Belgian Genetic Tests database- Diseases
- 46,XY complete gonadal dysgenesis
46,XY complete gonadal dysgenesis
| Name: |
46,XY complete gonadal dysgenesis
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| Description: |
A rare disorder/difference of sex development (DSD) associated with absence in gonadal development that results in the presence of female appearing external and internal genitalia in presence of a 46,XY karyotype.
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| ORPHAcode: |
242
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| Synonyms: |
46,XY CGD
46,XY pure gonadal dysgenesis
Swyer syndrome
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| XREF(s): | |
| Analyte(s): | |
| Created: |
13 May 2019 - 01:02
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| Changed: |
22 Jun 2023 - 16:14
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Hypogonadotropic Hypogonadism/Kallmann (61 genes) - ULG
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments LEPR 98.65 0 NM_002303 KISS1 99.66 0 NM_002256 RD3 99.63 0 NM_183059 HS6ST1 92.39 0 NM_004807 CXCR4 99.63 0 NM_003467 CCDC141 97.45 0 NM_173648 NRP2 99.58 0 NM_201266 IL17RD 94.68 0 NM_017563 HESX1 98.36 0 NM_003865 PROK2 90.75 0 NM_001126128 GAP43 97.81 0 NM_001130064 PLXNA1 99.67 0 NM_032242 SOX2 95.94 0 NM_003106 KLB 99.62 0 NM_175737 GNRHR 99.45 0 NM_000406 TACR3 99.41 0 NM_001059 OTUD4 98.02 0 NM_001102653 PCSK1 99.63 0 NM_000439 SOX9 99.60 0 NM_001035235 SPRY4 99.69 0 NM_030964 PROP1 99.69 0 NM_006261 GLI3 99.55 0 NM_000168 SEMA3E 99.45 0 NM_012431 SEMA3A 99.53 0 NM_006080 FEZF1 99.43 0 NM_001024613 LEP 99.69 0 NM_000230 FGF17 99.67 0 NM_003867 GNRH1 99.54 0 NM_000825 FGFR1 99.69 0 NM_023110 CHD7 99.53 0 NM_017780 TRAPPC9 99.57 0 NM_031466 PALM2 98.64 0 NM_001037293 NOTCH1 96.74 0 NM_017617 NSMF 93.42 0 NM_015537 MASTL 99.20 0 NM_032844 FGF8 78.88 0 NM_033163 WDR11 99.33 0 NM_018117 CCKBR 99.61 0 NM_176875 FSHB 99.64 0 NM_000510 PLEKHA5 98.89 0 NM_001143821 PDE3A 99.05 0 NM_000921 TSPAN11 99.69 0 NM_001080509 AMN1 99.52 0 NM_001113402 TAC3 99.64 0 NM_013251 DUSP6 99.68 0 NM_001946 POLR3B 99.29 0 NM_018082 CRY1 99.26 0 NM_004075 NOS1 99.42 0 NM_000620 SEMA7A 92.63 0 NM_003612 DCC 99.55 0 NM_005215 KISS1R 85.01 0 NM_032551 AXL 99.69 0 NM_021913 LHB 99.69 0 NM_000894 PROKR2 99.69 0 NM_144773 JAG1 97.49 0 NM_000214 FLRT3 99.67 0 NM_198391 SOX10 93.26 0 NM_006941 ANOS1 93.11 0 NM_000216 NR0B1 99.34 0 NM_000475 FGF13 99.32 0 NM_004114 SOX3 83.29 0 NM_005634 -
Hypogonadotropic hypogonadism (33 genes) - VUB
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments ANOS1 95.04 0 No comment CHD7 100.00 0 No comment DMXL2 100.00 0 No comment DUSP6 100.00 0 No comment FEZF1 100.00 0 No comment FGF17 100.00 0 No comment FGF8 94.82 0 No comment FGFR1 100.00 0 No comment FLRT3 100.00 0 No comment FSHB 100.00 0 No comment GNRH1 100.00 0 No comment GNRHR 100.00 0 No comment HESX1 100.00 0 No comment HS6ST1 98.52 0 No comment IL17RD 98.31 0 No comment KISS1 100.00 0 No comment KISS1R 94.58 0 No comment LHB 97.18 0 No comment MKRN3 100.00 0 No comment NR0B1 100.00 0 No comment NSMF 95.23 0 No comment OTUD4 100.00 0 No comment PCSK1 100.00 0 No comment PNPLA6 100.00 0 No comment PROK2 98.51 0 No comment PROKR2 100.00 0 No comment RNF216 100.00 0 No comment SEMA3A 100.00 0 No comment SEMA7A 93.22 0 No comment SOX10 96.79 0 No comment TAC3 100.00 0 No comment TACR3 100.00 0 No comment WDR11 100.00 0 No comment -
Premature Ovarian Failure/Insufficiency (32 genes) - VUB
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments AFF2 100.00 0 AMH 75.52 0 AMHR2 100.00 0 BMP15 100.00 0 DACH2 99.75 0 DAZL 100.00 0 DIAPH2 100.00 0 DMC1 100.00 0 ESR1 99.95 0 FIGLA 98.07 0 FMR1 100.00 0 FOXL2 85.42 0 FOXO1 86.72 0 FOXO3 99.72 0 FSHR 100.00 0 GDF9 100.00 0 GPR3 100.00 0 HFM1 100.00 0 INHA 100.00 0 LHCGR 99.37 0 MCM8 97.95 0 MSH5 99.82 -2 NOBOX 100.00 0 NR5A1 100.00 0 PATL2 100.00 0 PGRMC1 100.00 0 POF1B 100.00 0 SOHLH1 100.00 0 SOHLH2 96.06 0 STAG3 99.70 0 TGFBR3 100.00 0 XPNPEP2 100.00 0