MII Implementierungsleitfaden Kerndatensatz-Modul Molekulargenetischer Befundbericht
2027.0.0-ballot.1 - Germany

This page is part of the MII IG Kerndatensatz-Modul Molekulargenetischer Befundbericht (v2027.0.0-ballot.1: Release) based on FHIR (HL7® FHIR® Standard) R4. This is the current published version. For a full list of available versions, see the Directory of published versions

: Molekulargentischer Befund 2: Molekulargenetische Diagnose eines Cornelia de Lange-Syndrom autosomal dominanter Erbgang

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    <div xml:lang="de" lang="de"><hr/><p><b>German</b></p><hr/><p class="res-header-id"><b>Generated Narrative: DiagnosticReport mii-exa-molgen-befundbericht-2</b></p><a name="de-mii-exa-molgen-befundbericht-2"> </a><a name="de-hcmii-exa-molgen-befundbericht-2"> </a><div style="display: inline-block; background-color: #d9e0e7; padding: 6px; margin: 4px; border: 1px solid #8da1b4; border-radius: 5px; line-height: 60%"><p style="margin-bottom: 0px"/><p style="margin-bottom: 0px">Profiles: <a href="StructureDefinition-mii-pr-molgen-molekulargenetischer-befundbericht.html">MII PR MolGen Molekulargenetischer Befundbericht</a> version: 2027.0.0-ballot.1, <a href="http://hl7.org/fhir/uv/genomics-reporting/STU3/StructureDefinition-genomic-report.html">Genomic Report</a> version: 3.0.0</p></div><h2><span title="Codes:{http://loinc.org 51969-4}">Genetic analysis report</span> (<span title="Codes:{http://terminology.hl7.org/CodeSystem/v2-0074 GE}">Genetics</span>) </h2><table class="grid"><tr><td>Subject</td><td>Melanie Marie Müller (official) Female, DoB: 2021-09-19 ( Krankenaktennummer (use: usual, ))</td></tr><tr><td>Performer</td><td> <a href="Practitioner-mii-exa-molgen-practitioner-lab.html">Practitioner Dr. Daniel Schmidt(official)</a></td></tr></table><p><b>Report Details</b></p><table class="grid"><tr><td><b>Code</b></td><td><b>Value</b></td><td><b>Flags</b></td><td><b>Relevant Time</b></td></tr><tr><td><a href="Observation-mii-exa-molgen-diagnostische-implikation-2.html"><span title="Codes:{http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs diagnostic-implication}">Diagnostic Implication</span></a></td><td/><td>Final</td><td>2022-03-16</td></tr><tr><td><a href="Observation-mii-exa-molgen-variante-2.html"><span title="Codes:{http://loinc.org 69548-6}">Genetic variant assessment</span></a></td><td><span title="Codes:{http://loinc.org LA9633-4}">Present</span></td><td>Final</td><td>2022-03-16</td></tr></table><p>Nachweis der pathogenen Variante c.2207del p.(Pro736Glnfs*58) (heterozygot) im NIPBL-Gen.</p></div>
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                value="Gillis LA, McCallum J, Kaur M, DeScipio C, Yaeger D, Mariani A, Kline AD, Li HH, Devoto M, Jackson LG, Krantz ID. NIPBL mutational analysis in 120 individuals with Cornelia de Lange syndrome and evaluation of genotype-phenotype correlations. Am J Hum Genet. 2004 Oct;75(4):610-23. doi: 10.1086/424698. Epub 2004 Aug 18. PMID: 15318302; PMCID: PMC1182048."/>
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                value="Huisman SA, Redeker EJ, Maas SM, Mannens MM, Hennekam RC. High rate of mosaicism in individuals with Cornelia de Lange syndrome. J Med Genet. 2013 May;50(5):339-44. doi: 10.1136/jmedgenet-2012-101477. Epub 2013 Mar 15. PMID: 23505322."/>
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            value="Gen-Panel zusammengestellt nach den aktuellen Empfehlungen des Deutschen Konsortiums für erblichen Brust- und Eierstockkrebs sowie der ClinGen Breast/Ovarian Cancer Working Group (Lee et al. 2019, PMID: 30504931). Nach DNA-Extraktion wurden alle kodierenden Exons der zu untersuchenden Gene einschließlich flankierender intronischer Regionen (mindestens von -3 bis +8) angereichert (Custom Panel V02, IDT) und auf einem Illumina NextSeq 500-, NextSeq 550- oder NovaSeq 6000-Sequencer sequenziert. Zur Verifizierung der DNA-Probe wurden 14 SNPs (Single Nucleotide Polymorphism) mittels kompetitiver allelspezifischer PCR unter Verwendung fluoreszenzmarkierter Primer amplifiziert (StepOnePlus System, ThermoFisher Scientific) und analysiert (StepOnePlus software für Genotyping Experiments) und die Ergebnisse mit den Daten der NGS-Analyse verglichen (megSAP). Der Abgleich der ermittelten DNA-Sequenz erfolgte mit den in den Gendatenbanken niedergelegten Sequenzen: BRCA1 - NCBI Reference Sequence NM_007294.2, BRCA2 - ensembl ENST00000380152, ATM - NCBI Reference Sequence NM_000051.3, BARD1 - ENST00000260947.4, BRIP1 - NCBI Reference Sequence NM_032043.2, CDH1 - ensembl ENST00000261769, CHEK2 - NCBI Reference Sequence NM_007194.3, PALB2 - ensembl ENST00000261584, PTEN -  NCBI Reference Sequence NM_000214.4, RAD51C - ensembl ENST00000337432, RAD51D - ensembl ENST00000345365,  STK11 -  ensembl ENST00000326873.7 und TP53 - ensembl ENST00000269305. Es wurden außerdem Varianten nachgewiesen, die nach heutigem Wissensstand als Normvarianten ohne pathologische Bedeutung zu werten sind."/>
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