Regions of the genome assayed by the SignatureChip®
# | A | B | C | D | F | G | H | J | K | L | M | N | P | R | S | T | W | X
| Condition | OMIM# | Gene(s)/Locus | Location |
|---|---|---|---|
| 3q29 Microdeletion | 609425 | Multiple | 3q29 |
| 22q13.3 Microdeletion | 606232 | Multiple | 22q13.3 |
| Adrenal hypoplasia congenital/Dosage sensitive sex reversal * | 300200/ 300018 |
NR0B1 | Xp21.2 |
| Alagille | 118450 | JAG1 | 20p12.2 |
| Albright hereditary osteodystrophy-like syndrome/Brachydactyly-MR | 600430 | Multiple | 2q37.3 |
| Angelman * | 105830 | UBE3A | 15q11.2 |
| Aniridia II | 106210 | PAX6 | 11p13 |
| Beckwith-Wiedemann | 130650 | IGF2 | 11p15.5 |
| Blepharophimosis, ptosis epicanthus inversus (BPE) | 110100 | FOXL2 | 3q22.3 |
| Branchio-Oto-Renal (BOR)/Melnick-Fraser/Oto-Facio-Cervical (OFC) | 113650/ 166780 |
EYA1 | 8q13.3 |
| Campomelic dysplasia (CMPD) | 114290 | SOX9 | 17q24.3 |
| Cat-eye * | 115470 | Multiple | 22q11.1 |
| CHARGE | 214800 | CHD7 | 8q12.2 |
| Cleidocranial dysplasia (CCD) | 119600 | RUNX2 | 6p21.1 |
| Congenital diaphragmatic hernia (CDH) | 142340 | NR2F2 CHD2 |
15q26.2 |
| Cornelia de Lange | 122470 | NIPBL | 5p13.2 |
| Cri-du-Chat | 123450 | Multiple | 5p15.2 |
| Dandy-Walker malformation (DWM) | 220200 | ZIC1 ZIC4 |
3q24 |
| DiGeorge/Velocardiofacial (VCF) * | 188400 | HIRA TBX1 |
22q11.21 |
| DiGeorge 2 | 601362 | Multiple | 10p14 |
| Dosage sensitive sex reversal | 300018 | NR0B1 | Xp21.2 |
| Familial adenomatous polyposis (FAP)/Gardner/MR | 175100 | APC | 5q22.2 |
| Glycerol kinase deficiency | 300474 | GK | Xp21.2 |
| Greig cephalopolysyndactyly | 175700 | GLI3 | 7p14.1 |
| 236100 | TMEM1 | 21q22.3 | |
| 157170 | SIX3 | 2p21 | |
| 142945 | SHH | 7q36.3 | |
| 142946 | TGIF | 18p11.31 | |
| 609637 | ZIC2 | 13q32.3 | |
| 605934 | HPE6 | 2q37.1 -q37.3 | |
Basal cell nevus/Gorlin-goltz |
601309/ 109400 |
PTCH | 9q22.32 |
| Hypoparathyroidism, sensorineural deafness, renal disease (HDR) | 146255 | GATA3 | 10p14 |
| Jacobsen/11q terminal deletion disorder | 147791 | Multiple | 11q25 |
| Joubert 4/ Nephronophthisis 1 |
609583/ 256100 |
NPHP1 | 2q13 |
| Kallmann 1 | 308700 | KAL1 | Xp22.31 |
| Langer-Giedion | 150230 | EXT1 TRPS1 |
8q24.11 |
| Microphthalmia with linear skin defects | 309801 | multiple | Xp22.2 |
| Miller-Dieker/Lissencephaly 1 | 247200/ 607432 |
LIS1 | 17p13.3 |
| Monosomy 1p36 | 607872 | Multiple | 1p36 |
| Neurofibromatosis 1/MR | 162200 | NF1 | 17q11.2 |
| Noonan 1 | 163950 | PTPN11 | 12q24.13 |
| Pallister-Killian | 601803 | Multiple | 12p |
| Pelizaeus-Merzbacher * | 312080 | PLP1 | Xq22.2 |
Polycystic kidney disease/ |
601313/ 191100 |
PKD1 TSC2 |
16p13.3 |
| Potocki-Shaffer | 601224 | EXT2 ALX4 |
11p11.2 |
| Prader-Willi * | 176270 | SNRPN | 15q11.2 |
| Prader-Willi-like phenotype | 176270 | SIM1 | 6q16.3 |
| Retinoblastoma/MR | 180200 | RB1 | 13q14.2 |
| Rieger 1 (RIEG1) | 180500 | PITX2 | 4q25 |
| Rubinstein-Taybi | 180849 | CREBBP | 16p13.3 |
| Saethre-Chotzen | 101400 | TWIST1 | 7p21.1 |
| Smith-Magenis * | 182290 | RAI1 | 17p11.2 |
| Sotos | 117550 | NSD1 | 5q35.3 |
| Split-Hand/Foot Malformation 1 (SHFM1) | 183600 | SHFM1 | 7q21.3 |
| Split-Hand/Foot Malformation 3 (SHFM3) * | 600095 | FBXW4 | 10q24.32 |
| Split-Hand/Foot Malformation 4 (SHFM 4) | 605289 | TP73L | 3q28 |
| Split-Hand/Foot Malformation 5 (SHFM 5) | 606708 | DLX1 DLX2 |
2q31.1 |
| Steroid sulfatase deficiency | 308100 | STS | Xp22.31 |
| Synpolydactyly/Syndactyly II | 186000 | HOXD gene cluster | 2q31.1 |
| Trichorhinophalangeal 1 | 190350 | TRPS1 | 8q23.3 |
| WAGR | 194072 | PAX6 WT1 |
11p13 |
| Williams-Beuren * | 194050 | ELN | 7q11.23 |
| Wilms Tumor | 194070 | WT1 | 11p13 |
| Wolf-Hirschhorn | 194190 | Multiple | 4p16.3 |
| X-linked heterotaxy | 306955 | ZIC3 | Xq26.3 |
| X-linked lissencephaly | 300067 | DCX | Xq23 |
| X-linked mental retardation with isolated growth hormone deficiency * | 300123 | SOX3 | Xq27.1 |
| All 41 unique subtelomeric regions | multiple | 41 sites | |
| All 43 unique pericentromeric regions | multiple | 43 sites | |
| Aneuploidy for 24 chromosomes | multiple | 24 chromosomes | |
| * Duplications of these regions are associated with a syndrome/clinical phenotype. | |||