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