Author: twinkl22004

IDC1O Code = D68.2 Genomic coordinate (human 13:113,105,791 F7 & 13:113,122,799 F10). Cytoband (human 13q34 F7&F10). OMIM’ genes @ 13q34 = 16 genes. F7&F10 are classified as “Protease” PC00190 in PANTHER. ClinVar = 351 F7 & 135 F10 variants reported. Swallowtail chromosome-13 is 308 genes. Chromosome-13 Cytobands: WCWCCWG6BGBGB2GB2 ⠺ ⠉ ⠺ ⠉ ⠉ ⠺ ⠛⠼⠋ ⠃ ⠛ ⠃ ⠛ … Continue reading “F7-and-F10 Coagulation Locus 13q34”, Victor McKusick, Mendelian Inheritance in Man, 1966. (F7&F10)

IDC10 Code = E75.4 Genomic coordinate (human 13:76,992,081 CLN5). Cytoband (human 13q22.3 CLN5 ). ClinVar = 776 variants reported, 140 pathogenic. OMIM’ genes @ 13q22.3 = 36 genes. Bis (monoacylglycero) phosphate synthase is CLN5, and classified PTHR15380 in PANTHER. Enzyme Commission # = EC #3.1.2.22 Swallowtail chromosome-13 is 308 genes. Chromosome-13 Cytobands: WCWCCWG6BGBGB2GB2 ⠺ ⠉ ⠺ ⠉ ⠉ ⠺ ⠛⠼⠋ ⠃ ⠛ ⠃ … Continue reading “Neuronal Ceroid Lipofuscinosis”, Victor McK­usick, Mendelian Inheritance in Man, 1966.

  IDC10 Code = K90.89 Genomic coordinate (human 13:103,043,998 SLC10A2). Cytoband (human 13q33.1 SLC10A2). ClinVar = 378 SLC10A2 variants reported, 75 pathogenic. OMIM’ genes @ 13q33.1 = 22 genes. SLC10A2 is a Na⁺/bile-acid cotransporter, classification PC00227 in PANTHER. Swallowtail chromosome-13 is 308 genes. Chromosome-13 Cytobands: WCWCCWG6BGBGB2GB2 ⠺ ⠉ ⠺ ⠉ ⠉ ⠺ ⠛⠼⠋ ⠃ ⠛ ⠃ ⠛ ⠃⠼⠃ ⠛ … Continue reading “Primary Bile Acid Malabsorption”, Victor McKusick, Mendelian Inheritance in Man, 1966. (SLC10A2)

Genomic coordinate  (human 13:32,315,077 BRCA2). Cytoband (human 13q13.1 BRCA2). BRCA2 is a “nucleic acid binding protein” PANTHER = PC00171. ClinVar = 17,000 BRCA2 variants reported, with 5,000 variants of uncertaint significance. OMIM’ genes @ 13q13.1 = 8 genes. Intraband %= 39.7% BRCA2  Swallowtail chromosome-13 is 308 genes. Cytoband Position (0.4 = human 13q13.1). Chromosome-13 Cytobands: WCWCCWG6BGBGB2GB2 ⠺ … Continue reading “BRCA2-pleiotropy on 13q13.1”, Victor McKusick, Mendelian Inheritance in Man, 1966. (BRCA2)

Genomic coordinate (human 12:52,674,736 KRT1) Cytoband  (human 12q13.13 KRT1). Here I present: “White Sponge Nevus”, Victor McKusick, Mendelian Inheritance in Man’, 1966. (KRT1) INTRODUCTION. White sponge nevus (WSN) is an autosomal dominant  condition of the oral mucosa (the mucous membrane lining of the mouth). It is caused by one or more mutations in genes coding for keratin, which causes a defect in the … Continue reading “White Sponge Nevus”, Victor McKusick, Mendelian Inheritance in Man, 1966. (KRT1)