DSD panel. Persistent Mullerian duct syndrome, type I, (3), Autosomal recessive AMHR
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1 versie (122 genen) DSD panel Centrum voor Medische Genetica Gent Github commit: 053b2b9ab0c87deb7778cc9b1eeb160c044bc9dc Gene OMIM gene ID Associated phenotype, OMIM phenotype ID, phenotype mapping key and inheritance pattern AKR1C XY sex reversal 8, (3), Autosomal AKR1C {46XY sex reversal 8, modifier of}, (3), Autosomal AMH Persistent Mullerian duct syndrome, type I, (3), Autosomal AMHR Persistent Mullerian duct syndrome, type II, (3), Autosomal ANOS Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1), (3), X-linked AR Androgen insensitivity, (3), X-linked ; Androgen insensitivity, partial, with or without breast cancer, (3), X- linked ; Hypospadias 1, X-linked, (3), X-linked ; {Prostate cancer, susceptibility to}, (3), Autosomal dominant; Spinal and bulbar muscular atrophy of Kennedy, (3), X-linked ARX Epileptic encephalopathy, early infantile, 1, (3), X-linked ; Hydranencephaly with abnormal genitalia, (3), X- linked; Lissencephaly, X-linked 2, (3), X-linked; Mental retardation, X-linked 29 and others, (3), X-linked ; Partington syndrome, (3), X-linked ; Proud syndrome, (3), X-linked ATRX Alpha-thalassemia myelodysplasia syndrome, somatic, (3); Alpha-thalassemia/mental retardation syndrome, (3), X- linked dominant; Mental retardation-hypotonic facies syndrome, X- linked, (3), X-linked AXL No OMIM phenotype BMP Ovarian dysgenesis 2, (3), X-linked; Premature ovarian failure 4, (3), X-linked BMP Microphthalmia, syndromic 6, (3), ; Orofacial cleft 11, (3) BNC No OMIM phenotype CBX ?46XY sex reversal 5, (3), Autosomal CHD CHARGE syndrome, (3), ; Hypogonadotropic hypogonadism 5 with or without anosmia, (3), CREBBP Rubinstein-Taybi syndrome 1, (3), CYB5A Methemoglobinemia and ambiguous genitalia, (3), Autosomal 1/7
2 CYP11A Adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete, (3) CYP11B Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency, (3), Autosomal ; Aldosteronism, glucocorticoid-remediable, (3), CYP17A alpha-hydroxylase/17,20-lyase deficiency, (3), Autosomal ; 17,20-lyase deficiency, isolated, (3), Autosomal CYP19A Aromatase deficiency, (3); Aromatase excess syndrome, (3), CYP21A Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency, (3), Autosomal ; Hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency, (3), Autosomal DHCR Smith-Lemli-Opitz syndrome, (3), Autosomal DHH XY partial gonadal dysgenesis, with minifascicular neuropathy, (3); 46XY sex reversal 7, (3), Autosomal DMRT No OMIM phenotype DMXL ?Deafness, autosomal dominant 71, (3), Autosomal dominant;?polyendocrine-polyneuropathy syndrome, (3), Autosomal DUSP Hypogonadotropic hypogonadism 19 with or without anosmia, (3), EIF4ENIF No OMIM phenotype EP Colorectal cancer, somatic, (3); Rubinstein-Taybi syndrome 2, (3), ESR {Atherosclerosis, susceptibility to} (3); {Breast cancer}, (1), ; Estrogen resistance, (3), Autosomal ; {HDL response to hormone replacement, augmented} (3); {Migraine, susceptibility to}, (3), ; {Myocardial infarction, susceptibility to}, (3) ESR No OMIM phenotype FANCM No OMIM phenotype FEZF Hypogonadotropic hypogonadism 22, with or without anosmia, (3), Autosomal FGF Hypogonadotropic hypogonadism 20 with or without anosmia, (3), FGF Hypogonadotropic hypogonadism 6 with or without anosmia, (3), FGF Multiple synostoses syndrome 3, (3), 2/7
3 FGFR Encephalocraniocutaneous lipomatosis, (3), Somatic mosaicism; Hartsfield syndrome, (3), ; Hypogonadotropic hypogonadism 2 with or without anosmia, (3), ; Jackson-Weiss syndrome, (3), ; Osteoglophonic dysplasia, (3), ; Pfeiffer syndrome, (3), Autosomal dominant; Trigonocephaly 1, (3), FGFR Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis, (3), ; Apert syndrome, (3), ; Beare-Stevenson cutis gyrata syndrome, (3), ; Bent bone dysplasia syndrome, (3), ; Craniofacial-skeletaldermatologic dysplasia, (3), ; Craniosynostosis, nonspecific (3); Crouzon syndrome, (3), ; Gastric cancer, somatic, (3); Jackson- Weiss syndrome, (3), ; LADD syndrome, (3), ; Pfeiffer syndrome, (3), ; Saethre-Chotzen syndrome, (3), ; Scaphocephaly and Axenfeld-Rieger anomaly (3); Scaphocephaly, maxillary retrusion, and mental retardation, (3) FIGLA Premature ovarian failure 6, (3), FLRT Hypogonadotropic hypogonadism 21 with anosmia, (3), FOXL Blepharophimosis, epicanthus inversus, and ptosis, type 1, (3), ; Blepharophimosis, epicanthus inversus, and ptosis, type 2, (3), ; Premature ovarian failure 3, (3), FSHB Hypogonadotropic hypogonadism 24 without anosmia, (3), Autosomal FSHR Ovarian dysgenesis 1, (3), Autosomal ; Ovarian hyperstimulation syndrome, (3), ; Ovarian response to FSH stimulation, (3), Autosomal GATA Atrial septal defect 2, (3), ; Atrioventricular septal defect 4, (3), ;?Testicular anomalies with or without congenital heart disease, (3), ; Tetralogy of Fallot, (3), ; Ventricular septal defect 1, (3), GDF ?Premature ovarian failure 14, (3), Autosomal GNRH ?Hypogonadotropic hypogonadism 12 with or without anosmia, (3), Autosomal GNRHR Hypogonadotropic hypogonadism 7 without anosmia, (3), Autosomal HDAC Cornelia de Lange syndrome 5, (3), X-linked dominant 3/7
4 HESX Growth hormone deficiency with pituitary anomalies, (3), Autosomal, ; Pituitary hormone deficiency, combined, 5, (3), Autosomal, Autosomal dominant; Septooptic dysplasia, (3), Autosomal, HFM Premature ovarian failure 9, (3), Autosomal HHAT No OMIM phenotype HOXA Guttmacher syndrome, (3), ; Hand-footuterus syndrome, (3), HS6ST {Hypogonadotropic hypogonadism 15 with or without anosmia}, (3), HSD17B Pseudohermaphroditism, male, with gynecomastia, (3), Autosomal HSD17B D-bifunctional protein deficiency, (3), Autosomal ; Perrault syndrome 1, (3), Autosomal HSD3B Adrenal hyperplasia, congenital, due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency, (3), Autosomal IL17RD Hypogonadotropic hypogonadism 18 with or without anosmia, (3), Autosomal, INSL Cryptorchidism, (3), KHDRBS No OMIM phenotype KISS ?Hypogonadotropic hypogonadism 13 with or without anosmia, (3), Autosomal KISS1R Hypogonadotropic hypogonadism 8 with or without anosmia, (3), Autosomal ;?Precocious puberty, central, 1, (3), LARS ?Hydrops, lactic acidosis, and sideroblastic anemia, (3), Autosomal ; Perrault syndrome 4, (3), Autosomal LEP Obesity, morbid, due to leptin deficiency, (3), Autosomal LEPR Obesity, morbid, due to leptin receptor deficiency, (3) LHB Hypogonadotropic hypogonadism 23 with or without anosmia, (3), Autosomal LHCGR Leydig cell adenoma, somatic, with precocious puberty, (3); Leydig cell hypoplasia with hypergonadotropic hypogonadism, (3), Autosomal ; Leydig cell hypoplasia with pseudohermaphroditism, (3), Autosomal ; Luteinizing hormone resistance, female, (3), Autosomal ; Precocious puberty, male, (3), Autosomal dominant LHX No OMIM phenotype LHX Pituitary hormone deficiency, combined, 3, (3), Autosomal MAMLD Hypospadias 2, X-linked, (3), X-linked MAP3K XY sex reversal 6, (3), 4/7
5 MCM ?Premature ovarian failure 10, (3), Autosomal MCM Ovarian dysgenesis 4, (3), Autosomal MID Opitz GBBB syndrome, type I, (3), X-linked MRPS Combined oxidative phosphorylation deficiency 5, (3), Autosomal MSH No OMIM phenotype MSH ?Premature ovarian failure 13, (3), Autosomal NANOS No OMIM phenotype NOBOX Premature ovarian failure 5, (3), NR0B Adrenal hypoplasia, congenital, (3), X-linked ; 46XY sex reversal 2, dosage-sensitive, (3), X-linked NR2F Congenital heart defects, multiple types, 4, (3), Autosomal dominant NR5A Adrenocortical insufficiency, (3), ; Premature ovarian failure 7, (3), ; Spermatogenic failure 8, (3), ; 46, XX sex reversal 4, (3), ; 46XY sex reversal 3, (3), NSMF Hypogonadotropic hypogonadism 9 with or without anosmia, (3), NUP Nephrotic syndrome, type 11, (3), Autosomal OTUD No OMIM phenotype PATL Oocyte maturation defect 4, (3), Autosomal PCSK Obesity with impaired prohormone processing, (3), Autosomal ; {Obesity, susceptibility to, BMIQ12}, (3) PNPLA Boucher-Neuhauser syndrome, (3), Autosomal ;?Laurence-Moon syndrome, (3), Autosomal ; Oliver- McFarlane syndrome, (3), Autosomal ; Spastic paraplegia 39, autosomal, (3), Autosomal POF1B ?Premature ovarian failure 2B, (3), X-linked POLR2C No OMIM phenotype POLR3A Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism, (3), Autosomal POR Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis, (3), Autosomal ; Disordered steroidogenesis due to cytochrome P450 oxidoreductase, (3) PROK Hypogonadotropic hypogonadism 4 with or without anosmia, (3), PROKR Hypogonadotropic hypogonadism 3 with or without anosmia, (3), PROP Pituitary hormone deficiency, combined, 2, (3), Autosomal PSMC3IP Ovarian dysgenesis 3, (3), Autosomal 5/7
6 RNF Cerebellar ataxia and hypogonadotropic hypogonadism, (3), Autosomal RSPO Palmoplantar hyperkeratosis and true hermaphroditism, (3), Autosomal ; Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and sex reversal, (3), Autosomal RXFP No OMIM phenotype SEMA3A {Hypogonadotropic hypogonadism 16 with or without anosmia}, (3), SEMA7A [Blood group, John-Milton-Hagen system], (3) SOHLH Ovarian dysgenesis 5, (3), Autosomal SOHLH No OMIM phenotype SOX PCWH syndrome, (3), ; Waardenburg syndrome, type 2E, with or without neurologic involvement, (3), ; Waardenburg syndrome, type 4C, (3), SOX Microphthalmia, syndromic 3, (3), ; Optic nerve hypoplasia and abnormalities of the central nervous system, (3), SOX Mental retardation, X-linked, with isolated growth hormone deficiency, (3); Panhypopituitarism, X-linked, (3), X- linked SOX No OMIM phenotype SOX Acampomelic campomelic dysplasia, (3), Autosomal dominant; Campomelic dysplasia, (3), ; Campomelic dysplasia with autosomal sex reversal, (3), SPIDR No OMIM phenotype SPRY Hypogonadotropic hypogonadism 17 with or without anosmia, (3), SRD5A Pseudovaginal perineoscrotal hypospadias, (3), Autosomal SRY XX sex reversal 1, (3); 46XY sex reversal 1, (3) STAG Premature ovarian failure 8, (3), Autosomal STAR Lipoid adrenal hyperplasia, (3), Autosomal SYCE ?Premature ovarian failure 12, (3), Autosomal ;?Spermatogenic failure 15, (3), Autosomal TAC Hypogonadotropic hypogonadism 10 with or without anosmia, (3), Autosomal TACR Hypogonadotropic hypogonadism 11 with or without anosmia, (3), Autosomal TSPYL Sudden infant death with dysgenesis of the testes syndrome, (3), Autosomal WDR Hypogonadotropic hypogonadism 14 with or without anosmia, (3), 6/7
7 WNT Mullerian aplasia and hyperandrogenism, (3), Autosomal dominant;?serkal syndrome, (3), Autosomal WT Denys-Drash syndrome, (3),, Somatic mutation; Frasier syndrome, (3),, Somatic mutation; Meacham syndrome, (3); Mesothelioma, somatic, (3); Nephrotic syndrome, type 4, (3), ; Wilms tumor, type 1, (3), Autosomal dominant, Somatic mutation WWOX Epileptic encephalopathy, early infantile, 28, (3), Autosomal ; Esophageal squamous cell carcinoma, somatic, (3); Spinocerebellar ataxia, autosomal 12, (3), Autosomal ZFPM Diaphragmatic hernia 3, (3); Tetralogy of Fallot, (3), ; 46XY sex reversal 9, (3), Autosomal dominant ZNRF No OMIM phenotype Gene symbols used are according to the HGNC guidelines. For some genes a previously HGNCapproved symbol is in brackets. Each Phenotype is followed by its MIM number, phenotype mapping key and inheritance pattern. OMIM release used for OMIM disease identifiers and descriptions: July 04, 2018 Possible phenotype mapping keys (1) the disorder is placed on the map based on its association with a gene, but the underlying defect is not known (2) the disorder has been placed on the map by linkage; no mutation has been found (3) the molecular basis for the disorder is known; a mutation has been found in the gene (4) a contiguous gene deletion or duplication syndrome, multiple genes are deleted or duplicated causing the phenotype Brackets, "[ ]", indicate "nondiseases," mainly genetic variations that lead to apparently abnormal laboratory test values (e.g., dysalbuminemic euthyroidal hyperthyroxinemia). Braces, "{ }", indicate mutations that contribute to susceptibility to multifactorial disorders (e.g., diabetes, asthma) or to susceptibility to infection (e.g., malaria). A question mark, "?", before the phenotype name indicates that the relationship between the phenotype and gene is provisional. More details about this relationship are provided in the comment field of the map and in the gene and phenotype OMIM entries. 7/7
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