transmembrane protein 88B [Gene - HGNC]
  • TTLL10:tubulin tyrosine ligase like 10 [Gene - HGNC]
  • TPRG1L:tumor protein p63 regulated 1 like [Gene - OMIM - HGNC]
  • TP73:tumor protein p73 [Gene - OMIM - HGNC]
  • UBE2J2:ubiquitin conjugating enzyme E2 J2 [Gene - OMIM - HGNC]
  • UBE4B:ubiquitination factor E4B [Gene - OMIM - HGNC]
  • UTS2:urotensin 2 [Gene - OMIM - HGNC]
  • VAMP3:vesicle associated membrane protein 3 [Gene - OMIM - HGNC]
  • VWA1:von Willebrand factor A domain containing 1 [Gene - OMIM - HGNC]
  • ZBTB48:zinc finger and BTB domain containing 48 [Gene - OMIM - HGNC]
Variant type:
copy number loss
Cytogenetic location:
1p36.33-36.22
Genomic location:
Chr1: 849466 - 10258804 (on Assembly GRCh37)
Preferred name:
GRCh37/hg19 1p36.33-36.22(chr1:849466-10258804)

Condition(s)

Name:
Chromosome 1p36 deletion syndrome, proximal
Identifiers:
MONDO: MONDO:0859155; MedGen: C5562114; OMIM: 619343

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV002568982Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital
no assertion criteria provided
Pathogenicunknownclinical testing

Summary from all submissions

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

Details of each submission

From Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital, SCV002568982.1

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

Last Updated: Apr 15, 2023