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IllnessGonadotropin-Releasing Hormone (GnRH) Deficiency, isolated; differential diagnosis

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Summary

Short information

Comprehensive differential diagnostic panel for Isolated Gonadotropin-Releasing Hormone [GnRH] Deficiency comprising 8 or altogether 28 curated genes according to the clinical signs

ID
IP1772
Number of genes
28 Accredited laboratory test
Examined sequence length
20,7 kb (Core-/Core-canditate-Genes)
52,4 kb (Extended panel: incl. additional genes)
Analysis Duration
auf Anfrage
Material
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications

NGS +

 

Gene panel

Selected genes

NameExon Length (bp)OMIM-GReferenz-Seq.Heredity
ANOS12043NM_000216.4XLR
CHD78994NM_017780.4AD
FGFR12469NM_023110.3n.k.
GNRHR987NM_000406.3AR
IL17RD2220NM_017563.5AR
PROKR21155NM_144773.4AD
SOX101401NM_006941.4AD
TACR31398NM_001059.3AR
AXL1881NM_001278599.2AD
CCDC1414895NM_173648.4AD, AR
DUSP61146NM_001946.4AD
FEZF11428NM_001024613.4AR
FGF17651NM_003867.4AD
FGF8735NM_033163.5AD
FLRT31950NM_198391.3AD
GNRH1291NM_000825.3AR
HS6ST11236NM_004807.3AD
KISS1417NM_002256.4AR
KISS1R1197NM_032551.5AR
NSMF1587NM_015537.5AD
POLR3B3402NM_018082.6AR
PROK2390NM_001126128.2n.k.
SEMA3A2316NM_006080.3AD
SEMA3E2328NM_012431.3AD
SPRY4969NM_030964.5AD
SRA1870NM_001035235.4AR
TAC3366NM_013251.4AR
WDR113675NM_018117.12AD

Informations about the disease

Synonyms
  • Alias: Gonadotropic deficiency
  • Alias: Isolated congenital gonadotropin deficiency
  • Alias: Isolated congenital hypogonadotropic hypogonadism
  • Alias: Isolated gonadotropin-releasing hormone deficiency
  • Allelic: Hartsfield syndrome (FGFR1)
  • Allelic: Jackson-Weiss syndrome (FGFR1)
  • Allelic: Osteoglophonic dysplasia (FGFR1)
  • Allelic: Pfeiffer syndrome (FGFR1)
  • Allelic: Precocious puberty, central, 1 (KISS1R)
  • Anosmic hypogonadotropic hypogonadism [panelapp] (CCDC141)
  • CHARGE syndrome (CHD7)
  • CHARGE syndrome (SEMA3E)
  • Congenital hypogonadotropic hypogonadism [MONDO:0015770] (CCDC141))
  • Hypogonadotropic hypogonadism 1 with/-out anosmia [Kallmann syndrome 1] (ANOS1)
  • Hypogonadotropic hypogonadism 10 with/-out anosmia (TAC3)
  • Hypogonadotropic hypogonadism 11 with/-out anosmia (TACR)
  • Hypogonadotropic hypogonadism 12 with/-out anosmia (GNRH1)
  • Hypogonadotropic hypogonadism 13 with/-out anosmia (KISS1)
  • Hypogonadotropic hypogonadism 14 with/-out anosmia (WDR11)
  • Hypogonadotropic hypogonadism 15 with/-out anosmia (HS6ST1)
  • Hypogonadotropic hypogonadism 16 with/-out anosmia (SEMA3A)
  • Hypogonadotropic hypogonadism 17 with/-out anosmia (SPRY4)
  • Hypogonadotropic hypogonadism 18 with/-out anosmia (IL17RD)
  • Hypogonadotropic hypogonadism 19 with/-out anosmia (DUSP6)
  • Hypogonadotropic hypogonadism 2 with/-out anosmia (FGFR1)
  • Hypogonadotropic hypogonadism 20 with/-out anosmia (FGF17)
  • Hypogonadotropic hypogonadism 21 with anosmia (FLRT3)
  • Hypogonadotropic hypogonadism 22, with/-out anosmia (FEZF1)
  • Hypogonadotropic hypogonadism 3 with/-out anosmia (PROKR2)
  • Hypogonadotropic hypogonadism 4 with/-out anosmia (PROK2)
  • Hypogonadotropic hypogonadism 5 with/-out anosmia (CHD7)
  • Hypogonadotropic hypogonadism 6 with/-out anosmia (FGF8)
  • Hypogonadotropic hypogonadism 7 without anosmia (GNRHR)
  • Hypogonadotropic hypogonadism 8 with/-out anosmia (KISS1R)
  • Hypogonadotropic hypogonadism 9 with/-out anosmia (NSMF)
  • Leukodystrophy, hypomyelin., 8, with/-out oligodontia and/or hypogonadotropic hypogonadism (POLR3B)
  • PCWH syndrome (SOX10)
  • Periph. demyel. neuropathy, central dysmyelin., Waardenburg s. + Hirschsprung dis. [PCWH s.] (SOX10)
  • Waardenburg syndrome, type 2E, with/-out neurologic involvement (SOX10)
  • Waardenburg syndrome, type 4C (SOX10)
Heredity, heredity patterns etc.
  • AD
  • AR
  • XLR
  • n.k.
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code

Bioinformatics and clinical interpretation

No text defined