Tag: # Victor McKusick

ICD10 Code = H57.03 Genomic coordinate (human 13:94,400,001 MCOR). Cytoband (human 13q32.1 MCOR). OMIM’ genes @ 13q32.1 = 28 genes. ClinVar = 1 MCOR variants reported. PANTHER Classification is PTHR25232   Here I present: “Congenital Microcoria-miosis”, Victor McKusick, Mendelian Inheritance in Man’, 1966. INTRODUCTION. Inherited congenital microcoria, also referred to as congenital miosis, is characterized by bilateral … Continue reading “Congenital Microcoria-miosis ”, Victor McKusick, Mendelian Inheritance in Man’,1966. (MCOR)

IDC10 Code = E13.9 Genomic coordinate (human 13:27,920,000 PDX1). Cytoband (human 13q12.2 PDX1). OMIM’ genes @ 13q12.2 = 6 genes. ClinVar = 168 PDX1 variants reported. PANTHER Classification of PDX1 is PTHR45664 “Transcription factor” PC00264. Swallowtail chromosome-13 is 308 genes. Taylor-4 polynomial series. Cytoband Structure: WCWCCWG6BGBGB2GB2  ⠺ ⠉ ⠺ ⠉ ⠉ ⠺ ⠛⠼⠋ ⠃ ⠛ ⠃ ⠛ … Continue reading “Maturity-Onset Diabetes Young-4”, Victor McKusick, Mendelian Inheritance in Man, 1966. (PDX1)

IDC10 Code = D81.7 Genomic coordinate (human 13:36,819,222 RFXAP). Cytoband (human 13q13.3 RFXAP). OMIM’ genes @ 13q13.3 = 10 genes. ClinVar = 219 RFXAP variants reported, 52 pathogenic. PANTHER Classification of RFXAP is PTHR15110 “Transcription factor” PC00218. Swallowtail chromosome-13 is 308 genes. Taylor-4 polynomial series. Cytoband Structure: WCWCCWG6BGBGB2GB2  ⠺ ⠉ ⠺ ⠉ ⠉ ⠺ ⠛⠼⠋ ⠃ ⠛ ⠃ … Continue reading “MHC-2D4 deficiency”, Victor McKusick, Mendelian Inheritance in Man, 1966. (RFXAP)

  ICD10 Code = G71.0349 Genomic coordinate (human 13:23,160,508 SGCG). Cytoband (human 13q12.12 SGCG). OMIM’ genes @ 13q12.12 = 4 genes. ClinVar variants = SGCG 537 clinical (and 121 structural). PANTHER Classification of  SGCG is PTHR12939:SF4 “Cytoskeletal Protein” PC00085. Swallowtail chromosome-13 is 308 genes. Chromosome-13 Cytobands: WCWCCWG6BGBGB2GB2 ⠺ ⠉ ⠺ ⠉ ⠉ ⠺ ⠛⠼⠋ ⠃ ⠛ … Continue reading “Limb-Girdle Muscular Dystrophy (Sarcoglycanopathy)”, Victor McK­usick, Mendelian Inheritance in Man, 1966. (SGCG)

ICD10 code = C91.1 Genomic coordinate (human 13:49,912,705 DLEU2). Cytoband (human 13q14.2 DLEU2). OMIM’ genes @ 13q14.2 = 18 genes. ClinVar = 5 DLEU2 variants reported. PANTHER Classification of  DLEU2 is “Non-protein Coding” (Unclassified). Here I present: “Chronic B-cell Lymphocytic Leukemia”, Victor McKusick, Mendelian Inheritance in Man’, 1966. (DLEU2) INTRODUCTION. Chronic B-cell Lymphocytic Leukemia (CLL) is … Continue reading “Chronic B-cell Lymphocytic Leukemia”, Victor McKusick, Mendelian Inheritance in Man, 1966. (DLEU2)