Disorders of Sex Development V01

Home , Campomelic dysplasia, Leydig cell hypoplasia, Lissencephaly, Waardenburg syndrome

2/1/2021 Disorders of sex development v01

Avdeling for medisinsk genetikk

Disorders of sex development

Genpanel, versjon v01

* Enkelte genomiske regioner har lav eller ingen sekvensdekning ved eksomsekvensering. Dette skyldes at de har stor likhet med andre områder i genomet, slik at spesiﬁkk gjenkjennelse av disse områdene og påvisning av varianter i disse områdene, blir vanskelig og upålitelig. Disse genetiske regionene har vi identiﬁsert ved å benytte USCS segmental duplication hvor områder større enn 1 kb og ≥90% likhet med andre regioner i genomet, gjenkjennes (https://genome.ucsc.edu).

Vi gjør oppmerksom på at ved identiﬁseringav ekson oppstrøms for startkodon kan eksonnummereringen endres uten at transkript ID endres.

Avdelingens websider har en full oversikt over områder som er aﬃsert av segmentale duplikasjoner.

** Transkriptets kodende ekson.

Ekson Gen Gen aﬃsert (HGNC (HGNC Transkript Ekson** Fenotype av symbol) ID) segdup* AMH 464 NM_000479.4 1-5 Persistent Mullerian duct syndrome, type I OMIM

AMHR2 465 NM_020547.3 1-11 Persistent Mullerian duct syndrome, type II OMIM AR 644 NM_000044.4 1-8 Androgen insensitivity OMIM Androgen insensitivity, partial, with or without breast cancer OMIM Hypospadias 1, X-linked OMIM Spinal and bulbar muscular atrophy of Kennedy OMIM

ﬁle:///data/DSD_v01-web.html 1/6 2/1/2021 Disorders of sex development v01 Ekson Gen Gen aﬃsert (HGNC (HGNC Transkript Ekson** Fenotype av symbol) ID) segdup* ARX 18060 NM_139058.2 1-5 Epileptic encephalopathy, early infantile, 1 OMIM Hydranencephaly with abnormal genitalia OMIM Lissencephaly, X-linked 2 OMIM Mental retardation, X-linked 29 and others OMIM Partington syndrome OMIM Proud syndrome OMIM ATRX 886 NM_000489.4 1-35 Alpha-thalassemia/mental retardation syndrome OMIM Mental retardation-hypotonic facies syndrome, X-linked OMIM BMP15 1068 NM_005448.2 1-2 Ovarian dysgenesis 2 OMIM Premature ovarian failure 4 OMIM

CBX2 1552 NM_005189.2 1-5 ?46XY sex reversal 5 OMIM

CDKN1C 1786 NM_000076.2 1-2 Beckwith-Wiedemann syndrome OMIM IMAGE syndrome OMIM

CHD7 20626 NM_017780.3 2-38 CHARGE syndrome OMIM Hypogonadotropic hypogonadism 5 with or without anosmia OMIM CYB5A 2570 NM_001914.3 1-4 ?Methemoglobinemia, type IV OMIM

CYP11A1 2590 NM_000781.2 1-9 Adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete OMIM CYP17A1 2593 NM_000102.3 1-8 17,20-lyase deficiency, isolated OMIM 17-alpha-hydroxylase/17,20-lyase deficiency OMIM CYP19A1 2594 NM_031226.2 3-11 Aromatase deficiency OMIM Aromatase excess syndrome OMIM DHCR7 2860 NM_001360.2 3-9 Smith-Lemli-Opitz syndrome OMIM

ﬁle:///data/DSD_v01-web.html 2/6 2/1/2021 Disorders of sex development v01 Ekson Gen Gen aﬃsert (HGNC (HGNC Transkript Ekson** Fenotype av symbol) ID) segdup* DHH 2865 NM_021044.3 1-3 46XY partial gonadal dysgenesis, with minifascicular neuropathy OMIM 46XY sex reversal 7 OMIM DMRT1 2934 NM_021951.2 1-5

FAM58A 28434 NM_152274.4 1-7 STAR syndrome OMIM

FRAS1 19185 NM_025074.6 1-74 Fraser syndrome 1 OMIM

FREM2 25396 NM_207361.5 1-24 Fraser syndrome 2 OMIM

GATA4 4173 NM_002052.4 2-7 ?Testicular anomalies with or without congenital heart disease OMIM Atrial septal defect 2 OMIM Atrioventricular septal defect 4 OMIM Tetralogy of Fallot OMIM Ventricular septal defect 1 OMIM GNRHR 4421 NM_000406.2 1-3 Hypogonadotropic hypogonadism 7 without anosmia OMIM GRIP1 18708 NM_021150.3 1-24 Fraser syndrome 3 OMIM

HOXA13 5102 NM_000522.4 1-2 Guttmacher syndrome OMIM Hand-foot-uterus syndrome OMIM

HSD17B3 5212 NM_000197.1 1-11 Pseudohermaphroditism, male, with gynecomastia OMIM HSD3B2 5218 NM_000198.3 2-4 Adrenal hyperplasia, congenital, due to 3- beta-hydroxysteroid dehydrogenase 2 deﬁciency OMIM ICK 21219 NM_016513.4 3-15 Endocrine-cerebroosteodysplasia OMIM

IRF6 6121 NM_006147.3 3-9 Popliteal pterygium syndrome 1 OMIM van der Woude syndrome OMIM

ﬁle:///data/DSD_v01-web.html 3/6 2/1/2021 Disorders of sex development v01 Ekson Gen Gen aﬃsert (HGNC (HGNC Transkript Ekson** Fenotype av symbol) ID) segdup* LHCGR 6585 NM_000233.3 1-11 Leydig cell hypoplasia with hypergonadotropic hypogonadism OMIM Leydig cell hypoplasia with pseudohermaphroditism OMIM Luteinizing hormone resistance, female OMIM Precocious puberty, male OMIM MAMLD1 2568 NM_005491.4 1-6 Hypospadias 2, X-linked OMIM

MAP3K1 6848 NM_005921.1 1-20 46XY sex reversal 6 OMIM

MID1 7095 NM_000381.3 10 2-10 Opitz GBBB syndrome, type I OMIM

MKKS 7108 NM_018848.3 3-6 Bardet-Biedl syndrome 6 OMIM McKusick-Kaufman syndrome OMIM

NR0B1 7960 NM_000475.4 1-2 46XY sex reversal 2, dosage-sensitive OMIM Adrenal hypoplasia, congenital OMIM NR5A1 7983 NM_004959.4 2-7 46, XX sex reversal 4 OMIM 46XY sex reversal 3 OMIM Adrenocortical insuﬃciency OMIM Premature ovarian failure 7 OMIM Spermatogenic failure 8 OMIM NSMF 29843 NM_015537.4 1-15 Hypogonadotropic hypogonadism 9 with or without anosmia OMIM

PBX1 8632 NM_002585.3 1-9 Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay OMIM POR 9208 NM_000941.2 2-16 Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis OMIM Disordered steroidogenesis due to cytochrome P450 oxidoreductase OMIM PROKR2 15836 NM_144773.3 2-3 Hypogonadotropic hypogonadism 3 with or without anosmia OMIM

ﬁle:///data/DSD_v01-web.html 4/6 2/1/2021 Disorders of sex development v01 Ekson Gen Gen aﬃsert (HGNC (HGNC Transkript Ekson** Fenotype av symbol) ID) segdup* RPL10 10298 NM_006013.4 2-7 Mental retardation, X-linked, syndromic, 35 OMIM RSPO1 21679 NM_001038633.3 8,4-7 Palmoplantar hyperkeratosis and true hermaphroditism OMIM Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and sex reversal OMIM SAMD9 1348 NM_017654.3 3 MIRAGE syndrome OMIM

SOX10 11190 NM_006941.3 2-4 PCWH syndrome OMIM Waardenburg syndrome, type 2E, with or without neurologic involvement OMIM Waardenburg syndrome, type 4C OMIM SOX2 11195 NM_003106.3 1 1 Optic nerve hypoplasia and abnormalities of the central nervous system OMIM Microphthalmia, syndromic 3 OMIM SOX3 11199 NM_005634.2 1 Panhypopituitarism, X-linked OMIM

SOX8 11203 NM_014587.4 1-3 Disorder of sex development, premature ovarian failure PubMed

SOX9 11204 NM_000346.3 1-3 Acampomelic campomelic dysplasia OMIM Campomelic dysplasia OMIM Campomelic dysplasia with autosomal sex reversal OMIM SRY 11311 NM_003140.2 1 46XX sex reversal 1 OMIM 46XY sex reversal 1 OMIM

STAR 11359 NM_000349.2 1-7 Lipoid adrenal hyperplasia OMIM

TACR3 11528 NM_001059.2 1-5 Hypogonadotropic hypogonadism 11 with or without anosmia OMIM

TOE1 15954 NM_025077.3 1-8 Pontocerebellar hypoplasia, type 7 OMIM

TSPYL1 12382 NM_003309.3 1 Sudden infant death with dysgenesis of the testes syndrome OMIM

ﬁle:///data/DSD_v01-web.html 5/6 2/1/2021 Disorders of sex development v01 Ekson Gen Gen aﬃsert (HGNC (HGNC Transkript Ekson** Fenotype av symbol) ID) segdup* UBR1 16808 NM_174916.2 1-47 Johanson-Blizzard syndrome OMIM

WNT4 12783 NM_030761.4 1-5 ?SERKAL syndrome OMIM Mullerian aplasia and hyperandrogenism OMIM WT1 12796 NM_024426.4 1-10 Denys-Drash syndrome OMIM Frasier syndrome OMIM Meacham syndrome OMIM Nephrotic syndrome, type 4 OMIM Wilms tumor, type 1 OMIM ZFPM2 16700 NM_012082.3 1-8 46XY sex reversal 9 OMIM Tetralogy of Fallot OMIM

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