Klinische FragestellungIsolierte Gonadotropin-Releasing Hormone [GnRH} Defizienz; Differentialdiagnose

Zusammenfassung

Kurzinformation

Umfassendes differentialdiagnostisches panel für Isolierte Gonadotropin-Releasing Hormone (GnRH) Defizienz mit 8 bzw. zusammen genommen 28 kuratierten Genen gemäß klinischer Verdachtsdiagnose

IP1772

Anzahl Gene

28 Akkreditierte Untersuchung

Untersuchte Sequenzlänge

20,7 kb (Core-/Core-canditate-Gene)
52,4 kb (Erweitertes Panel: inkl. additional genes)

Analyse-Dauer

auf Anfrage

Material

EDTA-Blut (3-5 ml)

Diagnostische Hinweise

NGS +

Genpanel

Ausgewählte Gene

Name	Exon-Länge (bp)	OMIM-G	Referenz-Seq.	Erbgang
ANOS1	2043	300836	NM_000216.4	XLR
CHD7	8994	608892	NM_017780.4	AD
FGFR1	2469	136350	NM_023110.3	AD
GNRHR	987	138850	NM_000406.3	AR
IL17RD	2220	606807	NM_017563.5	AR
PROKR2	1155	607123	NM_144773.4	AD
SOX10	1401	602229	NM_006941.4	AD
TACR3	1398	162332	NM_001059.3	AR
AXL	1881	109135	NM_001278599.2	AD
CCDC141	4895	616031	NM_173648.4	AD, AR
DUSP6	1146	602748	NM_001946.4	AD
FEZF1	1428	613301	NM_001024613.4	AR
FGF17	651	603725	NM_003867.4	AD
FGF8	735	600483	NM_033163.5	AD
FLRT3	1950	604808	NM_198391.3	AD
GNRH1	291	152760	NM_000825.3	AR
HS6ST1	1236	604846	NM_004807.3	AD
KISS1	417	603286	NM_002256.4	AR
KISS1R	1197	604161	NM_032551.5	AR
NSMF	1587	608137	NM_015537.5	AD
POLR3B	3402	614366	NM_018082.6	AR
PROK2	390	607002	NM_001126128.2	AD
SEMA3A	2316	603961	NM_006080.3	AD
SEMA3E	2328	608166	NM_012431.3	AD
SPRY4	969	607984	NM_030964.5	AD
SRA1	870	603819	NM_001035235.4	AR
TAC3	366	162330	NM_013251.4	AR
WDR11	3675	606417	NM_018117.12	AD

Infos zur Erkrankung

Synonyme

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)

Erbgänge, Vererbungsmuster etc.

OMIM-Ps

Multiple OMIM-Ps

ICD10 Code

E23.0

Bioinformatik und klinische Interpretation

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