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Table 1 List of genes included in the HaloPlex Target Enrichment panel (next-generation gene panel)

From: Next-generation sequencing and a novel COL3A1 mutation associated with vascular Ehlers–Danlos syndrome with severe intestinal involvement: a case report

Gene OMIM Phenotype Chromosome
ADAMTS2 604539 EDS type VIIC chr5q.35.3
B4GALT7 604327 EDS progeroid type 1 chr5q35.3
CHST14 608429 EDS muscolocontractural type 1 chr15q15.1
COL3A1 120180 EDS type IV chr2q32.2
COL5A1 120215 EDS classic type chr9q34.3
COL5A2 120190 EDS classic type chr2q32.2
PLOD1 153454 EDS type VI chr1p36.22
PLOD3 603066 Lysyl hydroxylase 3 deficiency chr7q22.1
TNXB 600985 EDS due to tenascin X deficiency chr6p21.33
  1. EDS Ehlers–Danlos syndrome, OMIM Online Mendelian Inheritance in Man