GRCh37/hg19 12q24.21(chr12:116484240-116564043) AND multiple conditions

Clinical significance:Pathogenic (Last evaluated: Mar 15, 2021)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001352669.1

Allele description [Variation Report for GRCh37/hg19 12q24.21(chr12:116484240-116564043)]

GRCh37/hg19 12q24.21(chr12:116484240-116564043)

Gene:
MED13L:mediator complex subunit 13L [Gene - OMIM - HGNC]
Variant type:
copy number loss
Cytogenetic location:
12q24.21
Genomic location:
Chr12: 116484240 - 116564043 (on Assembly GRCh37)
Preferred name:
GRCh37/hg19 12q24.21(chr12:116484240-116564043)

Condition(s)

Name:
Global developmental delay (DD)
Synonyms:
Cognitive delay; Delayed cognitive development; Delayed development; See all synonyms [MedGen]
Identifiers:
MedGen: C0557874; Human Phenotype Ontology: HP:0001263
Name:
Generalized hypotonia
Synonyms:
Generalized muscular hypotonia; Decreased muscle tone; Low muscle tone
Identifiers:
MedGen: C1858120; Human Phenotype Ontology: HP:0001290

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001547237Medical Genetics Laboratory,CHRU Nancycriteria provided, single submitter
Pathogenic
(Mar 15, 2021)
de novoclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedde novoyesnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen).

Riggs ER, Andersen EF, Cherry AM, Kantarci S, Kearney H, Patel A, Raca G, Ritter DI, South ST, Thorland EC, Pineda-Alvarez D, Aradhya S, Martin CL.

Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6. Erratum in: Genet Med. 2021 Mar 17;:.

PubMed [citation]
PMID:
31690835
PMCID:
PMC7313390

Details of each submission

From Medical Genetics Laboratory,CHRU Nancy, SCV001547237.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1de novoyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 23, 2021

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