Dentro de los servicios qGenEx, los paneles de exoma dirigido permiten restringir el estudio a un grupo de genes concreto según especialidad.
qGenEx TDS analiza 48 genes asociados a trastornos del desarrollo sexual usando secuenciación de exoma completo mediante NGS.
Utiliza el buscador para encontrar el grupo de genes relacionados con la patología que te interesa incluidos en el panel:
Gene | Median coverage | % covered > 10x | % covered > 20x | Associated Phenotype description and OMIM disease ID | |
---|---|---|---|---|---|
AKR1C2 | 192.8 | 0.96 | 0.91 | 46XY sex reversal 8 | 614279 |
AKR1C2 | 192.8 | 0.96 | 0.91 | Obesity, hyperphagia, and developmental delay | 614279 |
AMH | 41.6 | 0.94 | 0.78 | Persistent Mullerian duct syndrome, type I, | 261550 |
AMHR2 | 158.5 | 0.99 | 0.98 | Persistent Mullerian duct syndrome, type II, | 261550 |
AR | 97.8 | 0.95 | 0.89 | Androgen insensitivity, | 300068 |
AR | 97.8 | 0.95 | 0.89 | Androgen insensitivity, partial, with or without breast cancer, | 312300 |
AR | 97.8 | 0.95 | 0.89 | Hypospadias 1 X-linked, | 300633 |
AR | 97.8 | 0.95 | 0.89 | Spinal and bulbar muscular atrophy of Kennedy, | 313200 |
AR | 97.8 | 0.95 | 0.89 | {Prostate cancer, susceptibility to}, | 176807 |
ARX | 39.1 | 0.82 | 0.7 | Epileptic encephalopathy, early infantile, 1 | 308350 |
ARX | 39.1 | 0.82 | 0.7 | Hydranencephaly with abnormal genitalia, | 300215 |
ARX | 39.1 | 0.82 | 0.7 | Lissencephaly, X-linked 2 | 300215 |
ARX | 39.1 | 0.82 | 0.7 | Mental retardation, X-linked 29 and others, | 300419 |
ARX | 39.1 | 0.82 | 0.7 | Partington syndrome, | 309510 |
ARX | 39.1 | 0.82 | 0.7 | Proud syndrome, | 300004 |
ATRX | 94.5 | 0.97 | 0.93 | Alpha-thalassemia myelodysplasia syndrome, somatic, | 300448 |
ATRX | 94.5 | 0.97 | 0.93 | Alpha-thalassemia/mental retardation syndrome, | 301040 |
ATRX | 94.5 | 0.97 | 0.93 | Mental retardation-hypotonic facies syndrome, X-linked, | 309580 |
B9D1 | 119.3 | 0.92 | 0.91 | ?Meckel syndrome 9 | 614209 |
CBX2 | 96.6 | 0.99 | 0.97 | ?46XY sex reversal 5 | 613080 |
CEP41 | 96.7 | 0.97 | 0.9 | Joubert syndrome 15 | 614464 |
CYB5A | 139.8 | 1 | 1 | Methemoglobinemia, type IV, | 250790 |
CYP11A1 | 141.1 | 0.99 | 0.97 | Adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete, | 613743 |
CYP11B1 | 182.2 | 0.99 | 0.99 | Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency, | 202010 |
CYP11B1 | 182.2 | 0.99 | 0.99 | Aldosteronism, glucocorticoid-remediable, | 103900 |
CYP17A1 | 146.2 | 1 | 0.99 | 17,20-lyase deficiency, isolated, | 202110 |
CYP17A1 | 146.2 | 1 | 0.99 | 17-alpha-hydroxylase/17,20-lyase deficiency, | 202110 |
CYP19A1 | 206.6 | 1 | 1 | Aromatase deficiency, | 613546 |
CYP19A1 | 206.6 | 1 | 1 | Aromatase excess syndrome, | 139300 |
DHCR7 | 176.8 | 1 | 1 | Smith-Lemli-Opitz syndrome, | 270400 |
DHH | 117.9 | 0.99 | 0.99 | 46XY partial gonadal dysgenesis, with minifascicular neuropathy, | 607080 |
DHH | 117.9 | 0.99 | 0.99 | 46XY sex reversal 7 | 233420 |
DMRT1 | 104.3 | 0.98 | 0.95 | No OMIM phenotype | 233420 |
DMRT1 | 104.3 | 0.98 | 0.95 | XY gonadal dysgenesis (Ledig -2010 Hum Reprod 25,2637) | 233420 |
DMRT1 | 104.3 | 0.98 | 0.95 | Azoospermia (Lopes -2013 PLoS Genet 9,e | 1003349) |
DMRT1 | 104.3 | 0.98 | 0.95 | ?Male infertility (Tewes -2014 Fertil Steril 102 816) | 1003349) |
DMRT1 | 104.3 | 0.98 | 0.95 | ?XY sex reversal (Raymond -1999 Hum Mol Genet 8 989) | 1003349) |
DYNC2H1 | 102.9 | 0.95 | 0.86 | Short-rib thoracic dysplasia 3 with or without polydactyly, | 613091 |
FRAS1 | 165 | 1 | 0.99 | Fraser syndrome, | 219000 |
FREM2 | 199.1 | 0.99 | 0.99 | Fraser syndrome, | 219000 |
GATA4 | 89.1 | 0.71 | 0.62 | Atrial septal defect 2 | 607941 |
GATA4 | 89.1 | 0.71 | 0.62 | Atrioventricular septal defect 4 | 614430 |
GATA4 | 89.1 | 0.71 | 0.62 | Tetralogy of Fallot, | 187500 |
GATA4 | 89.1 | 0.71 | 0.62 | Ventricular septal defect 1 | 614429 |
GATA4 | 89.1 | 0.71 | 0.62 | ?Testicular anomalies with or without congenital heart disease, | 615542 |
GRIP1 | 152.3 | 0.99 | 0.99 | Fraser syndrome, | 219000 |
HOXA13 | 52 | 0.72 | 0.65 | Guttmacher syndrome, | 176305 |
HOXA13 | 52 | 0.72 | 0.65 | Hand-foot-uterus syndrome, | 140000 |
HSD17B3 | 172 | 1 | 1 | Pseudohermaphroditism, male, with gynecomastia, | 264300 |
HSD3B2 | 178.2 | 1 | 1 | 3-beta-hydroxysteroid dehydrogenase, type II, deficiency, | 201810 |
LHCGR | 169.9 | 0.97 | 0.93 | Leydig cell adenoma, somatic, with precocious puberty, | 176410 |
LHCGR | 169.9 | 0.97 | 0.93 | Leydig cell hypoplasia with hypergonadotropic hypogonadism, | 238320 |
LHCGR | 169.9 | 0.97 | 0.93 | Leydig cell hypoplasia with pseudohermaphroditism, | 238320 |
LHCGR | 169.9 | 0.97 | 0.93 | Luteinizing hormone resistance, female, | 238320 |
LHCGR | 169.9 | 0.97 | 0.93 | Precocious puberty, male, | 176410 |
MAMLD1 | 139.3 | 0.99 | 0.98 | Hypospadias 2 X-linked, | 300758 |
MAP3K1 | 182.3 | 0.94 | 0.9 | 46XY sex reversal 6 | 613762 |
MKKS | 239.6 | 0.89 | 0.89 | Bardet-Biedl syndrome 6 | 605231 |
MKKS | 239.6 | 0.89 | 0.89 | McKusick-Kaufman syndrome, | 236700 |
NEK1 | 124 | 0.97 | 0.93 | Short-rib thoracic dysplasia 6 with or without polydactyly, | 263520 |
NR0B1 | 130.1 | 0.99 | 0.97 | 46XY sex reversal 2 dosage-sensitive, | 300018 |
NR0B1 | 130.1 | 0.99 | 0.97 | Adrenal hypoplasia, congenital, with hypogonadotropic hypogonadism, | 300200 |
NR3C1 | 159 | 1 | 0.99 | Glucocorticoid resistance, | 615962 |
NR5A1 | 95.6 | 0.99 | 0.98 | 46XY sex reversal 3 | 612965 |
NR5A1 | 95.6 | 0.99 | 0.98 | Adrenocortical insufficiency | 612965 |
NR5A1 | 95.6 | 0.99 | 0.98 | Premature ovarian failure 7 | 612964 |
NR5A1 | 95.6 | 0.99 | 0.98 | Spermatogenic failure 8 | 613957 |
POR | 168.3 | 1 | 0.99 | Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis, | 201750 |
POR | 168.3 | 1 | 0.99 | Disordered steroidogenesis due to cytochrome P450 oxidoreductase, | 613571 |
RIPK4 | 157.6 | 0.99 | 0.99 | Popliteal pterygium syndrome, Bartsocas-Papas type, | 263650 |
ROR2 | 192.6 | 0.99 | 0.98 | Brachydactyly, type B1, | 113000 |
ROR2 | 192.6 | 0.99 | 0.98 | Robinow syndrome, autosomal recessive, | 268310 |
RSPO1 | 123.9 | 1 | 0.99 | Palmoplantar hyperkeratosis and true hermaphroditism, | 610644 |
RSPO1 | 123.9 | 1 | 0.99 | Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and sex reversal, | 610644 |
SOX3 | 45.5 | 0.94 | 0.8 | Mental retardation, X-linked, with isolated growth hormone deficiency, | 300123 |
SOX3 | 45.5 | 0.94 | 0.8 | Panhypopituitarism, X-linked, | 312000 |
SOX9 | 120.7 | 0.96 | 0.91 | Acampomelic campomelic dysplasia, | 114290 |
SOX9 | 120.7 | 0.96 | 0.91 | Campomelic dysplasia with autosomal sex reversal, | 114290 |
SOX9 | 120.7 | 0.96 | 0.91 | Campomelic dysplasia, | 114290 |
SRD5A2 | 91.8 | 1 | 0.97 | Pseudovaginal perineoscrotal hypospadias, | 264600 |
SRY | 44.5 | 0.4 | 0.4 | 46XX sex reversal 1 | 400045 |
SRY | 44.5 | 0.4 | 0.4 | 46XY sex reversal 1 | 400046 |
STAR | 134.5 | 0.99 | 0.99 | Lipoid adrenal hyperplasia, | 201710 |
TCTN3 | 135.8 | 0.99 | 0.99 | Joubert syndrome 18 | 614815 |
TCTN3 | 135.8 | 0.99 | 0.99 | Orofaciodigital syndrome IV, | 258860 |
TSPYL1 | 145.8 | 1 | 0.99 | Sudden infant death with dysgenesis of the testes syndrome, | 608800 |
WDR60 | 120.8 | 0.98 | 0.95 | Short-rib thoracic dysplasia 8 with or without polydactyly, | 615503 |
WNT4 | 274.7 | 0.93 | 0.92 | Mullerian aplasia and hyperandrogenism, | 158330 |
WNT4 | 274.7 | 0.93 | 0.92 | SERKAL syndrome, | 611812 |
WT1 | 100 | 0.95 | 0.89 | Denys-Drash syndrome, | 194080 |
WT1 | 100 | 0.95 | 0.89 | Frasier syndrome, | 136680 |
WT1 | 100 | 0.95 | 0.89 | Meacham syndrome, | 608978 |
WT1 | 100 | 0.95 | 0.89 | Mesothelioma, somatic, | 156240 |
WT1 | 100 | 0.95 | 0.89 | Nephrotic syndrome, type 4 | 256370 |
WT1 | 100 | 0.95 | 0.89 | Wilms tumor, type 1 | 194070 |
ZFPM2 | 221.7 | 0.99 | 0.99 | 46XY sex reversal 9 | 616067 |
ZFPM2 | 221.7 | 0.99 | 0.99 | Diaphragmatic hernia 3 | 610187 |
ZFPM2 | 221.7 | 0.99 | 0.99 | Tetralogy of Fallot, | 187500 |