Search results for "Clinical Utility Gene Card"

showing 2 items of 2 documents

Rubinstein-Taybi syndrome (CREBBP, EP300)

2011

1.2 OMIM# of the disease180849.1.3 Name of the analyzed genes or DNA/chromosome segmentsCREBBP, EP300 (E1A binding protein p300).1.4 OMIM# of the genes600140 (CREBBP), 602700 (EP300).1.5 Mutational spectrumMainly frameshift, nonsense, splice site and missense mutations. Lessfrequently large deletions (one or more exons) and rarely balancedinversions and translocations. Mutations are heterozygous, and mosaicmutations have been described. At present, more than 100 pathogenicmutations are known for the two genes together, but mutations inEP300 are much less common (only 11 so far).

Rubinstein-Taybi SyndromeGeneticsMutationRubinstein–Taybi syndromebiologymedicine.disease_causemedicine.diseaseCREB-Binding ProteinSensitivity and SpecificityMolecular biologyFrameshift mutationExonPredictive Value of TestsMutationClinical Utility Gene CardGeneticsmedicinebiology.proteinHumansMissense mutationCREB-binding proteinEP300E1A-Associated p300 ProteinGeneGenetics (clinical)
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Clinical utility gene card for: von Hippel-Lindau (VHL).

2013

von Hippel-Lindau Diseasemedicine.diagnostic_testGenotypeVon Hippel-Lindau Tumor Suppressor ProteinBiologyVon hippel lindaumedicine.diseasePhenotypeCyclin D1PhenotypeVon Hippel-Lindau Tumor Suppressor ProteinGenotypeClinical Utility Gene CardGeneticsmedicineCancer researchHumansCyclin D1Genetic TestingVon Hippel–Lindau diseaseGeneGenetics (clinical)Genetic testingEuropean journal of human genetics : EJHG
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