GRCh37/hg19 1p36.2(chr1:11797187-12229843)x3 AND Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing

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

Review status:(1/4)1 star out of maximum of 4 stars

classified by single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000051461.1

Allele description [Variation Report for GRCh37/hg19 1p36.2(chr1:11797187-12229843)x3]

Genes:
  • TNFRSF8:tumor necrosis factor receptor superfamily, member 8 [Gene - OMIM]
  • CLCN6:chloride channel, voltage-sensitive 6 [Gene - OMIM]
  • MTHFR:methylenetetrahydrofolate reductase (NAD(P)H) [Gene - OMIM]
  • NPPA:natriuretic peptide A [Gene - OMIM]
  • NPPB:natriuretic peptide B [Gene - OMIM]
  • PLOD1:procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1 [Gene - OMIM]
  • TNFRSF1B:tumor necrosis factor receptor superfamily, member 1B [Gene - OMIM]
  • MFN2:mitofusin 2 [Gene - OMIM]
  • AGTRAP:angiotensin II receptor-associated protein [Gene - OMIM]
  • MIIP:migration and invasion inhibitory protein [Gene - OMIM]
  • C1orf167:chromosome 1 open reading frame 167 [Gene]
Variant type:
copy number gain
Cytogenetic location:
1p36.2
Preferred name:
GRCh37/hg19 1p36.2(chr1:11797187-12229843)x3
HGVS:
NC_000001.10:g.(?_11797187)_(12229843_?)dup
Links:
dbVar: nsv529983
Observations:
1

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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Assertion and evidence details

Submission AccessionSubmitterReview StatusClinical Significance
(Last evaluated)
OriginMethodConsequenceCitations
SCV000078809International Standards For Cytogenomic Arrays Consortium (ISCA)classified by single submitterUncertain significance
(Aug 12, 2011)
not providedclinical testing

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

Summary from all submissions

EthnicityOriginAffectedAlleles observedFamiliesChromosomes testedNumber TestedFamily historyMethod
not providednot providedyes1not providednot providednot providednot providedclinical 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), SCV000078809.1

#EthnicityAlleles ObservedChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodVariant allelesAllele frequencyFamiliesCo-occurrences
1not providedyesnot providednot providedDiscovery1not providednot providednot provided

Last Updated: Aug 23, 2014

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