GRCh38/hg38 1p36.22-36.13(chr1:10809039-16422500)x1 AND See cases

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

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000053765.4

Allele description [Variation Report for GRCh38/hg38 1p36.22-36.13(chr1:10809039-16422500)x1]

GRCh38/hg38 1p36.22-36.13(chr1:10809039-16422500)x1

Genes:
  • DDI2:DNA damage inducible 1 homolog 2 [Gene - HGNC]
  • DNAJC16:DnaJ heat shock protein family (Hsp40) member C16 [Gene - HGNC]
  • EFHD2:EF-hand domain family member D2 [Gene - OMIM - HGNC]
  • EPHA2:EPH receptor A2 [Gene - OMIM - HGNC]
  • FBXO2:F-box protein 2 [Gene - OMIM - HGNC]
  • FBXO42:F-box protein 42 [Gene - OMIM - HGNC]
  • FBXO44:F-box protein 44 [Gene - OMIM - HGNC]
  • FBXO6:F-box protein 6 [Gene - OMIM - HGNC]
  • KIAA2013:KIAA2013 [Gene - HGNC]
  • MTOR-AS1:MTOR antisense RNA 1 [Gene - HGNC]
  • NPPA-AS1:NPPA antisense RNA 1 [Gene - HGNC]
  • PRDM2:PR/SET domain 2 [Gene - OMIM - HGNC]
  • PRAMEF10:PRAME family member 10 [Gene - HGNC]
  • PRAMEF11:PRAME family member 11 [Gene - HGNC]
  • PRAMEF12:PRAME family member 12 [Gene - HGNC]
  • PRAMEF13:PRAME family member 13 [Gene - HGNC]
  • PRAMEF14:PRAME family member 14 [Gene - HGNC]
  • PRAMEF15:PRAME family member 15 [Gene - HGNC]
  • PRAMEF16:PRAME family member 16 [Gene - HGNC]
  • PRAMEF17:PRAME family member 17 [Gene - HGNC]
  • PRAMEF18:PRAME family member 18 [Gene - HGNC]
  • PRAMEF19:PRAME family member 19 [Gene - HGNC]
  • PRAMEF1:PRAME family member 1 [Gene - HGNC]
  • PRAMEF20:PRAME family member 20 [Gene - HGNC]
  • PRAMEF25:PRAME family member 25 [Gene - HGNC]
  • PRAMEF26:PRAME family member 26 [Gene - HGNC]
  • PRAMEF27:PRAME family member 27 [Gene - HGNC]
  • PRAMEF2:PRAME family member 2 [Gene - HGNC]
  • PRAMEF33:PRAME family member 33 [Gene - HGNC]
  • PRAMEF4:PRAME family member 4 [Gene - HGNC]
  • PRAMEF5:PRAME family member 5 [Gene - HGNC]
  • PRAMEF6:PRAME family member 6 [Gene - HGNC]
  • PRAMEF7:PRAME family member 7 [Gene - HGNC]
  • PRAMEF8:PRAME family member 8 [Gene - HGNC]
  • PRAMEF9:PRAME family member 9 [Gene - HGNC]
  • RSG1:REM2 and RAB like small GTPase 1 [Gene - HGNC]
  • RNU5E-1:RNA, U5E small nuclear 1 [Gene - HGNC]
  • ARHGEF19:Rho guanine nucleotide exchange factor 19 [Gene - OMIM - HGNC]
  • SZRD1:SUZ RNA binding domain containing 1 [Gene - HGNC]
  • TARDBP:TAR DNA binding protein [Gene - OMIM - HGNC]
  • TMEM51-AS1:TMEM51 antisense RNA 1 [Gene - HGNC]
  • TNFRSF1B:TNF receptor superfamily member 1B [Gene - OMIM - HGNC]
  • TNFRSF8:TNF receptor superfamily member 8 [Gene - OMIM - HGNC]
  • UBIAD1:UbiA prenyltransferase domain containing 1 [Gene - OMIM - HGNC]
  • AGMAT:agmatinase [Gene - HGNC]
  • ANGPTL7:angiopoietin like 7 [Gene - HGNC]
  • AGTRAP:angiotensin II receptor associated protein [Gene - OMIM - HGNC]
  • ANO7L1:anoctamin 7 like 1 [Gene - HGNC]
  • AADACL3:arylacetamide deacetylase like 3 [Gene - HGNC]
  • AADACL4:arylacetamide deacetylase like 4 [Gene - HGNC]
  • CASP9:caspase 9 [Gene - OMIM - HGNC]
  • CLCN6:chloride voltage-gated channel 6 [Gene - OMIM - HGNC]
  • CLCNKA:chloride voltage-gated channel Ka [Gene - OMIM - HGNC]
  • CLCNKB:chloride voltage-gated channel Kb [Gene - OMIM - HGNC]
  • C1orf127:chromosome 1 open reading frame 127 [Gene - HGNC]
  • C1orf158:chromosome 1 open reading frame 158 [Gene - HGNC]
  • C1orf167:chromosome 1 open reading frame 167 [Gene - HGNC]
  • C1orf195:chromosome 1 open reading frame 195 [Gene - HGNC]
  • C1orf64:chromosome 1 open reading frame 64 [Gene - HGNC]
  • CTRC:chymotrypsin C [Gene - OMIM - HGNC]
  • CELA2A:chymotrypsin like elastase family member 2A [Gene - OMIM - HGNC]
  • CELA2B:chymotrypsin like elastase family member 2B [Gene - OMIM - HGNC]
  • DHRS3:dehydrogenase/reductase 3 [Gene - OMIM - HGNC]
  • DISP3:dispatched RND transporter family member 3 [Gene - OMIM - HGNC]
  • DRAXIN:dorsal inhibitory axon guidance protein [Gene - OMIM - HGNC]
  • EXOSC10:exosome component 10 [Gene - OMIM - HGNC]
  • FAM131C:family with sequence similarity 131 member C [Gene - HGNC]
  • FBLIM1:filamin binding LIM protein 1 [Gene - OMIM - HGNC]
  • FHAD1:forkhead associated phosphopeptide binding domain 1 [Gene - HGNC]
  • HSPB7:heat shock protein family B (small) member 7 [Gene - OMIM - HGNC]
  • HNRNPCL1:heterogeneous nuclear ribonucleoprotein C-like 1 [Gene - HGNC]
  • HNRNPCL2:heterogeneous nuclear ribonucleoprotein C-like 2 [Gene - HGNC]
  • HNRNPCL3:heterogeneous nuclear ribonucleoprotein C-like 3 [Gene - HGNC]
  • HNRNPCL4:heterogeneous nuclear ribonucleoprotein C-like 4 [Gene - HGNC]
  • KAZN:kazrin, periplakin interacting protein [Gene - HGNC]
  • LRRC38:leucine rich repeat containing 38 [Gene - OMIM - HGNC]
  • LINC01647:long intergenic non-protein coding RNA 1647 [Gene - HGNC]
  • LINC01784:long intergenic non-protein coding RNA 1784 [Gene - HGNC]
  • MASP2:mannan binding lectin serine peptidase 2 [Gene - OMIM - HGNC]
  • MTOR:mechanistic target of rapamycin [Gene - OMIM - HGNC]
  • MTHFR:methylenetetrahydrofolate reductase [Gene - OMIM - HGNC]
  • MIR4632:microRNA 4632 [Gene - HGNC]
  • MIR6729:microRNA 6729 [Gene - HGNC]
  • MIR6730:microRNA 6730 [Gene - HGNC]
  • MIR7846:microRNA 7846 [Gene - HGNC]
  • MIIP:migration and invasion inhibitory protein [Gene - OMIM - HGNC]
  • MFN2:mitofusin 2 [Gene - OMIM - HGNC]
  • MAD2L2:mitotic arrest deficient 2 like 2 [Gene - OMIM - HGNC]
  • NPPA:natriuretic peptide A [Gene - OMIM - HGNC]
  • NPPB:natriuretic peptide B [Gene - OMIM - HGNC]
  • PLEKHM2:pleckstrin homology and RUN domain containing M2 [Gene - OMIM - HGNC]
  • PDPN:podoplanin [Gene - OMIM - HGNC]
  • PLOD1:procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 [Gene - OMIM - HGNC]
  • RSC1A1:regulator of solute carriers 1 [Gene - OMIM - HGNC]
  • SNORA59A:small nucleolar RNA, H/ACA box 59A [Gene - HGNC]
  • SLC25A34:solute carrier family 25 member 34 [Gene - OMIM - HGNC]
  • SPEN:spen family transcriptional repressor [Gene - OMIM - HGNC]
  • SPATA21:spermatogenesis associated 21 [Gene - HGNC]
  • SRM:spermidine synthase [Gene - OMIM - HGNC]
  • TMEM51:transmembrane protein 51 [Gene - HGNC]
  • TMEM82:transmembrane protein 82 [Gene - HGNC]
  • UQCRHL:ubiquinol-cytochrome c reductase hinge protein like [Gene - HGNC]
  • LOC102724659:uncharacterized LOC102724659 [Gene]
  • LOC105376736:uncharacterized LOC105376736 [Gene]
  • FLJ37453:uncharacterized LOC729614 [Gene]
  • VPS13D:vacuolar protein sorting 13 homolog D [Gene - OMIM - HGNC]
  • ZBTB17:zinc finger and BTB domain containing 17 [Gene - OMIM - HGNC]
Variant type:
copy number loss
Cytogenetic location:
1p36.22-36.13
Genomic location:
Preferred name:
GRCh38/hg38 1p36.22-36.13(chr1:10809039-16422500)x1
HGVS:
  • NC_000001.11:g.(?_10809039)_(16422500_?)del
  • NC_000001.10:g.(?_10869096)_(16748995_?)del
  • NC_000001.9:g.(?_10791683)_(16621582_?)del
Links:
dbVar: nssv577186; dbVar: nsv532423
Observations:
1

Condition(s)

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

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000081128GeneDxcriteria provided, single submitter
Pathogenic
(Aug 12, 2011)
not providedclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes 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 GeneDx, SCV000081128.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1not providedyesnot providednot providedDiscovery1not providednot providednot provided

Last Updated: Jun 24, 2017