GRCh37/hg19 1q21.1-21.2(chr1:145425195-147909235)x1 AND Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing

replaced

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Aug 12, 2011
Review status:: 1 star out of maximum of 4 stars
classified by single submitter

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:: RCV000053744.1

Allele description

GRCh37/hg19 1q21.1-21.2(chr1:145425195-147909235)x1

Genes:

BCL9:B-cell CLL/lymphoma 9 [Gene - OMIM]
FMO5:flavin containing monooxygenase 5 [Gene - OMIM]
GJA5:gap junction protein, alpha 5, 40kDa [Gene - OMIM]
GJA8:gap junction protein, alpha 8, 50kDa [Gene - OMIM]
PDZK1:PDZ domain containing 1 [Gene - OMIM]
PRKAB2:protein kinase, AMP-activated, beta 2 non-catalytic subunit [Gene - OMIM]
ITGA10:integrin, alpha 10 [Gene - OMIM]
PEX11B:peroxisomal biogenesis factor 11 beta [Gene - OMIM]
CHD1L:chromodomain helicase DNA binding protein 1-like [Gene - OMIM]
RBM8A:RNA binding motif protein 8A [Gene - OMIM]
PIAS3:protein inhibitor of activated STAT, 3 [Gene - OMIM]
POLR3C:polymerase (RNA) III (DNA directed) polypeptide C (62kD) [Gene]
TXNIP:thioredoxin interacting protein [Gene - OMIM]
CD160:CD160 molecule [Gene - OMIM]
RNF115:ring finger protein 115 [Gene]
ACP6:acid phosphatase 6, lysophosphatidic [Gene - OMIM]
GPR89B:G protein-coupled receptor 89B [Gene - OMIM]
POLR3GL:polymerase (RNA) III (DNA directed) polypeptide G (32kD)-like [Gene]
GNRHR2:gonadotropin-releasing hormone (type 2) receptor 2, pseudogene [Gene - OMIM]
LIX1L:Lix1 homolog (chicken) like [Gene]
ANKRD35:ankyrin repeat domain 35 [Gene]
NBPF12:neuroblastoma breakpoint family, member 12 [Gene - OMIM]
NBPF11:neuroblastoma breakpoint family, member 11 [Gene - OMIM]
NUDT17:nudix (nucleoside diphosphate linked moiety X)-type motif 17 [Gene]
ANKRD34A:ankyrin repeat domain 34A [Gene]
GPR89A:G protein-coupled receptor 89A [Gene - OMIM]
HYDIN2:HYDIN2, axonemal central pair apparatus protein (pseudogene) [Gene - OMIM]

Variant type:

copy number loss

Cytogenetic location:

1q21.1-21.2

Preferred name:

GRCh37/hg19 1q21.1-21.2(chr1:145425195-147909235)x1

HGVS:

NC_000001.10:g.(?_145425195)_(147909235_?)del

Links:

dbVar: nsv532402

Observations:

Condition(s)

Name:: Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing
Synonyms:: unexplained developmental delay/intellectual disability
Identifiers:: MedGen: CN130018

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000081107	International Standards For Cytogenomic Arrays Consortium (ISCA)	classified by single submitter	Pathogenic (Aug 12, 2011)	de novo	clinical testing	PubMed (2) [See all records that cite these PMIDs] 20466091, 21844811

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000081107

International Standards For Cytogenomic Arrays Consortium (ISCA)

classified by single submitter

Pathogenic
(Aug 12, 2011)

de novo

clinical testing

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	de novo	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

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 International Standards For Cytogenomic Arrays Consortium (ISCA), SCV000081107.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	clinical testing	PubMed (2)

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

Last Updated: Aug 24, 2014

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