DSD panel. 12-Mar-2018 (103 genen) Centrum voor Medische Genetica Gent. versie

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1 versie 12-Mar-2018 (103 genen) DSD panel Centrum voor Medische Genetica Gent Gene OMIM gene ID Associated phenotype, OMIM phenotype ID, phenotype mapping key and inheritance pattern AKR1C Obesity, hyperphagia, and developmental delay (3); 46XY sex reversal 8, (3), Autosomal AKR1C {46XY sex reversal 8, modifier of}, (3), Autosomal AMH Persistent Mullerian duct syndrome, type I, (3), Autosomal AMHR ANOS Persistent Mullerian duct syndrome, type II, (3), Autosomal Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1), (3), X-linked AR ARX ATRX 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}, ; Spinal and bulbar muscular atrophy of Kennedy, (3), X-linked 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 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, ; Premature ovarian failure 4, BMP Microphthalmia, syndromic 6, ; Orofacial cleft 11, (3) CBX ?46XY sex reversal 5, (3), Autosomal CHD CHARGE syndrome, ; Hypogonadotropic hypogonadism 5 with or without anosmia, (3), Autosomal dominant CREBBP Rubinstein-Taybi syndrome 1, /7

2 CYB5A ?Methemoglobinemia, type IV, (3), Autosomal 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, glucocorticoidremediable, CYP17A alpha-hydroxylase/17,20-lyase deficiency, (3), Autosomal ; 17,20-lyase deficiency, isolated, (3), Autosomal CYP19A CYP21A Aromatase deficiency, (3); Aromatase excess syndrome, 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 DUSP EP ?Deafness, autosomal dominant 71, (3), Autosomal dominant;?polyendocrine-polyneuropathy syndrome, (3), Autosomal Hypogonadotropic hypogonadism 19 with or without anosmia, Colorectal cancer, somatic, (3); Rubinstein-Taybi syndrome 2, ESR {Atherosclerosis, susceptibility to} (3); {Breast cancer}, (1), ; Estrogen resistance, (3), Autosomal ; {HDL response to hormone replacement, augmented} (3); {Migraine, susceptibility to}, ; {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, FGF Hypogonadotropic hypogonadism 6 with or without anosmia, FGF ?Multiple synostoses syndrome 3, /7

3 FGFR Encephalocraniocutaneous lipomatosis, (3), Somatic mosaicism; Hartsfield syndrome, ; Hypogonadotropic hypogonadism 2 with or without anosmia, ; Jackson-Weiss syndrome, (3), ; Osteoglophonic dysplasia, (3), Autosomal dominant; Pfeiffer syndrome, ; Trigonocephaly 1, FGFR FLRT FOXL FSHB FSHR GATA Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis, (3), Autosomal ; Apert syndrome, ; Beare-Stevenson cutis gyrata syndrome, ; Bent bone dysplasia syndrome, ; Craniofacial-skeletaldermatologic dysplasia, ; Craniosynostosis, nonspecific (3); Crouzon syndrome, (3), ; Gastric cancer, somatic, (3); Jackson-Weiss syndrome, ; LADD syndrome, ; Pfeiffer syndrome, (3), Autosomal dominant; Saethre-Chotzen syndrome, ; Scaphocephaly and Axenfeld-Rieger anomaly (3); Scaphocephaly, maxillary retrusion, and mental retardation, (3) Hypogonadotropic hypogonadism 21 with anosmia, (3), Blepharophimosis, epicanthus inversus, and ptosis, type 1, (3), ; Blepharophimosis, epicanthus inversus, and ptosis, type 2, ; Premature ovarian failure 3, Hypogonadotropic hypogonadism 24 without anosmia, (3), Autosomal Ovarian dysgenesis 1, (3), Autosomal ; Ovarian hyperstimulation syndrome, ; Ovarian response to FSH stimulation, (3), Autosomal Atrial septal defect 2, ; Atrioventricular septal defect 4, ;?Testicular anomalies with or without congenital heart disease, (3), Autosomal dominant; Tetralogy of Fallot, ; Ventricular septal defect 1, 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, HHAT No OMIM phenotype HOXA Guttmacher syndrome, ; Hand-footuterus syndrome, HS6ST HSD17B HSD17B HSD3B {Hypogonadotropic hypogonadism 15 with or without anosmia}, Pseudohermaphroditism, male, with gynecomastia, (3), Autosomal D-bifunctional protein deficiency, (3), Autosomal ; Perrault syndrome 1, (3), Autosomal Adrenal hyperplasia, congenital, due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency, (3), Autosomal IL17RD Hypogonadotropic hypogonadism 18 with or without anosmia, INSL Cryptorchidism, 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), 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, 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, MID Opitz GBBB syndrome, type I, (3), X-linked MSH No OMIM phenotype NOBOX Premature ovarian failure 5, /7

5 NR0B NR2F NR5A Adrenal hypoplasia, congenital, (3), X-linked ; 46XY sex reversal 2, dosage-sensitive, (3), X-linked Congenital heart defects, multiple types, 4, (3), Autosomal dominant Adrenocortical insufficiency, ; Premature ovarian failure 7, ; Spermatogenic failure 8, ; 46, XX sex reversal 4, ; 46XY sex reversal 3, NSMF Hypogonadotropic hypogonadism 9 with or without anosmia, NUP Nephrotic syndrome, type 11, (3), Autosomal OTUD No OMIM phenotype PATL No OMIM phenotype PCSK Obesity with impaired prohormone processing, (3), Autosomal ; {Obesity, susceptibility to, BMIQ12}, (3) PNPLA POLR3A POR Boucher-Neuhauser syndrome, (3), Autosomal ;?Laurence-Moon syndrome, (3), Autosomal ; Oliver-McFarlane syndrome, (3), Autosomal ; Spastic paraplegia 39, autosomal, (3), Autosomal Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism, (3), Autosomal Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis, (3), Autosomal ; Disordered steroidogenesis due to cytochrome P450 oxidoreductase, (3) PROK PROKR Hypogonadotropic hypogonadism 4 with or without anosmia, Hypogonadotropic hypogonadism 3 with or without anosmia, PROP Pituitary hormone deficiency, combined, 2, (3), Autosomal PSMC3IP Ovarian dysgenesis 3, (3), Autosomal 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}, SEMA7A [Blood group, John-Milton-Hagen system], (3) 5/7

6 SOX SOX SOX PCWH syndrome, ; Waardenburg syndrome, type 2E, with or without neurologic involvement, (3), ; Waardenburg syndrome, type 4C, (3), Microphthalmia, syndromic 3, ; Optic nerve hypoplasia and abnormalities of the central nervous system, Mental retardation, X-linked, with isolated growth hormone deficiency, (3); Panhypopituitarism, X-linked, (3), X-linked SOX No OMIM phenotype SOX SPRY Acampomelic campomelic dysplasia, ; Campomelic dysplasia, ; Campomelic dysplasia with autosomal sex reversal, Hypogonadotropic hypogonadism 17 with or without anosmia, SRD5A Pseudovaginal perineoscrotal hypospadias, (3), Autosomal SRY XX sex reversal 1, (3); 46XY sex reversal 1, (3) STAR Lipoid adrenal hyperplasia, (3), Autosomal TAC Hypogonadotropic hypogonadism 10 with or without anosmia, (3), Autosomal TACR TSPYL WDR WNT Hypogonadotropic hypogonadism 11 with or without anosmia, (3), Autosomal Sudden infant death with dysgenesis of the testes syndrome, (3), Autosomal Hypogonadotropic hypogonadism 14 with or without anosmia, Mullerian aplasia and hyperandrogenism, (3), Autosomal dominant;?serkal syndrome, (3), Autosomal WT WWOX ZFPM Denys-Drash syndrome, , Somatic mutation; Frasier syndrome, , Somatic mutation; Meacham syndrome, (3); Mesothelioma, somatic, (3); Nephrotic syndrome, type 4, (3), Autosomal dominant; Wilms tumor, type 1, , Somatic mutation Epileptic encephalopathy, early infantile, 28, (3), Autosomal ; Esophageal squamous cell carcinoma, somatic, (3); Spinocerebellar ataxia, autosomal 12, (3), Autosomal Diaphragmatic hernia 3, (3); Tetralogy of Fallot, (3), ; 46XY sex reversal 9, (3), Autosomal dominant 6/7

7 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: June 06, 2017 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

DSD panel. versie V2 (79 genen) Centrum voor Medische Genetica Gent

DSD panel. versie V2 (79 genen) Centrum voor Medische Genetica Gent DSD panel versie V2 (79 genen) Centrum voor Medische Genetica Gent Gene OMIM gene ID Associated phenotype, OMIM phenotype ID, phenotype mapping key and inheritance pattern AKR1C2 600450 Obesity, hyperphagia,