GRCh38/hg38 1p36.33-36.23(chr1:629025-8537745)x1 AND See cases

Clinical significance:Pathogenic (Last evaluated: Aug 12, 2011)

Review status:1 star out of maximum of 4 stars

classified by single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000051993.3

Allele description [Variation Report for GRCh38/hg38 1p36.33-36.23(chr1:629025-8537745)x1]

Genes:
  • RERE:arginine-glutamic acid dipeptide (RE) repeats [Gene - OMIM]
  • CDK11B:cyclin-dependent kinase 11B [Gene - OMIM]
  • DFFB:DNA fragmentation factor, 40kDa, beta polypeptide (caspase-activated DNase) [Gene - OMIM]
  • DVL1:dishevelled segment polarity protein 1 [Gene - OMIM]
  • MEGF6:multiple EGF-like-domains 6 [Gene - OMIM]
  • GABRD:gamma-aminobutyric acid (GABA) A receptor, delta [Gene - OMIM]
  • GNB1:guanine nucleotide binding protein (G protein), beta polypeptide 1 [Gene - OMIM]
  • ZBTB48:zinc finger and BTB domain containing 48 [Gene - OMIM]
  • TNFRSF9:tumor necrosis factor receptor superfamily, member 9 [Gene - OMIM]
  • PEX10:peroxisomal biogenesis factor 10 [Gene - OMIM]
  • PRKCZ:protein kinase C, zeta [Gene - OMIM]
  • RPL22:ribosomal protein L22 [Gene - OMIM]
  • SCNN1D:sodium channel, non-voltage-gated 1, delta subunit [Gene - OMIM]
  • SKI:SKI proto-oncogene [Gene - OMIM]
  • TP73:tumor protein p73 [Gene - OMIM]
  • TNFRSF4:tumor necrosis factor receptor superfamily, member 4 [Gene - OMIM]
  • MMP23B:matrix metallopeptidase 23B [Gene - OMIM]
  • MMP23A:matrix metallopeptidase 23A (pseudogene) [Gene - OMIM]
  • KCNAB2:potassium voltage-gated channel, shaker-related subfamily, beta member 2 [Gene - OMIM]
  • TNFRSF25:tumor necrosis factor receptor superfamily, member 25 [Gene - OMIM]
  • TNFRSF14:tumor necrosis factor receptor superfamily, member 14 [Gene - OMIM]
  • TNFRSF18:tumor necrosis factor receptor superfamily, member 18 [Gene - OMIM]
  • PER3:period circadian clock 3 [Gene - OMIM]
  • VAMP3:vesicle-associated membrane protein 3 [Gene - OMIM]
  • ISG15:ISG15 ubiquitin-like modifier [Gene - OMIM]
  • PLCH2:phospholipase C, eta 2 [Gene - OMIM]
  • CEP104:centrosomal protein 104kDa [Gene]
  • KLHL21:kelch-like family member 21 [Gene]
  • SLC35E2:solute carrier family 35, member E2 [Gene]
  • UTS2:urotensin 2 [Gene - OMIM]
  • RER1:retention in endoplasmic reticulum sorting receptor 1 [Gene]
  • PARK7:parkinson protein 7 [Gene - OMIM]
  • ACOT7:acyl-CoA thioesterase 7 [Gene - OMIM]
  • CAMTA1:calmodulin binding transcription activator 1 [Gene - OMIM]
  • ICMT:isoprenylcysteine carboxyl methyltransferase [Gene - OMIM]
  • CHD5:chromodomain helicase DNA binding protein 5 [Gene - OMIM]
  • NOC2L:nucleolar complex associated 2 homolog (S. cerevisiae) [Gene - OMIM]
  • ARHGEF16:Rho guanine nucleotide exchange factor (GEF) 16 [Gene]
  • SSU72:SSU72 RNA polymerase II CTD phosphatase homolog (S. cerevisiae) [Gene]
  • WRAP73:WD repeat containing, antisense to TP73 [Gene - OMIM]
  • SLC45A1:solute carrier family 45, member 1 [Gene - OMIM]
  • SDF4:stromal cell derived factor 4 [Gene - OMIM]
  • ERRFI1:ERBB receptor feedback inhibitor 1 [Gene - OMIM]
  • MXRA8:matrix-remodelling associated 8 [Gene]
  • HES2:hes family bHLH transcription factor 2 [Gene - OMIM]
  • CPSF3L:cleavage and polyadenylation specific factor 3-like [Gene - OMIM]
  • C1orf159:chromosome 1 open reading frame 159 [Gene]
  • AURKAIP1:aurora kinase A interacting protein 1 [Gene - OMIM]
  • MRPL20:mitochondrial ribosomal protein L20 [Gene - OMIM]
  • ATAD3A:ATPase family, AAA domain containing 3A [Gene - OMIM]
  • PANK4:pantothenate kinase 4 [Gene - OMIM]
  • DNAJC11:DnaJ (Hsp40) homolog, subfamily C, member 11 [Gene - OMIM]
  • AJAP1:adherens junctions associated protein 1 [Gene - OMIM]
  • PLEKHG5:pleckstrin homology domain containing, family G (with RhoGef domain) member 5 [Gene - OMIM]
  • LRRC47:leucine rich repeat containing 47 [Gene]
  • HES4:hes family bHLH transcription factor 4 [Gene - OMIM]
  • PRDM16:PR domain containing 16 [Gene - OMIM]
  • VWA1:von Willebrand factor A domain containing 1 [Gene - OMIM]
  • NADK:NAD kinase [Gene - OMIM]
  • MMEL1:membrane metallo-endopeptidase-like 1 [Gene]
  • NOL9:nucleolar protein 9 [Gene]
  • MORN1:MORN repeat containing 1 [Gene]
  • CPTP:ceramide-1-phosphate transfer protein [Gene - OMIM]
  • TAS1R1:taste receptor, type 1, member 1 [Gene - OMIM]
  • OR4F16:olfactory receptor, family 4, subfamily F, member 16 [Gene]
  • CCNL2:cyclin L2 [Gene - OMIM]
  • ESPN:espin [Gene - OMIM]
  • TAS1R3:taste receptor, type 1, member 3 [Gene - OMIM]
  • ATAD3B:ATPase family, AAA domain containing 3B [Gene - OMIM]
  • PLEKHN1:pleckstrin homology domain containing, family N member 1 [Gene]
  • THAP3:THAP domain containing, apoptosis associated protein 3 [Gene - OMIM]
  • ACAP3:ArfGAP with coiled-coil, ankyrin repeat and PH domains 3 [Gene]
  • UBE2J2:ubiquitin-conjugating enzyme E2, J2 [Gene]
  • PUSL1:pseudouridylate synthase-like 1 [Gene]
  • B3GALT6:UDP-Gal:betaGal beta 1,3-galactosyltransferase polypeptide 6 [Gene - OMIM]
  • TPRG1L:tumor protein p63 regulated 1-like [Gene - OMIM]
  • FAM213B:family with sequence similarity 213, member B [Gene]
  • ACTRT2:actin-related protein T2 [Gene - OMIM]
  • MIB2:mindbomb E3 ubiquitin protein ligase 2 [Gene - OMIM]
  • SAMD11:sterile alpha motif domain containing 11 [Gene]
  • PHF13:PHD finger protein 13 [Gene]
  • CCDC27:coiled-coil domain containing 27 [Gene]
  • CALML6:calmodulin-like 6 [Gene - OMIM]
  • C1orf86:chromosome 1 open reading frame 86 [Gene - OMIM]
  • ATAD3C:ATPase family, AAA domain containing 3C [Gene]
  • TTLL10:tubulin tyrosine ligase-like family, member 10 [Gene]
  • NPHP4:nephronophthisis 4 [Gene - OMIM]
  • C1orf174:chromosome 1 open reading frame 174 [Gene]
  • KLHL17:kelch-like family member 17 [Gene]
  • TMEM240:transmembrane protein 240 [Gene - OMIM]
  • TMEM52:transmembrane protein 52 [Gene]
  • AGRN:agrin [Gene - OMIM]
  • GPR153:G protein-coupled receptor 153 [Gene - OMIM]
  • FAM132A:family with sequence similarity 132, member A [Gene]
  • HES5:hes family bHLH transcription factor 5 [Gene - OMIM]
  • SMIM1:small integral membrane protein 1 (Vel blood group) [Gene - OMIM]
  • RNF207:ring finger protein 207 [Gene]
  • HES3:hes family bHLH transcription factor 3 [Gene - OMIM]
  • RNF223:ring finger protein 223 [Gene]
  • MIR200A:microRNA 200a [Gene - OMIM]
  • MIR200B:microRNA 200b [Gene - OMIM]
  • ANKRD65:ankyrin repeat domain 65 [Gene]
  • MIR429:microRNA 429 [Gene - OMIM]
  • TMEM88B:transmembrane protein 88B [Gene]
  • C1orf233:chromosome 1 open reading frame 233 [Gene]
  • MIR551A:microRNA 551a [Gene - OMIM]
  • CDK11A:cyclin-dependent kinase 11A [Gene - OMIM]
  • SLC35E2B:solute carrier family 35, member E2B [Gene]
  • TTC34:tetratricopeptide repeat domain 34 [Gene]
Variant type:
copy number loss
Cytogenetic location:
1p36.33-36.23
Genomic location:
Preferred name:
GRCh38/hg38 1p36.33-36.23(chr1:629025-8537745)x1
HGVS:
  • NC_000001.10:g.(?_564405)_(8597804_?)del
  • NC_000001.11:g.(?_629025)_(8537745_?)del
Links:
dbVar: nsv530705
Observations:
1

Condition(s)

Name:
See cases [See the Variation display for details]
Identifiers:

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Assertion and evidence details

Submission AccessionSubmitterReview StatusClinical Significance
(Last evaluated)
OriginMethodConsequenceCitations
SCV000079342ISCA site 15classified by single submitterPathogenic
(Aug 12, 2011)
not providedclinical testing

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

Summary from all submissions

EthnicityOriginAffectedAlleles observedFamiliesChromosomes testedNumber TestedFamily historyMethod
not providednot providedyes1not providednot providednot providednot providedclinical testing

Citations

PubMed

An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities.

Kaminsky EB, Kaul V, Paschall J, Church DM, Bunke B, Kunig D, Moreno-De-Luca D, Moreno-De-Luca A, Mulle JG, Warren ST, Richard G, Compton JG, Fuller AE, Gliem TJ, Huang S, Collinson MN, Beal SJ, Ackley T, Pickering DL, Golden DM, Aston E, Whitby H, et al.

Genet Med. 2011 Sep;13(9):777-84. doi: 10.1097/GIM.0b013e31822c79f9.

PubMed [citation]
PMID:
21844811
PMCID:
PMC3661946

Details of each submission

From ISCA site 15, SCV000079342.3

#EthnicityAlleles ObservedChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodVariant allelesAllele frequencyFamiliesCo-occurrences
1not providedyesnot providednot providedDiscovery1not providednot providednot provided

Last Updated: Nov 29, 2014

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