List of diseases covered by
Kallmann Syndrome NGS panel

Gene Condition
ANOS1 Hypogonadotropic hypogonadism 1 with or
without anosmia (Kallmann syndrome 1)
FEZF1 Hypogonadotropic hypogonadism 22, with or without anosmia
FGF17 Hypogonadotropic hypogonadism 20 with or without anosmia
FGF8 Hypogonadotropic hypogonadism 6 with or without anosmia
FGFR1 Pfeiffer syndrome; Encephalocraniocutaneous lipomatosis;
Hartsfield syndrome; Hypogonadotropic hypogonadism 2
with or without anosmia; Jackson-Weiss syndrome;
Osteoglophonic dysplasia; Trigonocephaly 1
FLRT3 Hypogonadotropic hypogonadism 21 with anosmia
FSHB Hypogonadotropic hypogonadism 24 without anosmia
GNRH1 Hypogonadotropic hypogonadism 12 with or without anosmia
GNRHR Hypogonadotropic hypogonadism 7 without anosmia
HESX1 Growth hormone deficiency with pituitary anomalies
HS6ST1 Hypogonadotropic hypogonadism 15 with or without anosmia
IL17RD Hypogonadotropic hypogonadism 18 with or without anosmia
KISS1 Hypogonadotropic hypogonadism 13 with or without anosmia
KISS1R Hypogonadotropic hypogonadism 8 with or without anosmia
LHB Hypogonadotropic hypogonadism 23 with or without anosmia
NSMF Hypogonadotropic hypogonadism 9 with or without anosmia
POLR3B Leukodystrophy, hypomyelinating, 8,
with or without oligodontia and/or hypogonadotropic hypogonadism
PROK2 Hypogonadotropic hypogonadism 4 with or without anosmia
PROKR2 Hypogonadotropic hypogonadism 3 with or without anosmia
SEMA3A Hypogonadotropic hypogonadism 16 with or without anosmia
SOX10 PCWH syndrome,
Waardenburg syndrome, type 2E, with or without neurologic involvement,
Waardenburg syndrome, type 4C
SPRY4 Hypogonadotropic hypogonadism 17 with or without anosmia
TAC3 Hypogonadotropic hypogonadism 10 with or without anosmia
TACR3 Hypogonadotropic hypogonadism 11 with or without anosmia
WDR11 Hypogonadotropic hypogonadism 14 with or without anosmia