2 Matching Annotations
  1. Jan 2021
    1. Multiple Gene Variants in Hypertrophic Cardiomyopathy in the Era of Next-Generation Sequencing

      PMID: 28790153

      Gene: MYH7


    2. AJV

      CaseAJV: 17 years diagnosis, Australia

      DiseaseAssertion: Hypertrophic Cardiomyopathy

      FamilyInfo: Father (index case) died awaiting cardiac transplant (carried both variants). Two possibly affected relatives.

      CasePresentingHPOs: HP:0001639, HP:0006536

      (Hypertrophic cardiomyopathy, Obstructive lung disease)

      HPOsFreeText: Maximum left ventricular hypertrophy at 17 mm, Sudden cardiac death event at 17 years, Maximal wall thickness at 22mm,

      CaseNotHPOs: N/A

      NotHPOsFreeText: N/A

      CasePreviousTesting: See Table 1

      CaseGenotypingMethod: DNA was isolated from peripheral blood. Most participants underwent testing from the Illumina Cardiomyopathy Sequencing Panel, which includes 46 cardiomyopathy related genes. For others, whole exome sequencing or Sanger squencing was used. After the results were returned, variants were filtered for pathogenicity and rarity.

      Variant:NM_000257.3:c.1954A>G (p.Arg652Gly)

      ClinVarID:177626 https://www.ncbi.nlm.nih.gov/clinvar/variation/177626/

      gnomAD: Not in gnomAD

      Multiple Gene Variants:

      MYBPC3 Variant

      Variant: NM_000256.3:c.2980C>T (p.Leu994Phe)

      ClinVarID:180992 https://www.ncbi.nlm.nih.gov/clinvar/variation/180992/

      gnomAD: European (Non-Finnish) 1.624e-4, Overall 8.461e-5 https://gnomad.broadinstitute.org/variant/11-47355487-G-A