Dentro de los servicios qGenEx, los paneles de exoma dirigido permiten restringir el estudio a un grupo de genes concreto según especialidad.
qGenEx HH, analiza 31 genes asociados a hipogonadismo hipogonadotrófico 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 | |
---|---|---|---|---|---|
CHD7 | 161 | 0.99 | 0.98 | CHARGE syndrome, | 214800 |
CHD7 | 161 | 0.99 | 0.98 | Hypogonadotropic hypogonadism 5 with or without anosmia, | 612370 |
DUSP6 | 173.3 | 1 | 0.99 | Hypogonadotropic hypogonadism 19 with or without anosmia, | 615269 |
FEZF1 | 171.3 | 0.99 | 0.99 | Hypogonadotropic hypogonadism 22 with or without anosmia, | 616030 |
FGF17 | 155.4 | 0.99 | 0.99 | Hypogonadotropic hypogonadism 20 with or without anosmia, | 615270 |
FGF8 | 127.4 | 0.85 | 0.79 | Hypogonadotropic hypogonadism 6 with or without anosmia, | 612702 |
FGFR1 | 161.5 | 0.99 | 0.97 | Encephalocraniocutaneous lipomatosis, | 613001 |
FGFR1 | 161.5 | 0.99 | 0.97 | Hartsfield syndrome, | 615465 |
FGFR1 | 161.5 | 0.99 | 0.97 | Hypogonadotropic hypogonadism 2 with or without anosmia, | 147950 |
FGFR1 | 161.5 | 0.99 | 0.97 | Jackson-Weiss syndrome, | 123150 |
FGFR1 | 161.5 | 0.99 | 0.97 | Osteoglophonic dysplasia, | 166250 |
FGFR1 | 161.5 | 0.99 | 0.97 | Pfeiffer syndrome, | 101600 |
FGFR1 | 161.5 | 0.99 | 0.97 | Trigonocephaly 1 | 190440 |
FLRT3 | 259.8 | 1 | 1 | Hypogonadotropic hypogonadism 21 with anosmia, | 615271 |
FSHB | 150 | 1 | 1 | Hypogonadotropic hypogonadism 24 without anosmia, | 229070 |
GNRH1 | 102.6 | 0.99 | 0.92 | ?Hypogonadotropic hypogonadism 12 with or without anosmia, | 614841 |
GNRHR | 210.9 | 1 | 1 | Hypogonadotropic hypogonadism 7 without anosmia, | 146110 |
HESX1 | 78.1 | 0.96 | 0.87 | Growth hormone deficiency with pituitary anomalies, | 182230 |
HESX1 | 78.1 | 0.96 | 0.87 | Pituitary hormone deficiency, combined, 5 | 182230 |
HESX1 | 78.1 | 0.96 | 0.87 | Septooptic dysplasia, | 182230 |
HS6ST1 | 68.9 | 0.93 | 0.84 | {Hypogonadotropic hypogonadism 15 with or without anosmia}, | 614880 |
IL17RD | 144.8 | 0.99 | 0.97 | Hypogonadotropic hypogonadism 18 with or without anosmia, | 615267 |
KAL1 | 106.4 | 0.89 | 0.87 | Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1), | 308700 |
KISS1 | 47.2 | 0.98 | 0.94 | ?Hypogonadotropic hypogonadism 13 with or without anosmia, | 614842 |
KISS1R | 93.7 | 0.99 | 0.97 | Hypogonadotropic hypogonadism 8 with or without anosmia, | 614837 |
KISS1R | 93.7 | 0.99 | 0.97 | ?Precocious puberty, central, 1 | 176400 |
LEP | 214 | 1 | 0.98 | Obesity, morbid, due to leptin deficiency, | 614962 |
LEPR | 125.5 | 0.93 | 0.89 | Obesity, morbid, due to leptin receptor deficiency, | 614963 |
LHB | 28.3 | 0.94 | 0.68 | Hypogonadotropic hypogonadism 23 with or without anosmia, | 228300 |
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 |
NSMF | 113 | 0.96 | 0.95 | Hypogonadotropic hypogonadism 9 with or without anosmia, | 614838 |
PCSK1 | 166.9 | 0.99 | 0.99 | Obesity with impaired prohormone processing, | 600955 |
PCSK1 | 166.9 | 0.99 | 0.99 | {Obesity, susceptibility to, BMIQ12}, | 612362 |
PROK2 | 106.7 | 0.97 | 0.91 | Hypogonadotropic hypogonadism 4 with or without anosmia, | 610628 |
PROKR2 | 373.6 | 1 | 1 | Hypogonadotropic hypogonadism 3 with or without anosmia, | 244200 |
PROP1 | 98.3 | 0.97 | 0.91 | Pituitary hormone deficiency, combined, 2 | 262600 |
SEMA3A | 214.9 | 1 | 0.99 | {Hypogonadotropic hypogonadism 16 with or without anosmia}, | 614897 |
SOX10 | 80.4 | 0.97 | 0.93 | PCWH syndrome, | 609136 |
SOX10 | 80.4 | 0.97 | 0.93 | Waardenburg syndrome, type 2E, with or without neurologic involvement, | 611584 |
SOX10 | 80.4 | 0.97 | 0.93 | Waardenburg syndrome, type 4C, | 613266 |
SPRY4 | 153 | 0.99 | 0.99 | Hypogonadotropic hypogonadism 17 with or without anosmia, | 615266 |
TAC3 | 88.5 | 0.96 | 0.88 | Hypogonadotropic hypogonadism 10 with or without anosmia, | 614839 |
TACR3 | 179.2 | 1 | 0.99 | Hypogonadotropic hypogonadism 11 with or without anosmia, | 614840 |
WDR11 | 148.7 | 0.97 | 0.96 | Hypogonadotropic hypogonadism 14 with or without anosmia, | 614858 |