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GRCh37/hg19 5q32-35.3(chr5:149010383-180719789) AND Hunter-McAlpine craniosynostosis

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:
RCV002280612.1

Allele description [Variation Report for GRCh37/hg19 5q32-35.3(chr5:149010383-180719789)]

GRCh37/hg19 5q32-35.3(chr5:149010383-180719789)

Genes:
  • PHYKPL:5-phosphohydroxy-L-lysine phospho-lyase [Gene - OMIM - HGNC]
  • ADAM19:ADAM metallopeptidase domain 19 [Gene - OMIM - HGNC]
  • ADAMTS2:ADAM metallopeptidase with thrombospondin type 1 motif 2 [Gene - OMIM - HGNC]
  • ARL10:ADP ribosylation factor like GTPase 10 [Gene - HGNC]
  • ATP6V0E1:ATPase H+ transporting V0 subunit e1 [Gene - OMIM - HGNC]
  • ATP10B:ATPase phospholipid transporting 10B (putative) [Gene - OMIM - HGNC]
  • BNIP1:BCL2 interacting protein 1 [Gene - OMIM - HGNC]
  • C1QTNF2:C1q and TNF related 2 [Gene - OMIM - HGNC]
  • CNOT6:CCR4-NOT transcription complex subunit 6 [Gene - OMIM - HGNC]
  • CNOT8:CCR4-NOT transcription complex subunit 8 [Gene - OMIM - HGNC]
  • CD74:CD74 molecule [Gene - OMIM - HGNC]
  • CLK4:CDC like kinase 4 [Gene - OMIM - HGNC]
  • CREBRF:CREB3 regulatory factor [Gene - OMIM - HGNC]
  • DDX41:DEAD-box helicase 41 [Gene - OMIM - HGNC]
  • EBF1:EBF transcription factor 1 [Gene - OMIM - HGNC]
  • EFCAB9:EF-hand calcium binding domain 9 [Gene - OMIM - HGNC]
  • FBXW11:F-box and WD repeat domain containing 11 [Gene - OMIM - HGNC]
  • FAT2:FAT atypical cadherin 2 [Gene - OMIM - HGNC]
  • FAF2:Fas associated factor family member 2 [Gene - OMIM - HGNC]
  • GPRIN1:G protein regulated inducer of neurite outgrowth 1 [Gene - OMIM - HGNC]
  • GRK6:G protein-coupled receptor kinase 6 [Gene - OMIM - HGNC]
  • G3BP1:G3BP stress granule assembly factor 1 [Gene - OMIM - HGNC]
  • HIGD2A:HIG1 hypoxia inducible domain family member 2A [Gene - HGNC]
  • HMGXB3:HMG-box containing 3 [Gene - OMIM - HGNC]
  • ITK:IL2 inducible T cell kinase [Gene - OMIM - HGNC]
  • KIAA1191:KIAA1191 [Gene - HGNC]
  • LSM11:LSM11, U7 small nuclear RNA associated [Gene - OMIM - HGNC]
  • LARP1:La ribonucleoprotein 1, translational regulator [Gene - OMIM - HGNC]
  • MXD3:MAX dimerization protein 3 [Gene - OMIM - HGNC]
  • MRNIP:MRN complex interacting protein [Gene - OMIM - HGNC]
  • NDST1:N-deacetylase and N-sulfotransferase 1 [Gene - OMIM - HGNC]
  • N4BP3:NEDD4 binding protein 3 [Gene - OMIM - HGNC]
  • NHP2:NHP2 ribonucleoprotein [Gene - OMIM - HGNC]
  • NIPAL4:NIPA like domain containing 4 [Gene - OMIM - HGNC]
  • NKX2-5:NK2 homeobox 5 [Gene - OMIM - HGNC]
  • NOP16:NOP16 nucleolar protein [Gene - OMIM - HGNC]
  • NUDCD2:NudC domain containing 2 [Gene - OMIM - HGNC]
  • PDLIM7:PDZ and LIM domain 7 [Gene - OMIM - HGNC]
  • PPARGC1B:PPARG coactivator 1 beta [Gene - OMIM - HGNC]
  • PRELID1:PRELI domain containing 1 [Gene - OMIM - HGNC]
  • PROP1:PROP paired-like homeobox 1 [Gene - OMIM - HGNC]
  • PTTG1:PTTG1 regulator of sister chromatid separation, securin [Gene - OMIM - HGNC]
  • PWWP2A:PWWP domain containing 2A [Gene - OMIM - HGNC]
  • RAB24:RAB24, member RAS oncogene family [Gene - OMIM - HGNC]
  • RANBP17:RAN binding protein 17 [Gene - OMIM - HGNC]
  • RBM22:RNA binding motif protein 22 [Gene - OMIM - HGNC]
  • RUFY1:RUN and FYVE domain containing 1 [Gene - OMIM - HGNC]
  • RASGEF1C:RasGEF domain family member 1C [Gene - HGNC]
  • ARHGEF37:Rho guanine nucleotide exchange factor 37 [Gene - HGNC]
  • SAP30L:SAP30 like [Gene - OMIM - HGNC]
  • SH3PXD2B:SH3 and PX domains 2B [Gene - OMIM - HGNC]
  • SLU7:SLU7 homolog, splicing factor [Gene - OMIM - HGNC]
  • SOX30:SRY-box transcription factor 30 [Gene - OMIM - HGNC]
  • SIMC1:SUMO interacting motifs containing 1 [Gene - OMIM - HGNC]
  • TIMD4:T cell immunoglobulin and mucin domain containing 4 [Gene - OMIM - HGNC]
  • TLX3:T cell leukemia homeobox 3 [Gene - OMIM - HGNC]
  • TBC1D9B:TBC1 domain family member 9B [Gene - OMIM - HGNC]
  • THOC3:THO complex subunit 3 [Gene - OMIM - HGNC]
  • TNIP1:TNFAIP3 interacting protein 1 [Gene - OMIM - HGNC]
  • WWC1:WW and C2 domain containing 1 [Gene - OMIM - HGNC]
  • ZFP2:ZFP2 zinc finger protein [Gene - HGNC]
  • ZFP62:ZFP62 zinc finger protein [Gene - OMIM - HGNC]
  • ADRA1B:adrenoceptor alpha 1B [Gene - OMIM - HGNC]
  • MGAT1:alpha-1,3-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase [Gene - OMIM - HGNC]
  • MGAT4B:alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase B [Gene - OMIM - HGNC]
  • ANXA6:annexin A6 [Gene - OMIM - HGNC]
  • ATOX1:antioxidant 1 copper chaperone [Gene - OMIM - HGNC]
  • RARS1:arginyl-tRNA synthetase 1 [Gene - OMIM - HGNC]
  • ARSI:arylsulfatase family member I [Gene - OMIM - HGNC]
  • B4GALT7:beta-1,4-galactosyltransferase 7 [Gene - OMIM - HGNC]
  • BOD1:biorientation of chromosomes in cell division 1 [Gene - OMIM - HGNC]
  • BTNL3:butyrophilin like 3 [Gene - OMIM - HGNC]
  • BTNL8:butyrophilin like 8 [Gene - OMIM - HGNC]
  • BTNL9:butyrophilin like 9 [Gene - HGNC]
  • CDHR2:cadherin related family member 2 [Gene - OMIM - HGNC]
  • CAMK2A:calcium/calmodulin dependent protein kinase II alpha [Gene - OMIM - HGNC]
  • CANX:calnexin [Gene - OMIM - HGNC]
  • CDX1:caudal type homeobox 1 [Gene - OMIM - HGNC]
  • CBY3:chibby family member 3 [Gene - HGNC]
  • C5orf47:chromosome 5 open reading frame 47 [Gene - OMIM - HGNC]
  • C5orf52:chromosome 5 open reading frame 52 [Gene - HGNC]
  • C5orf58:chromosome 5 open reading frame 58 [Gene - HGNC]
  • C5orf60:chromosome 5 open reading frame 60 [Gene - HGNC]
  • CLINT1:clathrin interactor 1 [Gene - OMIM - HGNC]
  • CLTB:clathrin light chain B [Gene - OMIM - HGNC]
  • F12:coagulation factor XII [Gene - OMIM - HGNC]
  • CCDC69:coiled-coil domain containing 69 [Gene - OMIM - HGNC]
  • COL23A1:collagen type XXIII alpha 1 chain [Gene - OMIM - HGNC]
  • CSF1R:colony stimulating factor 1 receptor [Gene - OMIM - HGNC]
  • CPLX2:complexin 2 [Gene - OMIM - HGNC]
  • CCNG1:cyclin G1 [Gene - OMIM - HGNC]
  • CCNJL:cyclin J like [Gene - HGNC]
  • CYFIP2:cytoplasmic FMR1 interacting protein 2 [Gene - OMIM - HGNC]
  • CPEB4:cytoplasmic polyadenylation element binding protein 4 [Gene - OMIM - HGNC]
  • DOCK2:dedicator of cytokinesis 2 [Gene - OMIM - HGNC]
  • DOK3:docking protein 3 [Gene - OMIM - HGNC]
  • DRD1:dopamine receptor D1 [Gene - OMIM - HGNC]
  • DBN1:drebrin 1 [Gene - OMIM - HGNC]
  • DUSP1:dual specificity phosphatase 1 [Gene - OMIM - HGNC]
  • DCTN4:dynactin subunit 4 [Gene - OMIM - HGNC]
  • ERGIC1:endoplasmic reticulum-golgi intermediate compartment 1 [Gene - OMIM - HGNC]
  • EIF4E1B:eukaryotic translation initiation factor 4E family member 1B [Gene - HGNC]
  • FAM114A2:family with sequence similarity 114 member A2 [Gene - HGNC]
  • FAM153A:family with sequence similarity 153 member A [Gene - HGNC]
  • FAM153B:family with sequence similarity 153 member B [Gene - HGNC]
  • FAM193B:family with sequence similarity 193 member B [Gene - OMIM - HGNC]
  • FAM200C:family with sequence similarity 200 member C [Gene - OMIM - HGNC]
  • FABP6:fatty acid binding protein 6 [Gene - OMIM - HGNC]
  • FAXDC2:fatty acid hydroxylase domain containing 2 [Gene - OMIM - HGNC]
  • FGF18:fibroblast growth factor 18 [Gene - OMIM - HGNC]
  • FGFR4:fibroblast growth factor receptor 4 [Gene - OMIM - HGNC]
  • FNDC9:fibronectin type III domain containing 9 [Gene - HGNC]
  • FLT4:fms related receptor tyrosine kinase 4 [Gene - OMIM - HGNC]
  • FOXI1:forkhead box I1 [Gene - OMIM - HGNC]
  • GABRA1:gamma-aminobutyric acid type A receptor subunit alpha1 [Gene - OMIM - HGNC]
  • GABRA6:gamma-aminobutyric acid type A receptor subunit alpha6 [Gene - OMIM - HGNC]
  • GABRB2:gamma-aminobutyric acid type A receptor subunit beta2 [Gene - OMIM - HGNC]
  • GABRG2:gamma-aminobutyric acid type A receptor subunit gamma2 [Gene - OMIM - HGNC]
  • GABRP:gamma-aminobutyric acid type A receptor subunit pi [Gene - OMIM - HGNC]
  • GM2A:ganglioside GM2 activator [Gene - OMIM - HGNC]
  • GEMIN5:gem nuclear organelle associated protein 5 [Gene - OMIM - HGNC]
  • GRIA1:glutamate ionotropic receptor AMPA type subunit 1 [Gene - OMIM - HGNC]
  • GRM6:glutamate metabotropic receptor 6 [Gene - OMIM - HGNC]
  • GFPT2:glutamine-fructose-6-phosphate transaminase 2 [Gene - OMIM - HGNC]
  • GPX3:glutathione peroxidase 3 [Gene - OMIM - HGNC]
  • GLRA1:glycine receptor alpha 1 [Gene - OMIM - HGNC]
  • GARIN3:golgi associated RAB2B interactor family member 3 [Gene - OMIM - HGNC]
  • HAND1:heart and neural crest derivatives expressed 1 [Gene - OMIM - HGNC]
  • HAVCR1:hepatitis A virus cellular receptor 1 [Gene - OMIM - HGNC]
  • HAVCR2:hepatitis A virus cellular receptor 2 [Gene - OMIM - HGNC]
  • HNRNPAB:heterogeneous nuclear ribonucleoprotein A/B [Gene - OMIM - HGNC]
  • HNRNPH1:heterogeneous nuclear ribonucleoprotein H1 [Gene - OMIM - HGNC]
  • HK3:hexokinase 3 [Gene - OMIM - HGNC]
  • HRH2:histamine receptor H2 [Gene - OMIM - HGNC]
  • HMMR:hyaluronan mediated motility receptor [Gene - OMIM - HGNC]
  • IRGM:immunity related GTPase M [Gene - OMIM - HGNC]
  • INSYN2B:inhibitory synaptic factor family member 2B [Gene - HGNC]
  • IL12B:interleukin 12B [Gene - OMIM - HGNC]
  • KIF4B:kinesin family member 4B [Gene - OMIM - HGNC]
  • LMAN2:lectin, mannose binding 2 [Gene - OMIM - HGNC]
  • LTC4S:leukotriene C4 synthase [Gene - OMIM - HGNC]
  • LCP2:lymphocyte cytosolic protein 2 [Gene - OMIM - HGNC]
  • MAML1:mastermind like transcriptional coactivator 1 [Gene - OMIM - HGNC]
  • MED7:mediator complex subunit 7 [Gene - OMIM - HGNC]
  • MAT2B:methionine adenosyltransferase 2 non-catalytic beta subunit [Gene - OMIM - HGNC]
  • MIR103A1:microRNA 103a-1 [Gene - OMIM - HGNC]
  • MIR146A:microRNA 146a [Gene - OMIM - HGNC]
  • MIR378A:microRNA 378a [Gene - OMIM - HGNC]
  • MFAP3:microfibril associated protein 3 [Gene - OMIM - HGNC]
  • MRPL22:mitochondrial ribosomal protein L22 [Gene - OMIM - HGNC]
  • MAPK9:mitogen-activated protein kinase 9 [Gene - OMIM - HGNC]
  • MSX2:msh homeobox 2 [Gene - OMIM - HGNC]
  • MYOZ3:myozenin 3 [Gene - OMIM - HGNC]
  • NEURL1B:neuralized E3 ubiquitin protein ligase 1B [Gene - OMIM - HGNC]
  • NMUR2:neuromedin U receptor 2 [Gene - OMIM - HGNC]
  • NSD1:nuclear receptor binding SET domain protein 1 [Gene - OMIM - HGNC]
  • NPM1:nucleophosmin 1 [Gene - OMIM - HGNC]
  • OR2V1:olfactory receptor family 2 subfamily V member 1 [Gene - HGNC]
  • OR2V2:olfactory receptor family 2 subfamily V member 2 [Gene - HGNC]
  • OR2Y1:olfactory receptor family 2 subfamily Y member 1 [Gene - HGNC]
  • PANK3:pantothenate kinase 3 [Gene - OMIM - HGNC]
  • PDE6A:phosphodiesterase 6A [Gene - OMIM - HGNC]
  • PDGFRB:platelet derived growth factor receptor beta [Gene - OMIM - HGNC]
  • GALNT10:polypeptide N-acetylgalactosaminyltransferase 10 [Gene - OMIM - HGNC]
  • KCNMB1:potassium calcium-activated channel subfamily M regulatory beta subunit 1 [Gene - OMIM - HGNC]
  • KCNIP1:potassium voltage-gated channel interacting protein 1 [Gene - OMIM - HGNC]
  • PFN3:profilin 3 [Gene - OMIM - HGNC]
  • PRR7:proline rich 7, synaptic [Gene - OMIM - HGNC]
  • RACK1:receptor for activated C kinase 1 [Gene - OMIM - HGNC]
  • RGS14:regulator of G protein signaling 14 [Gene - OMIM - HGNC]
  • RMND5B:required for meiotic nuclear division 5 homolog B [Gene - HGNC]
  • RPL26L1:ribosomal protein L26 like 1 [Gene - HGNC]
  • RPS14:ribosomal protein S14 [Gene - OMIM - HGNC]
  • RNF130:ring finger protein 130 [Gene - OMIM - HGNC]
  • RNF145:ring finger protein 145 [Gene - HGNC]
  • RNF44:ring finger protein 44 [Gene - OMIM - HGNC]
  • SGCD:sarcoglycan delta [Gene - OMIM - HGNC]
  • SPARC:secreted protein acidic and cysteine rich [Gene - OMIM - HGNC]
  • SCGB3A1:secretoglobin family 3A member 1 [Gene - OMIM - HGNC]
  • SQSTM1:sequestosome 1 [Gene - OMIM - HGNC]
  • STK10:serine/threonine kinase 10 [Gene - OMIM - HGNC]
  • SFXN1:sideroflexin 1 [Gene - OMIM - HGNC]
  • SLIT3:slit guidance ligand 3 [Gene - OMIM - HGNC]
  • SMIM23:small integral membrane protein 23 [Gene - HGNC]
  • SMIM3:small integral membrane protein 3 [Gene - OMIM - HGNC]
  • SNORA74B:small nucleolar RNA, H/ACA box 74B [Gene - OMIM - HGNC]
  • SLC26A2:solute carrier family 26 member 2 [Gene - OMIM - HGNC]
  • SLC34A1:solute carrier family 34 member 1 [Gene - OMIM - HGNC]
  • SLC36A1:solute carrier family 36 member 1 [Gene - OMIM - HGNC]
  • SLC36A2:solute carrier family 36 member 2 [Gene - OMIM - HGNC]
  • SLC36A3:solute carrier family 36 member 3 [Gene - OMIM - HGNC]
  • SLC6A7:solute carrier family 6 member 7 [Gene - OMIM - HGNC]
  • SPDL1:spindle apparatus coiled-coil protein 1 [Gene - OMIM - HGNC]
  • STC2:stanniocalcin 2 [Gene - OMIM - HGNC]
  • SYNPO:synaptopodin [Gene - OMIM - HGNC]
  • SNCB:synuclein beta [Gene - OMIM - HGNC]
  • TRK-CTT2-3:tRNA-Lys (anticodon CTT) 2-3 [Gene - OMIM - HGNC]
  • TRP-TGG3-1:tRNA-Pro (anticodon TGG) 3-1 [Gene - OMIM - HGNC]
  • TRT-TGT6-1:tRNA-Thr (anticodon TGT) 6-1 [Gene - OMIM - HGNC]
  • TRV-AAC1-4:tRNA-Val (anticodon AAC) 1-4 [Gene - OMIM - HGNC]
  • TRV-CAC1-2:tRNA-Val (anticodon CAC) 1-2 [Gene - OMIM - HGNC]
  • THG1L:tRNA-histidine guanylyltransferase 1 like [Gene - OMIM - HGNC]
  • TENM2:teneurin transmembrane protein 2 [Gene - OMIM - HGNC]
  • TSPAN17:tetraspanin 17 [Gene - HGNC]
  • TTC1:tetratricopeptide repeat domain 1 [Gene - OMIM - HGNC]
  • TIGD6:tigger transposable element derived 6 [Gene - HGNC]
  • TMED9:transmembrane p24 trafficking protein 9 [Gene - HGNC]
  • TCOF1:treacle ribosome biogenesis factor 1 [Gene - OMIM - HGNC]
  • TRIM41:tripartite motif containing 41 [Gene - OMIM - HGNC]
  • TRIM52:tripartite motif containing 52 [Gene - OMIM - HGNC]
  • TRIM7:tripartite motif containing 7 [Gene - OMIM - HGNC]
  • UBTD2:ubiquitin domain containing 2 [Gene - OMIM - HGNC]
  • UIMC1:ubiquitin interaction motif containing 1 [Gene - OMIM - HGNC]
  • UBLCP1:ubiquitin like domain containing CTD phosphatase 1 [Gene - OMIM - HGNC]
  • UNC5A:unc-5 netrin receptor A [Gene - OMIM - HGNC]
  • LOC100128059:uncharacterized LOC100128059 [Gene]
  • LOC100288254:uncharacterized LOC100288254 [Gene]
  • ZNF300:zinc finger protein 300 [Gene - OMIM - HGNC]
  • ZNF346:zinc finger protein 346 [Gene - OMIM - HGNC]
  • ZNF354A:zinc finger protein 354A [Gene - OMIM - HGNC]
  • ZNF354B:zinc finger protein 354B [Gene - HGNC]
  • ZNF354C:zinc finger protein 354C [Gene - OMIM - HGNC]
  • ZNF454:zinc finger protein 454 [Gene - HGNC]
  • ZNF879:zinc finger protein 879 [Gene - HGNC]
Variant type:
copy number gain
Cytogenetic location:
5q32-35.3
Genomic location:
Chr5: 149010383 - 180719789 (on Assembly GRCh37)
Preferred name:
GRCh37/hg19 5q32-35.3(chr5:149010383-180719789)

Condition(s)

Name:
Hunter-McAlpine craniosynostosis
Synonyms:
Hunter-McAlpine syndrome; Hunter-mcalpine craniosynostosis syndrome; Craniosynostosis, mental deficiency, almond-shaped palpebral fissures, downturned mouth, mild acral-skeletal anomalies, and short stature
Identifiers:
MONDO: MONDO:0011065; MedGen: C1832408; Orphanet: 97340; OMIM: 601379

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002568879Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital
no assertion criteria provided
Pathogenicunknownclinical testing

Help

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, SCV002568879.1

#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: Mar 26, 2023