Disorders Tested by the Signature PrenatalChip®TE
Clinically recognized regions of the genome assayed by
the Signature PrenatalChip®TE (Targeted Enhanced)(v2)
The Signature PrenatalChip®TE may identify copy number changes associated with genetic conditions, including adult-onset conditions and/or cancer predisposition syndromes, that are potentially unrelated to the current clinical findings but that may become apparent later in life. In addition, if there is a family history of a known or suspected genetic condition unrelated to the reason for testing, please contact the laboratory to discuss prior to sample submission.
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A | B | C | D | F | G | H | I | J | K | L | M | N | O | P | R | S | T | W | X
| Disorder | OMIM# | Gene(s)/Locus | Location |
|---|---|---|---|
| 1p36 Microdeletion * | 607872 | Multiple | 1p36 |
| 1q21.1 Distal microdeletion * | 612474 | Multiple ACP6 candidate GJA5 candidate GJA8 candidate |
1q21.1 |
| 1q21.1 Microdeletion with susceptibility for thrombocytopenia-absent radius (TAR) | 274000 | Multiple | 1q21.1 |
| 1q41-q42 Microdeletion/Fryns | 612530/ 229850 |
Multiple | 1q41-q42 |
| 1q44 Microdeletion | Multiple AKT3 candidate |
1q44 | |
| 2p15-p16.1 Microdeletion | 612513 | Multiple | 2p15-p16.1 |
| 2p16.3 Microdeletion/Pitt-Hopkins-like 2 * | 600565 | NRXN1 | 2p16.3 |
| 2p21 Microdeletion, autosomal recessive | 606407 | Multiple | 2p21 |
| 2q23.1 Microdeletion | MBD5 EPC2 |
2q23.1 | |
| 2q32.2-q33 Microdeletion | 119540 | Multiple SATB2 candidate |
2q33.1 |
| 3q29 Microdeletion | 609425 | Multiple | 3q29 |
| 3q29 Microduplication * | 611936 | Multiple | 3q29 |
| 5p13.2 Microduplication * | 613174 | NIPBL | 5p13.2 |
| 5q35.2-q35.3 Microduplication * | NSD1 | 5q35.2-q35.3 | |
| 6p25.3 Microdeletion | 612582 | Multiple | 6p25.3 |
| 6q24.3 Microdeletion | 612863 | Multiple | 6q24.3 |
| 6q25.2-q25.3 Microdeletion | 612863 | Multiple | 6q25.2-q25.3 |
| 7q11.23 Microduplication * | 609757 | Multiple | 7q11.23 |
| 8p23.1 Microdeletion/ Congenital diaphragmatic hernia 2 (CDH2) |
222400 | Multiple GATA4 candidate |
8p23.1 |
| 8p23.1 Microduplication * | Multiple GATA4 candidate |
8p23.1 | |
| 8q12 Microduplication * | Multiple CHD7 candidate |
8q12.1-q12.3 | |
| 9q22.32-q22.33 Microdeletion | Multiple TGFBR1 candidate GABBR2 candidate |
9q22.32-q22.33 | |
| 9q34 Microdeletion/ Kleefstra * |
610253 | EHMT1 | 9q34.3 |
| 10q22.3-q23.31 Microdeletion | Multiple | 10q22.3-q23.31 | |
| 12q14.1-q15 Microdeletion * | Multiple LEMD3 candidate GRIP1 candidate HMGA2 candidate |
12q14.1-q15 | |
| 12q14.3-related primordial dwarfism/ Russell-Silver-like |
HMGA2 | 12q14.3 | |
| 12q24.21-q24.23 Microduplication * | Multiple | 12q24.21-q24.23 | |
| 14q11.2 Microdeletion | Multiple CHD8 candidate SUPT16H candidate |
14q11.2 | |
| 14q12 Microduplication * | 164874 | Multiple FOXG1 candidate |
14q12 |
| 14q22-q23 Microdeletion | Multiple | 14q22-q23 | |
| 14q32.2
Microdeletion causing upd(14)mat phenotype |
Multiple DLK1 candidate RTL1 candidate |
14q32.2 | |
| 14q32.2
Microdeletion causing upd(14)pat phenotype |
608149 | Multiple MEG3 candidate MEG8 candidate RTL1 candidate |
14q32.2 |
| 15q11-q13 Microduplication * | 608636 | Multiple | 15q11-q13 |
| 15q13.3 Microdeletion * | 612001 | Multiple CHRNA7 candidate |
15q13.3 |
| 15q24.1-q24.2 Microdeletion | 613406 | Multiple | 15q24.1-q24.2 |
| 15q24.1-q24.2 Microduplication * | 613406 | Multiple | 15q24.1-q24.2 |
| 16p11.2 Microdeletion * | 611913 | Multiple | 16p11.2 | 16p11.2-p12.2 Microdeletion * | 613604 | Multiple | 16p11.2-p12.2 |
| 16p12.1 Microdeletion | Multiple CDR2 candidate EEF2K candidate UQCRC2 candidate |
16p12.1 | |
| 16p13.11 Microdeletion * | Multiple | 16p13.1 | |
| 16p13.3
Microdeletion/ Severe Rubinstein-Taybi |
610543 | Multiple CREBBP |
16p13.3 |
| 16p13.3 Microduplication * | 613458 | CREBBP | 16p13.3 |
| 16q11.2-q12.2 Microdeletion | Multiple SALL1 candidate ZNF423 candidate |
16q11.2-q12.2 | |
| 17p13.1 Microdeletion | 613776 | Multiple TP53 |
17p13.1 |
| 17p13.3 Distal microdeletion | YWHAE CRK |
17p13.3 | |
| 17p13.3 Distal microduplication, not including lissencephaly region (PAFAH1B1) * | 613215 | YWHAE CRK |
17p13.3 |
| 17p13.3
Proximal microduplication, including lissencephaly region (PAFAH1B1) * |
613215 | PAFAH1B1
(LIS1) YWHAE CRK |
17p13.3 |
| 17q12 Microduplication * | Multiple HNF1B candidate LHX1 candidate |
17q12 | |
| 17q21.31 Microdeletion | 610443 | Multiple MAPT candidate |
17q21.31 |
| 17q21.31 Microduplication * | 613533 | Multiple | 17q21.31 |
| 17q23.1-q23.2 Microdeletion * | 613355 | Multiple TBX2 candidate TBX4 candidate |
17q23.1-q23.2 |
| 19q13.11 Microdeletion | 613026 | Multiple LSM14A candidate UBA2 candidate |
19q13.11 |
| 22q11.2 Distal microdeletion * | 611867 | Multiple | 22q11.2 |
| 22q11.21 Microduplication * | 608363 | Multiple TBX1 candidate |
22q11.21 |
| 22q13.3 Microdeletion * | 606232 | Multiple SHANK3 candidate |
22q13.3 |
| Xp11.22-p11.23 Microduplication * | 300801 | Multiple | Xp11.22-p11.23 |
| Xp11.22-linked intellectual disability/ Mental retardation 17, X-linked/ Mental retardation 31, X-linked * |
300705 | Multiple HSD17B10 candidate HUWE1 candidate |
Xp11.22 |
| Xp11.3 Microdeletion | 300578 | Multiple RP2 candidate ZNF674 candidate |
Xp11.3 |
| Xp11.4-p21.2 Contiguous gene deletion | Multiple IL1RAPL1 OTC |
Xp11.4-p21.2 | |
| Xq28 Microduplication * | 300815 | Multiple GDI1 candidate IKBKG candidate |
Xq28 |
| (Back to top) | |||
| A | |||
| Adrenal hypoplasia congenita, X-linked (AHC) | 300200 | NR0B1 | Xp21.2 |
| Agammaglobulinemia,
X-linked/ Bruton agammaglobulinemia, X-linked |
300755 | BTK | Xq22.1 |
| Alagille | 118450 | JAG1 | 20p12.2 |
| Albright
hereditary osteodystrophy-like/ Brachydactyly with intellectual
disability/ 2q37 Microdeletion |
600430 | HDAC4 | 2q37.3 |
| Alpha
thalassemia with intellectual disability (AT-ID) |
141750 | Multiple HBA1 HBA2 SOX8 candidate |
16p13.3 |
| Alport, X-linked (ATS) | 301050 | COL4A5 | Xq22.3 |
| Alport plus diffuse leiomyomatosis, X-linked (ATS-DL) | 301050 | COL4A5 COL4A6 |
Xq22.3 |
| Androgen insensitivity, X-linked | 300068 | AR | Xq12 |
| Angelman | 105830 | UBE3A | 15q11.2 |
| Aniridia II | 106210 | PAX6 | 11p13 |
| ANKRD11
haploinsufficiency/ 16q24.3 Microdeletion |
ANKRD11 | 16q24.3 | |
| Atrial septal defect (ASD) with atrioventricular conduction defects | 108900 | NKX2-5 | 5q35.2 |
| Autism with intellectual disability, SHANK2-related | 613436 | SHANK2 | 11q13.3 |
| (Back to top) | |||
| B | |||
| Bannayan-Riley-Ruvalcaba (BRRS)/ PTEN hamartoma tumor |
153480 | PTEN | 10q23.31 |
| Basal cell nevus/Gorlin-Goltz | 109400 | PTCH1 | 9q22.32 |
| Beckwith-Wiedemann, IGF2-related * | 130650 | IGF2 | 11p15.5 |
| Beckwith-Wiedemann, KCNQ1OT1-related | 130650 | KCNQ1OT1 | 11p15.5 |
| Benign neonatal epilepsy | 121200 | KCNQ2 | 20q13.33 |
| Beta thalassemia | 141900 | HBB | 11p15.4 |
| Bilateral
frontoparietal polymicrogyria, autosomal recessive (BFPP) |
606854 | GPR56 | 16q13 |
| Blepharophimosis, ptosis epicanthus inversus (BPE) | 110100 | FOXL2 | 3q22.3 |
| Boston-type
craniosynostosis/ Craniosynostosis type 2 * |
604757 | MSX2 | 5q35.2 |
| Branchio-oto-renal
(BOR)/ Melnick-Fraser |
113650 | EYA1 | 8q13.3 |
| (Back to top) | |||
| C | |||
| Campomelic dysplasia (CMPD) | 114290 | SOX9 | 17q24.3 |
| Cat-eye * | 115470 | Multiple | 22q11.1 |
| Cerebellar hypoplasia, VLDLR-related, autosomal recessive / Hutterite dysequilibrium, autosomal recessive |
224050 | VLDLR | 9p24.2 |
| Cerebral cavernous malformations, type 1 (CCM1) | 116860 | KRIT1 | 7q21.2 |
| Cerebral cavernous malformations, type 2 (CCM2) | 603284 | CCM2 | 7p13 |
| Cerebral cavernous malformations, type 3 (CCM3) | 603285 | PDCD10 | 3q26.1 |
| CHARGE | 214800 | CHD7 | 8q12.2 |
| Chondrodysplasia 1, X-linked (CDPX1) | 302950 | ARSE | Xp22.33 |
| Choroideremia, X-linked | 303100 | CHM | Xq21.2 |
| Chronic granulomatous disease, X-linked | 306400 | CYBB | Xp11.4 |
| Cleidocranial dysplasia (CCD) | 119600 | RUNX2 | 6p12.3 |
| Cohen, autosomal recessive * | 216550 | VPS13B | 8q22.2 |
| Congenital diaphragmatic hernia (CDH) | 142340 | Multiple CHD2 candidate NR2F2 candidate |
15q26.1-q26.3 |
| Congenital hemidysplasia with ichthyosiform erythroderma & limb defects (CHILD) | 308050 | NSDHL | Xq28 |
| Cornelia de Lange/Brachmann-de Lange | 122470 | NIPBL | 5p13.2 |
| Cowden/PTEN hamartoma tumor | 158350 | PTEN | 10q23.31 |
| Craniofrontonasal, X-linked | 304110 | EFNB1 | Xq13.1 |
| Cri-du-chat | 123450 | Multiple TERT candidate CTNND2 candidate |
5p15.2-p15.33 |
| Currarino | 176450 | MNX1 | 7q36.3 |
| (Back to top) | |||
| D | |||
| Dandy-Walker malformation (DWM) | 220200 | Multiple ZIC1 candidate ZIC4 candidate |
3q23-q25.1 |
| Deafness 22, autosomal recessive | 607039 | OTOA | 16p12.2 |
| Diamond-Blackfan anemia 1 | 105650 | RPS19 | 19q13.2 |
| DiGeorge/Velocardiofacial
(VCF)/ 22q11.21 Microdeletion |
188400/ 192430 |
TBX1 | 22q11.21 |
| DiGeorge 2 | 601362 | Multiple | 10p14 |
| Dopa-responsive
dystonia (DRD)/ Segawa |
128230 | GCH1 | 14q22.2-q22.3 |
| Dosage-sensitive sex reversal, X-linked * | 300018 | NR0B1 | Xp21.2 |
| (Back to top) | |||
| E | |||
| Early-onset ataxia with oculomotor apraxia & hypoalbuminemia, autosomal recessive | 208920 | APTX | 9p13.3 |
| Emery-Dreifuss
muscular dystrophy, X-linked (EDMD) |
181350 | EMD | Xq28 |
| EPHA7
haploinsufficiency/ 6q16.1 Microdeletion |
EPHA7 | 6q16.1 | |
| Epilepsy & intellectual disability restricted to females,
X-linked/ Juberg-Hellman, X-linked/ Dravet-like, X-linked |
300088 | PCDH19 | Xq22.1 |
| (Back to top) | |||
| F | |||
| Faciogenital dysplasia, X-linked/Aarskog-Scott, X-linked | 305400 | FGD1 | Xp11.22 |
| Familial adenomatous polyposis with intellectual disabilities
(FAP-ID)/ 5q22 Microdeletion |
175100 | APC | 5q22.2 |
| Feingold | 164280 | MYCN | 2p24.3 |
| FMR1 microdeletion, X-linked | 300624 | FMR1 | Xq27.3 |
| Focal dermal hypoplasia, X-linked/ Goltz, X-linked |
305600 | PORCN | Xp11.23 |
| (Back to top) | |||
| G | |||
| GLUT1 deficiency | 606777 | SLC2A1 | 1p34.2 |
| Glycerol kinase deficiency, X-linked (GKD) | 300474 | GK | Xp21.2 |
| Greig cephalopolysyndactyly | 175700 | GLI3 | 7p14.1 |
| Growth hormone insensitivity, autosomal recessive/ Laron, autosomal recessive |
262500 | GHR | 5p12 |
| (Back to top) | |||
| H | |||
| Hemophilia A, X-linked | 306700 | F8 | Xq28 |
| Hemophilia B, X-linked | 306900 | F9 | Xq27.1 |
| Hereditary hemorrhagic telangiectasia, type 2 |
600376 | ACVRL1 | 12q13.13 |
| Hereditary paraganglioma-pheochromocytoma, SDHB-related | 115310 | SDHB | 1p36.13 |
| Hereditary paraganglioma-pheochromocytoma, SDHD-related | 168000 | SDHD | 11q23.1 |
| Heterotaxy, X-linked | 306955 | ZIC3 | Xq26.3 |
| Hirschsprung, RET-related | 142623 | RET | 10q11.21 |
| Holoprosencephaly 1 | 236100 | Multiple TRAPPC10 candidate PWP2 candidate |
21q22.3 |
| Holoprosencephaly 2 | 157170 | SIX3 | 2p21 |
| Holoprosencephaly 3 | 142945 | SHH | 7q36.3 |
| Holoprosencephaly 4 | 142946 | TGIF1 | 18p11.31 |
| Holoprosencephaly 5 | 609637 | ZIC2 | 13q32.3 |
| Holoprosencephaly 8 | 609408 | Multiple | 14q13.1-q13.2 |
| Holt-Oram * | 142900 | TBX5 | 12q24.21 |
| Hydrocephalus and nephrogenic diabetes insipidus, X-linked | L1CAM AVPR2 |
Xq28 | |
| Hyper-IgE recurrent infection, autosomal recessive |
243700 | DOCK8 | 9p24.3 |
| Hypohidrotic ectodermal dysplasia, X-linked (XHED) |
305100 | EDA | Xq13.1 |
| Hypoparathyroidism, sensorineural deafness, renal disease (HDR) | 146255 | GATA3 | 10p14 |
| Hypospadius 2, X-linked | 300758 | MAMLD1 | Xq28 |
| Hypotonia-cystinuria, autosomal recessive | 606407 | SLC3A1 PREPL |
2p21 |
| (Back to top) | |||
| I | |||
| Idiopathic short stature, X- & Y-linked (ISSX) | 300582 | SHOX | Xp22.33 & Yp11.32 |
| Infantile hyperinsulinism with enteropathy & deafness, autosomal recessive | 606528 | USH1C ABCC8 |
11p15.1 |
| Infantile
spasms, CDKL5-related, X-linked/ Atypical Rett, CDKL5-related, X-linked |
300672 | CDKL5 | Xp22.13 |
| Infantile spasms, MAGI2-related | MAGI2 | 7q21.11 | |
| Intellectual disability with cerebellar hypoplasia &
distinctive facial appearance, X-linked/ Mental retardation 60, X-linked * |
300486 | OPHN1 | Xq12 |
| Intellectual disability with isolated growth hormone deficiency, X-linked* | 300123 | SOX3 | Xq27.1 |
| Intellectual disability with language impairment and autistic features | 613670 | FOXP1 | 3p14.1 |
| Intellectual disability with microcephaly & disproportionate pontine and cerebellar hypoplasia, X-linked | 300749 | CASK | Xp11.4 |
| Intellectual
disability with stereotypical movements, epilepsy, and/or cerebral
malformations/ 5q14.3 Microdeletion |
613443 | MEF2C | 5q14.3 |
| (Back to top) | |||
| J | |||
| Jacobsen/11q terminal deletion | 147791 | Multiple | 11q23-q25 |
| Joubert 4, autosomal recessive | 609583 | NPHP1 | 2q13 |
| Juvenile polyposis (JPS), BMPR1A-related | 174900 | BMPR1A | 10q23.2 |
| Juvenile polyposis (JPS), SMAD4-related | 174900 | SMAD4 | 18q21.2 |
| (Back to top) | |||
| K | |||
| Kallmann 1, X-linked | 308700 | KAL1 | Xp22.31 |
| (Back to top) | |||
| L | |||
| Langer-Giedion/Trichorhinophalangeal
type II |
150230 | TRPS1 EXT1 |
8q23.3 8q24.11 |
| Langer mesomelic dysplasia, X- & Y-linked (LMD) | 249700 | SHOX | Xp22.33 & Yp11.32 |
| Leri-Weill dyschondrosteosis, X- & Y-linked (LWD) | 127300 | SHOX | Xp22.33 & Yp11.32 |
| Lesch-Nyhan, X-linked (LNS) | 300322 | HPRT1 | Xq26.2 |
| Li-Fraumeni 1 (LFS) | 151623 | TP53 | 17p13.1 |
| Lissencephaly, X-linked | 300067 | DCX | Xq22.3 |
| Lissencephaly 1 | 607432 | PAFAH1B1 (LIS1) | 17p13.3 |
| Lowe, X-linked | 309000 | OCRL | Xq25 |
| Lymphoproliferative, X-linked (XLP) | 308240 | SH2D1A | Xq25 |
| (Back to top) | |||
| M | |||
| Marfan 1 (MFS1) | 154700 | FBN1 | 15q21.1 |
| McLeod neuroacanthocytosis, X-linked | 314850 | XK | Xp21.1 |
| Menkes, X-linked (MNK) | 309400 | ATP7A | Xq21.1 |
| Mental retardation 1, autosomal dominant (MRD1) | 156200 | MBD5 | 2q23.1 |
| Mental retardation 5, autosomal dominant | 612621 | SYNGAP1 | 6p21.32 |
| Mental retardation 6, autosomal recessive | 611092 | GRIK2 | 6q16.3 |
| Mental retardation 7, autosomal recessive | 611093 | TUSC3 | 8p22 |
| Mental retardation 9, X-linked/ Mental retardation 44, X-linked |
309549 | FTSJ1 | Xp11.23 |
| Mental
retardation 21, X-linked/ Mental retardation 34, X-linked |
300143 | IL1RAPL1 | Xp21.3 |
| Mental retardation 94, X-linked * | 300699 | GRIA3 | Xq25 |
| Mesomelic dysplasia Kantaputra type * | 156232 | HOXD gene cluster candidate | 2q31.1 |
| Metachromatic leukodystrophy, autosomal recessive
(MLD)/ Arylsulfatase A deficiency |
250100 | ARSA | 22q13.3 |
| Microphthalmia 3 | 206900 | SOX2 | 3q26.33 |
| Microphthalmia
7 with linear skin defects, X-linked |
309801 | HCCS | Xp22.2 |
| Miller-Dieker | 247200 | PAFAH1B1 (LIS1) | 17p13.3 |
| Mohr-Tranebjaerg, X-linked/ Deafness-dystonia-optic neuropathy, X-linked (DDON) |
304700 | TIMM8A | Xq22.1 |
| Mowat-Wilson * | 235730 | ZEB2 | 2q22.3 |
| Myoclonus dystonia | 159900 | SGCE | 7q21.3 |
| Myotubular myopathy 1, X-linked | 310400 | MTM1 | Xq28 |
| (Back to top) | |||
| N | |||
| Nablus mask-like facial | 608156 | Multiple | 8q22.1 |
| Nail-patella (NPS) | 161200 | LMX1B | 9q33.3 |
| Nephronophthisis 1, autosomal recessive | 256100 | NPHP1 | 2q13 |
| Nephropathic cystinosis, autosomal recessive | 219800 | CTNS | 17p13.3 |
| Neurofibromatosis 1 with intellectual disabilities (NF1-ID)* | 162200 | NF1 | 17q11.2 |
| Neurofibromatosis 2 (NF2) | 101000 | NF2 | 22q12.2 |
| Neurosensory deafness, autosomal recessive (DFNB1) | 220290 | GJB6 | 13q12.11 |
| NFIA
haploinsufficiency/ 1p31.3 Microdeletion |
613735 | NFIA | 1p31.3 |
| Norrie, X-linked * | 310600 | NDP | Xp11.3 |
| (Back to top) | |||
| O | |||
| Oculocutaneous
albinism 2, autosomal recessive (OCA2) * |
203200 | OCA2 | 15q13.1 |
| Oculofaciocardiodental, X-linked/ Microphthalmia 2, X-Linked |
300166 | BCOR | Xp11.4 |
| Okihiro/ Duane radial ray (DRRS) |
607323 | SALL4 | 20q13.2 |
| Opitz GBBB, X-linked | 300000 | MID1 | Xp22.2 |
| Ornithine
transcarbamylase deficiency, X-linked (OTC) |
311250 | OTC | Xp11.4 |
| Osteopathia
striata with cranial sclerosis, X-linked |
300373 | FAM123B | Xq11.1 |
| Oto-dental | 166750 | FGF3 | 11q13.3 |
| (Back to top) | |||
| P | |||
| Pallister-Killian * | 601803 | Multiple | 12p |
| Pelizaeus-Merzbacher, X-linked * | 312080 | PLP1 | Xq22.2 |
| Peutz-Jeghers (PJS) | 175200 | STK11 | 19p13.3 |
| Pitt-Hopkins | 610954 | TCF4 | 18q21.1 |
| Pitt-Hopkins-like
1, autosomal recessive/ Cortical dysplasia-focal epilepsy, autosomal recessive (CDFE) |
610042 | CNTNAP2 | 7q35-q36.1 |
| Polycystic kidney disease 1 (PKD1) | 173900 | PKD1 | 16p13.3 |
| Potocki-Lupski/ 17p11.2 Microduplication * |
610883 | Multiple RAI1 candidate |
17p11.2 |
| Potocki-Shaffer | 601224 | EXT2 ALX4 |
11p11.2 |
| Prader-Willi (PWS) | 176270 | SNORD116 cluster candidate | 15q11.2 |
| Prader-Willi-like phenotype | 176270 | Multiple SIM1 candidate |
6q16.1-q16.3 |
| (Back to top) | |||
| R | |||
| Renal cysts and diabetes (RCAD) | 137920 | HNF1B | 17q12 |
| Retinoblastoma with intellectual disability | 180200 | RB1 | 13q14.2 |
| Rett, congenital variant | 613454 | FOXG1 | 14q12 |
| Rieger 1 (RIEG1)/ Axenfeld-Rieger |
180500 | PITX2 | 4q25 |
| Rubinstein-Taybi (RTS) | 180849 | CREBBP | 16p13.3 |
| (Back to top) | |||
| S | |||
| Saethre-Chotzen | 101400 | TWIST1 | 7p21.1 |
| Severe
myoclonic epilepsy of infancy (SMEI)/ Dravet |
607208 | SCN1A | 2q24.3 |
| Sex reversal, autosomal dominant 2 (SRA2) | 154230 | Multiple DMRT1 candidate |
9p24.3 |
| Short
stature, pituitary and cerebellar defects, small sella turcica/ Pituitary hormone deficiency, combined, 4 |
262700 | LHX4 | 1q25.2 |
| Siderius type intellectual disability, X-linked | 300263 | PHF8 | Xp11.22 |
| Simpson-Golabi-Behmel, X-linked (SGBS) | 312870 | GPC3 | Xq26.2 |
| Smith-Magenis (SMS) | 182290 | RAI1 | 17p11.2 |
| Sotos | 117550 | NSD1 | 5q35.3 |
| Speech & language disorder 1 | 602081 | FOXP2 | 7q31.1 |
| Split-hand/foot
malformation 1 (SHFM1)/ Ectrodactyly |
183600 | SHFM1 | 7q21.3 |
| Split-hand/foot
malformation 3 (SHFM3)/ Ectrodactyly * |
246560 | FBXW4 | 10q24.32 |
| Split-hand/foot
malformation 5 (SHFM5)/ Ectrodactyly |
606708 | EVX2
candidate HOXD gene cluster candidate |
2q31.1 |
| Steroid
sulfatase deficiency, X-linked/ Ichthyosis, X-linked |
308100 | STS | Xp22.31 |
| Synpolydactyly/ Syndactyly II |
186000 | HOXD gene cluster | 2q31.1 |
| (Back to top) | |||
| T | |||
| Toe syndactyly, telecanthus, anogenital & renal malformations, X-linked (STAR) | 300707 | FAM58A | Xq28 |
| Townes-Brocks 1 | 107480 | SALL1 | 16q12.1 |
| Trichorhinophalangeal 1 | 190350 | TRPS1 | 8q23.3 |
| Tuberous sclerosis 1 (TSC1) | 191100 | TSC1 | 9q34.13 |
| Tuberous sclerosis 2 (TSC2) | 613254 | TSC2 | 16p13.3 |
| (Back to top) | |||
| U | |||
| Ulnar-mammary | 181450 | TBX3 | 12q24.21 |
| Usher IIC, autosomal recessive | 605472 | GPR98 | 5q14.3 |
| (Back to top) | |||
| V | |||
| Van der Woude | 119300 | IRF6 | 1q32.2 |
| von Hippel-Lindau | 193300 | VHL | 3p25.3 |
| (Back to top) | |||
| W | |||
| Waardenburg I | 193500 | PAX3 | 2q36.1 |
| Waardenburg IIA | 193510 | MITF | 3p14.1 |
| Walker-Warburg,
LARGE-related, autosomal recessive/ Muscular dystrophy-dystroglycanopathy A1, autosomal recessive |
236670 | LARGE | 22q12.3 |
| Williams-Beuren (WBS) | 194050 | ELN | 7q11.23 |
| Wilms Tumor 1 (WT1) | 194070 | WT1 | 11p13 |
| Wilms tumor-aniridia-genital anomalies-retardation (WAGR) | 194072 | PAX6 WT1 |
11p13 |
| Wolf-Hirschhorn | 194190 | Multiple | 4p16.3 |
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| X | |||
| XX
male/ SRY dosage abnormalities |
400045 | SRY | Yp11.31 |
| XY
gonadal dysgenesis/ SRY dosage abnormalities |
400044 | SRY | Yp11.31 |
| XY
sex-reversal, +/- adrenal failure/ 46, XY sex reversal 3/ Adrenocortical insufficiency |
612965 | NR5A1 | 9q33.3 |
| All 43 unique pericentromeric regions | Multiple | 43 sites | |
| All 41 unique subtelomeric regions | Multiple | 41 sites | |
| Aneuploidy for 24 chromosomes | Multiple | 24 chromosomes | |
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