Author: twinkl22004

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)

Genomic coordinate (human 13:40,789,611 SLC25A15). Cytoband (human 13q14.11 SLC25A15). OMIM’ genes @ 13q14.11 = 12 genes. ClinVar = 454 SLC25A15 variants reported. PANTHER Classification of SLC25A15 is PTHR45624 “Transporter” PC00227.   Here I 🎁 present: “HHH (Hyperornithinemia-Hyperammonemia-Homocitrullinuria) Syndrome”, Victor McK­usick, Mendelian Inheritance in Man, 1966. (ORNT1) INTRODUCTION. ORNT1 (Mitochondrial Ornithine Transporter 1), also known as solute carrier family … Continue reading “HHH Syndrome”, Victor McK­usick, Mendelian Inheritance in Man, 1966. (ORNT1)

Genomic coordinate (human 13:77,895,487 EDNRB). Cytoband (human 13q22.3 EDNRB). OMIM’ genes @ 13q22.3 = 36 genes. ClinVar = 497 EDNRB variants reported. PANTHER Classification is “receptors” PTHR46099:SF3 Swallowtail chromosome-13 is 308 genes. Chromosome-13 Cytobands: WCWCCWG6BGBGB2GB2  ⠺ ⠉ ⠺ ⠉ ⠉ ⠺ ⠛⠼⠋ ⠃ ⠛ ⠃ ⠛ ⠃⠼⠃ ⠛ ⠃⠼⠃ Here I 🎁 present: “EDNRB in Hirschsprung Disease”, … Continue reading “EDNRB in Hirschsprung Disease”, Victor McKusick, Mendelian Inheritance in Man, 1966. (EDNRB)

  Genomic coordinate (human 13:99,981,784 ZIC2). Cytoband (human 13q32.3 ZIC2). OMIM’ genes @ 13q32.3 = 24 genes. ClinVar = 420 ZIC2 variants reported. PANTHER Classification is “transcription factor” —  PC00218. Swallowtail chromosome-13 is 308 genes. Chromosome-13 Cytobands: WCWCCWG6BGBGB2GB2  ⠺ ⠉ ⠺ ⠉ ⠉ ⠺ ⠛⠼⠋ ⠃ ⠛ ⠃ ⠛ ⠃⠼⠃ ⠛ ⠃⠼⠃ Here I  🎁 present: “ZIC2 in … Continue reading “ZIC2 in Holoprosencephaly-5”, Victor McKusick, Mendelian Inheritance in Man, 1966. (ZIC2)

Genomic coordinate (human 13:20,221,962 GJB6). Cytoband (human 13q12.11 GJB6). OMIM’ genes @ 13q12.11 = 22 genes. ClinVar = 327 GJB6 variants reported. PANTHER Classification of “connexins 30” is PTHR11984:SF23. Here I 🎁 present: “Clouston Hidrotic Ectodermal Dysplasia”, Victor McK­usick, Mendelian Inheritance in Man’, 1966. (GJB6) INTRODUCTION. Clouston hidrotic ectodermal dysplasia is a medical condition caused by mutations in a connexin-30 gene (GJB6), characterized by scalp hair that is wiry, … Continue reading “Clouston Hidrotic Ectodermal Dysplasia”, Victor McK­usick, Mendelian Inheritance in Man, 1966. (GJB6)