Klinische FragestellungWT1-Erkrankung; DD Störungen der Testes-Entwicklung + DSD

Zusammenfassung

Kurzinformation

Umfassendes differentialdiagnostisches panel für WT1-Erkrankung [DD Störungen der Testes-Entwicklung + DSD] mit 1 "core candidate"-Gen sowie zusammen genommen 24 kuratierten Genen gemäß klinischer Verdachtsdiagnose

WP0042

Anzahl Loci

Locus-Typ	Anzahl
Gen	23

Akkreditierte Untersuchung

Untersuchte Sequenzlänge

1,6 kb (Core-/Core-canditate-Gene)
40,9 kb (Erweitertes Panel: inkl. additional genes)

Analyse-Dauer

auf Anfrage

Untersuchungsmaterial

EDTA-Blut (3-5 ml)

Diagnostische Hinweise

NGS +

Loci

Gen

Name	Exon-Länge (bp)	OMIM-G	Referenz-Seq.	Erbgang
WT1	1569	607102	NM_024426.6	AD, SMu
AKR1C2	420	600450	NM_001354.6	AR
AKR1C4	972	600451	NM_001818.5	AR
ANOS1	2043	300836	NM_000216.4	XLR
AR	2763	313700	NM_000044.6	XLR
ATRX	7479	300032	NM_000489.6	XLR
CBX2	1599	602770	NM_005189.3	AR
CYP11A1	1566	118485	NM_000781.3	AR, AD
CYP17A1	1527	609300	NM_000102.4	AR
DHCR7	1428	602858	NM_001360.3	AR
DHH	1191	605423	NM_021044.4	AR
DMRT1	1122	602424	NM_021951.3	AD
GATA4	1329	600576	NM_002052.5	AD
HSD17B3	933	605573	NM_000197.2	AR
HSD3B2	1119	613890	NM_000198.4	AR
LHCGR	2100	152790	NM_000233.4	AD, AR
MAP3K1	4539	600982	NM_005921.2	AD
NR5A1	1386	184757	NM_004959.5	AD, AR
POR	2043	124015	NM_001395413.1	AR
SOX9	1530	608160	NM_000346.4	AD
SRD5A2	764	607306	NM_000348.4	AR
SRY	615	480000	NM_003140.3	YL
STAR	858	600617	NM_000349.3	AR

Infos zur Erkrankung

Synonyme

Wilms tumor, type 1 (WT1)
Denys-Drash syndrome (WT1)
Frasier syndrome (WT1)
Meacham syndrome (WT1)
Mesothelioma, somatic (WT1)
Nephrotic syndrome, type 4 (WT1)
17,20-lyase deficiency, isolated (CYp17A1)
17-alpha-hydroxylase/17,20-lyase deficiency (CYP17A1)
46XX sex reversal 1 (SRY)
46XX sex reversal 4 (NR5A1)
46XY disorder of testicular development [genereviews] (DMRT1)
46XY gonadal dysgenesis with minifascicular neuropathy (DHH)
46XY sex reversal 1 (SRY)
46XY sex reversal 3 (NR5A1)
46XY sex reversal 5 (CBX2)
46XY sex reversal 6 (MAP3K1)
46XY sex reversal 7 (DHH)
46XY sex reversal 8 (AKR1C2)
46XY sex reversal 8, modifier of (AKR1C4)
Adrenal hyperplasia, congenital, due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency (HSD3B2)
Adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete (CYP11A1)
Adrenocortical insufficiency (NR5A1)
Allelic: Acampomelic campomelic dysplasia (SOX9)
Allelic: Alpha-thalassemia/mental retardation syndrome (ATRX)
Allelic: Campomelic dysplasia (SOX9)
Allelic: Tetralogy of Fallot (GATA4)
Androgen insensitivity (AR)
Androgen insensitivity, partial, with/-out breast cancer (AR)
Antley-Bixler syndrome with genital anomalies + disordered steroidogenesis (POR)
Campomelic dysplasia with autosomal sex reversal (SOX9)
Hypogonadotropic hypogonadism 1 with/-out anosmia [Kallmann syndrome 1] (ANOS1)
Hypospadias 1, XL (AR)
Leydig cell adenoma, somatic, with precocious puberty (LHCGR)
Leydig cell hypoplasia with hypergonadotropic hypogonadism (LHCGR)
Leydig cell hypoplasia with pseudohermaphroditism (LHCGR)
Lipoid adrenal hyperplasia (STAR)
Luteinizing hormone resistance, female (LHCGR)
Mental retardation-hypotonic facies syndrome, XL (ATRX)
Partington syndrome (ARX)
Precocious puberty, male (LHCGR)
Proud syndrome (ARX)
Pseudohermaphroditism, male, with gynecomastia (HSD17B3)
Pseudovaginal perineoscrotal hypospadias (SRD5A2)
Smith-Lemli-Opitz syndrome (DHCR7)
Spinal + bulbar muscular atrophy of Kennedy (AR)

Erbgänge, Vererbungsmuster etc.

OMIM-Ps

Multiple OMIM-Ps

ICD10 Code

Bioinformatik und klinische Interpretation

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