GRCh37/hg19 12q24.21(chr12:116064267-116750726)x1 AND not provided

Clinical significance:Pathogenic (Last evaluated: Jan 25, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000487467.1

Allele description [Variation Report for GRCh37/hg19 12q24.21(chr12:116064267-116750726)x1]

GRCh37/hg19 12q24.21(chr12:116064267-116750726)x1

Gene:
MED13L:mediator complex subunit 13L [Gene - OMIM - HGNC]
Variant type:
copy number loss
Cytogenetic location:
12q24.21
Genomic location:
Chr12: 116012278 - 116783516 (on Assembly GRCh37)
Preferred name:
GRCh37/hg19 12q24.21(chr12:116064267-116750726)x1
HGVS:
NC_000012.11:g.(116012278_116064267)_(116750726_116783516)del
Observations:
1

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000574559Clinical Genetics laboratory, University of Goettingencriteria provided, single submitter
Pathogenic
(Jan 25, 2017)
unknownclinical testing

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

Institute of Human Genetics, HUG, CNV Assertion criteria, 20170113.pdf

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyes11not provided1noclinical testing

Citations

PubMed

Redefining the MED13L syndrome.

Adegbola A, Musante L, Callewaert B, Maciel P, Hu H, Isidor B, Picker-Minh S, Le Caignec C, Delle Chiaie B, Vanakker O, Menten B, Dheedene A, Bockaert N, Roelens F, Decaestecker K, Silva J, Soares G, Lopes F, Najmabadi H, Kahrizi K, Cox GF, Angus SP, et al.

Eur J Hum Genet. 2015 Oct;23(10):1308-17. doi: 10.1038/ejhg.2015.26. Epub 2015 Mar 11.

PubMed [citation]
PMID:
25758992
PMCID:
PMC4592099

Novel de novo heterozygous loss-of-function variants in MED13L and further delineation of the MED13L haploinsufficiency syndrome.

Cafiero C, Marangi G, Orteschi D, Ali M, Asaro A, Ponzi E, Moncada A, Ricciardi S, Murdolo M, Mancano G, Contaldo I, Leuzzi V, Battaglia D, Mercuri E, Slavotinek AM, Zollino M.

Eur J Hum Genet. 2015 Nov;23(11):1499-504. doi: 10.1038/ejhg.2015.19. Epub 2015 Feb 25.

PubMed [citation]
PMID:
25712080
PMCID:
PMC4613466

Details of each submission

From Clinical Genetics laboratory, University of Goettingen, SCV000574559.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednoclinical testing PubMed (2)

Description

deletion comprises the MED13L gene that is associated with the MED13L haploinsufficiency syndrome (OMIM # 616789)

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyes1not providednot provided1not provided1not provided

Last Updated: Mar 7, 2021

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