GRCh37/hg19 18q21.2-23(chr18:50224898-78014123)x1 AND See cases

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Aug 18, 2014
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:: RCV000510720.3

Allele description [Variation Report for GRCh37/hg19 18q21.2-23(chr18:50224898-78014123)x1]

GRCh37/hg19 18q21.2-23(chr18:50224898-78014123)x1

Genes:

KDSR:3-ketodihydrosphingosine reductase [Gene - OMIM - HGNC]
ADNP2:ADNP homeobox 2 [Gene - OMIM - HGNC]
ATP8B1:ATPase phospholipid transporting 8B1 [Gene - OMIM - HGNC]
ATP9B:ATPase phospholipid transporting 9B (putative) [Gene - OMIM - HGNC]
BCL2:BCL2 apoptosis regulator [Gene - OMIM - HGNC]
CD226:CD226 molecule [Gene - OMIM - HGNC]
CTDP1:CTD phosphatase subunit 1 [Gene - OMIM - HGNC]
DCC:DCC netrin 1 receptor [Gene - OMIM - HGNC]
POLI:DNA polymerase iota [Gene - OMIM - HGNC]
FBXO15:F-box protein 15 [Gene - OMIM - HGNC]
MALT1:MALT1 paracaspase [Gene - OMIM - HGNC]
NEDD4L:NEDD4 like E3 ubiquitin protein ligase [Gene - OMIM - HGNC]
PHLPP1:PH domain and leucine rich repeat protein phosphatase 1 [Gene - OMIM - HGNC]
RELCH:RAB11 binding and LisH domain, coiled-coil and HEAT repeat containing [Gene - OMIM - HGNC]
RAB27B:RAB27B, member RAS oncogene family [Gene - OMIM - HGNC]
SEC11C:SEC11 homolog C, signal peptidase complex subunit [Gene - HGNC]
ST8SIA3:ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 3 [Gene - OMIM - HGNC]
STARD6:StAR related lipid transfer domain containing 6 [Gene - OMIM - HGNC]
TNFRSF11A:TNF receptor superfamily member 11a [Gene - OMIM - HGNC]
WDR7:WD repeat domain 7 [Gene - OMIM - HGNC]
ALPK2:alpha kinase 2 [Gene - OMIM - HGNC]
NARS1:asparaginyl-tRNA synthetase 1 [Gene - OMIM - HGNC]
BOD1L2:biorientation of chromosomes in cell division 1 like 2 [Gene - HGNC]
CDH19:cadherin 19 [Gene - OMIM - HGNC]
CDH20:cadherin 20 [Gene - OMIM - HGNC]
CDH7:cadherin 7 [Gene - OMIM - HGNC]
CNDP1:carnosine dipeptidase 1 [Gene - OMIM - HGNC]
CNDP2:carnosine dipeptidase 2 [Gene - OMIM - HGNC]
CBLN2:cerebellin 2 precursor [Gene - OMIM - HGNC]
C18orf54:chromosome 18 open reading frame 54 [Gene - OMIM - HGNC]
C18orf63:chromosome 18 open reading frame 63 [Gene - HGNC]
CCDC102B:coiled-coil domain containing 102B [Gene - HGNC]
CCDC68:coiled-coil domain containing 68 [Gene - OMIM - HGNC]
CCBE1:collagen and calcium binding EGF domains 1 [Gene - OMIM - HGNC]
CPLX4:complexin 4 [Gene - OMIM - HGNC]
CYB5A:cytochrome b5 type A [Gene - OMIM - HGNC]
DSEL:dermatan sulfate epimerase like [Gene - OMIM - HGNC]
DIPK1C:divergent protein kinase domain 1C [Gene - OMIM - HGNC]
DOK6:docking protein 6 [Gene - OMIM - HGNC]
DYNAP:dynactin associated protein [Gene - OMIM - HGNC]
FECH:ferrochelatase [Gene - OMIM - HGNC]
GALR1:galanin receptor 1 [Gene - OMIM - HGNC]
GRP:gastrin releasing peptide [Gene - OMIM - HGNC]
HSBP1L1:heat shock factor binding protein 1 like 1 [Gene - HGNC]
HMSD:histocompatibility minor serpin domain containing [Gene - OMIM - HGNC]
LMAN1:lectin, mannose binding 1 [Gene - OMIM - HGNC]
LINC01415:long intergenic non-protein coding RNA 1415 [Gene - HGNC]
LINC01879:long intergenic non-protein coding RNA 1879 [Gene - HGNC]
LINC00683:long intergenic non-protein coding RNA 683 [Gene - HGNC]
LINC-ROR:long intergenic non-protein coding RNA, regulator of reprogramming [Gene - OMIM - HGNC]
MC4R:melanocortin 4 receptor [Gene - OMIM - HGNC]
MBD2:methyl-CpG binding domain protein 2 [Gene - OMIM - HGNC]
MIR122:microRNA 122 [Gene - OMIM - HGNC]
MBP:myelin basic protein [Gene - OMIM - HGNC]
NETO1:neuropilin and tolloid like 1 [Gene - OMIM - HGNC]
NFATC1:nuclear factor of activated T cells 1 [Gene - OMIM - HGNC]
ONECUT2:one cut homeobox 2 [Gene - OMIM - HGNC]
PARD6G:par-6 family cell polarity regulator gamma [Gene - OMIM - HGNC]
PMAIP1:phorbol-12-myristate-13-acetate-induced protein 1 [Gene - OMIM - HGNC]
PIGN:phosphatidylinositol glycan anchor biosynthesis class N [Gene - OMIM - HGNC]
KCNG2:potassium voltage-gated channel modifier subfamily G member 2 [Gene - OMIM - HGNC]
PTGR3:prostaglandin reductase 3 [Gene - OMIM - HGNC]
RAX:retina and anterior neural fold homeobox [Gene - OMIM - HGNC]
RBFA:ribosome binding factor A [Gene - OMIM - HGNC]
RNF152:ring finger protein 152 [Gene - OMIM - HGNC]
RTTN:rotatin [Gene - OMIM - HGNC]
SERPINB10:serpin family B member 10 [Gene - OMIM - HGNC]
SERPINB11:serpin family B member 11 [Gene - OMIM - HGNC]
SERPINB12:serpin family B member 12 [Gene - OMIM - HGNC]
SERPINB13:serpin family B member 13 [Gene - OMIM - HGNC]
SERPINB2:serpin family B member 2 [Gene - OMIM - HGNC]
SERPINB3:serpin family B member 3 [Gene - OMIM - HGNC]
SERPINB4:serpin family B member 4 [Gene - OMIM - HGNC]
SERPINB5:serpin family B member 5 [Gene - OMIM - HGNC]
SERPINB7:serpin family B member 7 [Gene - OMIM - HGNC]
SERPINB8:serpin family B member 8 [Gene - OMIM - HGNC]
SMIM21:small integral membrane protein 21 [Gene - HGNC]
SLC66A2:solute carrier family 66 member 2 [Gene - HGNC]
SALL3:spalt like transcription factor 3 [Gene - OMIM - HGNC]
SOCS6:suppressor of cytokine signaling 6 [Gene - OMIM - HGNC]
TSHZ1:teashirt zinc finger homeobox 1 [Gene - OMIM - HGNC]
TXNL1:thioredoxin like 1 [Gene - OMIM - HGNC]
TXNL4A:thioredoxin like 4A [Gene - OMIM - HGNC]
TMX3:thioredoxin related transmembrane protein 3 [Gene - OMIM - HGNC]
TCF4:transcription factor 4 [Gene - OMIM - HGNC]
TIMM21:translocase of inner mitochondrial membrane 21 [Gene - OMIM - HGNC]
VPS4B:vacuolar protein sorting 4 homolog B [Gene - OMIM - HGNC]
ZCCHC2:zinc finger CCHC-type containing 2 [Gene - OMIM - HGNC]
ZNF236:zinc finger protein 236 [Gene - OMIM - HGNC]
ZNF407:zinc finger protein 407 [Gene - OMIM - HGNC]
ZNF516:zinc finger protein 516 [Gene - OMIM - HGNC]
ZNF532:zinc finger protein 532 [Gene - OMIM - HGNC]

Variant type:

copy number loss

Cytogenetic location:

18q21.2-23

Genomic location:

Chr18: 50224898 - 78014123 (on Assembly GRCh37)

Preferred name:

GRCh37/hg19 18q21.2-23(chr18:50224898-78014123)x1

HGVS:

NC_000018.9:g.(?_50224898)_(78014123_?)del

Links:

dbVar: nssv14082117; dbVar: nsv3109705

Observations:

Condition(s)

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

Recent activity

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PREDICTED: Homo sapiens catenin delta 2 (CTNND2), transcript variant X3, mRNA
PREDICTED: Homo sapiens catenin delta 2 (CTNND2), transcript variant X3, mRNA
gi|2217354582|ref|XM_011513967.3|

Nucleotide
inactive ubiquitin thioesterase OTULINL isoform X1 [Homo sapiens]
inactive ubiquitin thioesterase OTULINL isoform X1 [Homo sapiens]
gi|2217356227|ref|XP_047273279.1|

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000586239	ISCA site 1 See additional submitters International Standards For Cytogenomic Arrays Consortium (ISCA)	no assertion criteria provided	Likely pathogenic (Aug 18, 2014)	unknown	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000586239

ISCA site 1

See additional submitters

no assertion criteria provided

Likely pathogenic
(Aug 18, 2014)

unknown

clinical testing

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
human	not provided	yes	1	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies.

Miller DT, Adam MP, Aradhya S, Biesecker LG, Brothman AR, Carter NP, Church DM, Crolla JA, Eichler EE, Epstein CJ, Faucett WA, Feuk L, Friedman JM, Hamosh A, Jackson L, Kaminsky EB, Kok K, Krantz ID, Kuhn RM, Lee C, Ostell JM, Rosenberg C, et al.

Am J Hum Genet. 2010 May 14;86(5):749-64. doi: 10.1016/j.ajhg.2010.04.006. Review.

PubMed [citation]

PMID:: 20466091
PMCID:: PMC2869000

Details of each submission

From ISCA site 1, SCV000586239.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	human	1	not provided	not provided	clinical testing	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	unknown	yes	not provided	not provided	Discovery		1	not provided	not provided	not provided

Last Updated: May 7, 2024

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