Genomics Precision Diagnostic > Reproductive > Reproductive Infertility

Infertility – 166 genes

Infertility is defined as the failure to conceive, regardless of the cause, after 1 year of unprotected intercourse.

Overview

Indication

Clinical Utility

Genes & Diseases

Methodology

References

Overview

Infertility is defined as the failure to conceive, regardless of the cause, after 1 year of unprotected intercourse. This condition affects approximately 10-15% of reproductive-aged couples. Infertility can be caused by a female factor, male factor or environmental. The female etiology of infertility can be cervical, uterine, ovarian, tubal or peritoneal. The male factors that affect fertility include pretesticular, testicular or post–testicular.
Environmental factors that affect fertility include excessive exercise, occupational, toxic substances, inadequate diet associated with extreme weight loss or gain as well as advanced age. In our current society, some women postpone childbearing until their 30s and beyond, so they tend to have more difficulty conceiving and increased risk of miscarriage. Clinically, it is a highly heterogeneous pathology with a complex etiology that includes environmental and genetic factors. It is estimated that nearly 50% of infertility cases are due to genetic defects.
The Igenomix Infertility Precision Panel can be used to make a directed and accurate differential diagnosis of inability to conceive ultimately leading to a better management and achieve a healthy baby at home. It provides a comprehensive analysis of the genes involved in this disease using next-generation sequencing (NGS) to fully understand the spectrum of relevant genes involved.

Indication

The Igenomix Infertility Precision Panel is indicated for those patients with clinical suspicion of infertility presenting with the following manifestations:

Inability to conceive after 1 year of unprotected intercourse
Family history of infertility
Recurrent miscarriages
Family history of recurrent miscarriages

Clinical Utility

The clinical utility of this panel is:

The genetic and molecular confirmation for an accurate clinical diagnosis of a symptomatic patient.
Early initiation of treatment with a multidisciplinary team for an initial consultation, workup and assisted reproductive technologies (ART).
Risk assessment of asymptomatic family members according to the mode of inheritance.

Genes & Diseases

All genes and diseases

Gene	OMIM Diseases	Inheritance*	% Gene Coverage (20x)	HGMD**
*ADGRG2*	Congenital Bilateral Absence Of Vas Deferens	X,G	99.64%	NA of NA
*AMH*	Persistent Mullerian Duct Syndrome, Types I And II	AR	98.17%	76 of 96
*AMHR2*	Persistent Mullerian Duct Syndrome, Types I And II	AR	100%	87 of 95
*ANOS1*	Hypogonadotropic Hypogonadism With Or Without Anosmia, Kallmann Syndrome, Normosmic Congenital Hypogonadotropic Hypogonadism	X,XR,G	96.86%	NA of NA
AR	Androgen Insensitivity Syndrome, X-linked hypospadias, Kennedy Disease, Partial Androgen Insensitivity Syndrome, Prostate Cancer, Reifenstein Syndrome, X-linked Spinal And Bulbar Muscular Atrophy	AD,X,XR,G	97.96%	NA of NA
*ARL13B*	Joubert Syndrome	AR	99.77%	10 of 10
*ARL6*	Bardet-Biedl Syndrome, Retinitis Pigmentosa	AD,AR,X,XR,G	100%	17 of 21
*AURKC*	Male Infertility With Large-Headed, Multiflagellar, Polyploid Spermatozoa	AR	100%	5 of 5
*BBS1*	Bardet-Biedl Syndrome	AR	100%	102 of 105
*BBS10*	Bardet-Biedl Syndrome	AR	100%	114 of 114
*BBS12*	Bardet-Biedl Syndrome	AR	99.78%	61 of 61
*BBS2*	Bardet-Biedl Syndrome, Retinitis Pigmentosa	AR	100%	99 of 100
*BBS4*	Bardet-Biedl Syndrome	AR	100%	45 of 48
*BBS5*	Bardet-Biedl Syndrome	AR	99.80%	30 of 31
*BBS7*	Bardet-Biedl Syndrome	AR	100%	48 of 48
*BBS9*	Bardet-Biedl Syndrome	AR	99.56%	50 of 51
*BMP15*	46,XX Gonadal Dysgenesis, Ovarian Dysgenesis	X,G	98.05%	NA of NA
*C8ORF37*	Bardet-Biedl Syndrome, Cone Rod Dystrophy, Retinitis Pigmentosa	AD,AR,X,XR,G	na	na
*CAPN10*	Noninsulin-Dependent Diabetes Mellitus, Metabolic Syndrome, Polycystic Ovarian Syndrome	–	99.92%	4 of 4
*CATSPER1*	Spermatogenic Failure	AR	99.97%	4 of 4
*CATSPER2*	Deafness-Infertility Syndrome	AR	99.87%	1 of 1
*CBX2*	46,XY Complete Gonadal Dysgenesis, 46XY Sex Reversal	AR	100%	6 of 6
*CC2D2A*	Coach Syndrome, Joubert Syndrome, Meckel Syndrome	AR	99.43%	98 of 100
*CCDC28B*	Bardet-Biedl Syndrome	AR	99.83%	1 of 1
*CEP164*	Nephronophthisis, Senior-Loken Syndrome	AR	99.98%	10 of 10
*CEP290*	Bardet-Biedl Syndrome, Joubert Syndrome, Leber Congenital Amaurosis, Meckel Syndrome, Senior-Loken Syndrome	AR	96.47%	293 of 327
*CFTR*	Bronchiectasis, Congenital Bilateral Absence Of Vas Deferens, Cystic Fibrosis, Hereditary Chronic Pancreatitis, Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation	AD,AR	95.45%	1615 of 1730
*CHD7*	CHARGE Syndrome, Hypogonadotropic Hypogonadism With Or Without Anosmia, Kallman Syndrome, Omenn Syndrome	AD	96.25%	823 of 896
*CYP11A1*	46,XY Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency, Congenital Adrenal Insufficiency With 46,XY Sex Reversal	–	100%	39 of 39
*CYP17A1*	46,XY Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency, Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	AR	100%	127 of 127
*CYP19A1*	Aromatase Deficiency, Aromatase Excess Syndrome	AD,AR	100%	33 of 35
*CYP21A2*	Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	AR	99.98%	278 of 280
*DENND1A*	Polycystic Ovarian Syndrome	–	98.61%	NA of NA
*DHH*	46XY Complete Gonadal Dysgenesis, 46XY Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome, 46XY Sex Reversal	AR	99.85%	21 of 21
*DIAPH2*	Premature Ovarian Failure	X,XD,G	98.66%	NA of NA
*DMC1*	Infertility Due to Meiotic and/or Mitotic Failure	–	100%	2 of 2
*DNAH1*	Primary Ciliary Dyskinesia, Spermatogenic Failure	AR	100%	58 of 58
*DNAH5*	Primary Ciliary Dyskinesia With Or Without Situs Inversus, Primary Ciliary Dyskinesia	AR	100%	277 of 278
*DNAI1*	Kartagener Syndrome, Primary Ciliary Dyskinesia	AR	96.91%	43 of 43
*DPY19L2*	Spermatogenic Failure	AR	97.65%	16 of 20
*DUSP6*	Hypogonadotropic Hypogonadism With Or Without Anosmia, Kallmann Syndrome, Normosmic Congenital Hypogonadotropic Hypogonadism	AD,AR	99.36%	4 of 4
*ENPP1*	Generalized Arterial Calcification Of Infancy, Autosomal Recessive Hypophosphatemic Rickets, Cole Disease, Noninsulin-dependent Diabetes Mellitus, Autosomal Recessive Hypophosphatemic Rickets, Obesity, Pseudoxanthoma Elasticum	AD,AR,MU,P	96.59%	73 of 75
*ESR1*	Breast Cancer, Estrogen Resistance Syndrome, Migraine With Or Without Aura	AD,AR	99.98%	14 of 14
F2	Congenital Factor II Deficiency, Congenital Prothrombin Deficiency, Ischemic Stroke, Pregnancy Loss, Venous Thromboembolism	AD,AR,MU	100%	66 of 66
F5	Budd-Chiari Syndrome, Memembranous Obstruction Of Inferior Vena Cava, Congenital Factor V Deficiency, Ischemic Stroke, Recurrent Pregnancy Loss, Thrombophilia Due To Deficiency Of Activated Protein C Cofactor	AD,AR,MU	99.99%	165 of 167
*FEZF1*	Hypogonadotropic Hypogonadism With Or Without Anosmia, Kallmann Syndrome	AR	99.95%	3 of 3
*FGF17*	Hypogonadotropic Hypogonadism With Or Without Anosmia, Kallmann Syndrome, Normosmic Congenital Hypogonadotropic Hypogonadism	AD,AR	99.98%	8 of 8
*FGF8*	Alobar Holoprosencephaly, Kallmann Syndrome, Lobar Holoprosencephaly, Microform Holoprosencephaly, Midline Interhemispheric Variant Of Holoprosencephaly, Normosmic Congenital Hypogonadotropic Hypogonadism, Septopreoptic Holoprosencephaly	AD	98.36%	38 of 38
*FGFR1*	Encephalocraniocutaneous Lipomatosis, Hartsfield Syndrome, Isolated Trigonocephaly, Jackson-Weiss Syndrome, Kallmann Syndrome, Lobar Holoprosencephaly, Microform Holoprosencephaly, Normosmic Congenital Hypogonadotropic Hypogonadism, Oligodontia, Osteoglophonic Dysplasia, Pfeiffer Syndrome, Septo-Optic Dysplasia Spectrum, Nonsyndromic Trigonocephaly	AD	100%	279 of 280
*FIGLA*	Premature Ovarian Failure	AD	98.47%	4 of 5
*FLRT3*	Hypogonadotropic Hypogonadism With Or Without Anosmia, Kallman Syndrome	AD	99.98%	7 of 7
*FMR1*	Fragile X Mental Retardation Syndrome, Fragile X-Associated Tremor/Ataxia Syndrome, Premature Ovarian Failure, XQ27.3q28 Duplication Syndrome	X,XD,G	99.80%	NA of NA
*FOXL2*	Blepharophimosis, Ptosis And Epicanthus Inversus, Premature Ovarian Failure	AD	89.36%	136 of 201
*FOXO3*	Chromosome 6Q Deletion, Rhabdomyosarcoma	–	95.67%	NA of NA
*FSHB*	Hypogonadotropic Hypogonadism Without Anosmia, Isolated Follicle Stimulating Hormone Deficiency	AR	100%	8 of 8
*FSHR*	46,XX Gonadal Dysgenesis, Ovarian Dysgenesis, Ovarian Hyperstimulation Syndrome	AD,AR	100%	41 of 43
*GALNTL5*	Male Infertility With Impairment of Sperm Motility		99.95%	2 of 2
*GALT*	Classic Galactosemia	AR	100%	350 of 350
*GDF9*	Premature Ovarian Failure	AR	100%	13 of 13
*GNRH1*	Hypogonadotropic Hypogonadism With Or Without Anosmia, Normosmic Congenital Hypogonadotropic Hypogonadism	AR	100%	12 of 12
*GNRHR*	Hypogonadotropic Hypogonadism Without Anosmia, Normosmic Congenital Hypogonadotropic Hypogonadism	AR	100%	59 of 59
*HESX1*	Combined Pituitary Hormone Deficiencies, Hypothyroidism, Kallmann Syndrome, Pituitary Stalk Interruption Syndrome, Septo-Optic Dysplasia Spectrum	AD,AR	100%	26 of 26
*HEXA*	Tay-Sachs Disease	AR	100%	205 of 206
*HFE*	Alzheimer Disease, Hemochromatosis, Porphyria Cutanea Tarda, Porphyria Variegata	AD,AR	100%	55 of 57
*HFM1*	Premature Ovarian Failure	AR	99.17%	10 of 10
*HS6ST1*	Hypogonadotropic Hypogonadism With Or Without Anosmia, Kallmann Syndrome, Normosmic Congenital Hypogonadotropic Hypogonadism	AD	99.97%	8 of 8
*HSD17B3*	46,XY Disorder Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency, Male Pseudohermaphroditism	AR	100%	61 of 61
*HSF2*	Familial Erythroleukemia, Y-linked Spermatogenic Failure		99.90%	1 of 1
*IFT172*	Bardet-Biedl Syndrome, Jeune Syndrome, Retinitis Pigmentosa, Short-Rib Thoracic Dysplasia With Or Without Polydactyly	AR	100%	37 of 37
*IFT27*	Bardet-Biedl Syndrome	AR	100%	5 of 5
*IL17RD*	Hypogonadotropic Hypogonadism With Or Without Anosmia, Kallmann Syndrome	AD,AR	99.95%	17 of 17
*INPP5E*	Joubert Syndrome, Mental Retardation, Truncal Obesity, Retinal Dystrophy, And Micropenis	AR	99.89%	56 of 56
*KIF7*	Acrocallosal Syndrome, Hydrolethalus Syndrome, Macrocephaly With Multiple Epiphyseal Dysplasia And Distinctive Facies, Orofaciodigital Syndrome	AR	94.91%	47 of 50
*KISS1*	Hypogonadotropic Hypogonadism With Or Without Anosmia, Normosmic Congenital Hypogonadotropic Hypogonadism	AR	100%	9 of 10
*KISS1R*	Hypogonadotropic Hypogonadism With Or Without Anosmia, Kallmann Syndrome, Normosmic Congenital Hypogonadotropic Hypogonadism, Central Precocious Puberty	AD,AR	99.41%	42 of 43
*KLHL10*	Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation, Spermatogenic Failure	AD	99.98%	5 of 5
*LEP*	Obesity Due To Congenital Leptin Deficiency	AR	100%	19 of 19
*LEPR*	Obesity Due To Leptin Receptor Gene Deficiency	AR	97.92%	49 of 49
*LHB*	Hypogonadotropic Hypogonadism Without Anosmia	AR	100%	11 of 11
*LHCGR*	Familial Male-Limited Precocious Puberty, Hypergonadotropic Hypogonadism	AD,AR	100%	75 of 75
*LHX3*	Sensorineural Deafness With Pituitary Dwarfism, Hypothyroidism, Non-Acquired Combined Pituitary Hormone Deficiency-Sensorineural Hearing Loss-Spine Abnormalities Syndrome	AR	99.97%	18 of 19
*LHX4*	Combined Pituitary Hormone Deficiencies, Hypothyroidism, Combined Pituitary Hormone Deficiency, Pituitary Stalk Interruption Syndrome	AD	99.95%	21 of 22
*LHX8*	Odontoma, Cerebral Hemisphere Lipoma		100%	2 of 2
*LZTFL1*	Bardet-Biedl Syndrome	AR	99.83%	4 of 4
*MAP3K1*	46XY Complete Gonadal Dysgenesis, 46XY Partial Gonadal Dysgenesis, 46XY Sex Reversal	AD	96.50%	31 of 32
*MCM8*	Premature Ovarian Failure, Natural At Age Menopause	AR	99.94%	10 of 10
*MCM9*	Ovarian Dysgenesis	AR	99.93%	12 of 12
*MKKS*	Bardet-Biedl Syndrome, Mckusick-Kaufman Syndrome	AR	89.96%	71 of 71
*MKS1*	Bardet-Biedl Syndrome, Joubert Syndrome, Meckel Syndrome,meckel Syndrome, Type 1	AR	99.98%	49 of 49
*MSH4*	Fanconi Anemia Complementation Group A, Premature Ovarian Failure, Lynch Syndrome		99.70%	3 of 3
*MTHFR*	Homocystinuria Due To Deficiency Of N(5,10)-Methylene Tetrahydrofolate Reductase Activity, Isolated Anencephaly, Isolated Exencephaly, Neural Tube Defects, Schizophrenia, Thrombophilia Venous Thromboembolism	AD,AR	100%	122 of 122
*MYO7A*	Autosomal Dominant Sensorineural Deafness, Autosomal Recessive Neurosensory Deafness, Usher Syndrome Type 1, Type 2	AD,AR	100%	579 of 580
*NANOS1*	Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation, Male Infertility With Teratozoospermia, Spermatogenic Failure	AD	75.55%	2 of 3
*NANOS3*	Freemartinism, Pediatric Germ Cell Cancer	–	99.99%	2 of 2
*NOBOX*	Premature Ovarian Failure	AD	90.55%	14 of 17
*NPHP1*	Bardet-Biedl Syndrome, Joubert Syndrome, Nephronophthisis, Senior-Loken Syndrome	AR	100%	58 of 59
*NPHP3*	Meckel Syndrome, Nephronophthisis, NPHP3-related Meckel-Like Syndrome, Renal-Hepatic-Pancreatic Dysplasia, Senior-Loken Syndrome	AR	99.99%	84 of 84
*NR0B1*	46XX Testicular Disorder Of Sex Development, 46XY Complete Gonadal Dysgenesis, 46XY Partial Gonadal Dysgenesis, Congenital Adrenal Hypoplasia	X,XR,G	99.87%	NA of NA
*NR0B2*	Obesity	AD,AR,MU,P	99.09%	15 of 15
*NR5A1*	46XX Gonadal Dysgenesis, 46XX Ovotesticular Disorder Of Sex Development, 46XX Sex Reversal, 46XX Testicular Disorder Of Sex Development, 46XY Complete Gonadal Dysgenesis, Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation, Premature Ovarian Failure, Spermatogenic Failure	AD	99.97%	222 of 224
*NSMF*	Hypogonadotropic Hypogonadism With Or Without Anosmia, Kallmann Syndrome, Normosmic Congenital Hypogonadotropic Hypogonadism	AD	99.69%	11 of 11
*OFD1*	Joubert Syndrome, Orofaciodigital Syndrome Type 1, Type 6, Primary Ciliary Dyskinesia, Retinitis Pigmentosa, Simpson-Golabi-Behmel Syndrome Type 2	X,XR,XD,G	98.09%	NA of NA
*PADI6*	Preimplantation Embryonic Lethality	AR	na	na
*PCSK1*	Obesity Due To Prohormone Convertase I Deficiency	AR	99.98%	45 of 45
*PGRMC1*	Preterm Premature Ruputre of Membranes, Placental choriocarcinoma, Premature Ovarian Failure	–	100%	NA of NA
*PHF6*	Borjeson-Forssman-Lehmann Syndrome	X,XR,G	99.93%	NA of NA
*PICK1*	Spermatogenic Failure, TARP syndrome, Depression		100%	1 of 1
*PLCZ1*	Spermatogenic Failure	AR	99.78%	8 of 8
*PNPLA6*	Ataxia-Hypogonadism-Choroidal Dystrophy Syndrome, Autosomal Recessive Spastic Paraplegia Type, Boucher-Neuhauser Syndrome, Cerebellar Ataxia-Hypogonadism Syndrome, Laurence-Moon Syndrome, Oliver-Mcfarlane Syndrome, Autosomal Recessive Spastic Paraplegia	AR	100%	65 of 65
*POF1B*	Premature Ovarian Failure	X,XR,G	99.54%	NA of NA
*POLR3B*	Hypomyelination-Hypogonadotropic Hypogonadism-Hypodontia Syndrome, Hypomyelinating Leukodystrophy With Or Without Oligodontia And/Orhypogonadotropic Hypogonadism	AR	100%	61 of 61
*POMC*	Obesity Due To Pro-opiomelanocortin Deficiency	AD,AR,MU,P	99.98%	40 of 40
*POU1F1*	Combined Pituitary Hormone Deficiencies, Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function, Pituitary Hormone Deficiency	AD,AR	100%	43 of 44
*PPARG*	Berardinelli-Seip Congenital Lipodystrophy, Carotid Intimal Medial Thickness ,Noninsulin-Dependent Diabetes Mellitus, Lipodystrophy, Obesity,pparg-related Familial Partial Lipodystrophy	AD,AR,MU,P	99.94%	53 of 53
*PROC*	Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency	AD,AR	99.94%	406 of 406
*PROK2*	Hypogonadotropic Hypogonadism With Or Without Anosmia, Kallmann Syndrome, Normosmic Congenital Hypogonadotropic Hypogonadism	AD	100%	20 of 20
*PROKR2*	Hypogonadotropic Hypogonadism With Or Without Anosmia, Kallmann Syndrome, Normosmic Congenital Hypogonadotropic Hypogonadism, Pituitary Stalk Interruption Syndrome, Septo-Optic Dysplasia Spectrum	AD	100%	64 of 64
*PROM1*	Cone Rod Dystrophy, Macular Dystrophy, Retinitis Pigmentosa, Stargardt Disease	AD,AR	99.61%	90 of 93
*PROP1*	Combined Pituitary Hormone Deficiencies, Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function, Non-Acquired Panhypopituitarism, Pituitary Dwarfism	AR	100%	35 of 36
*PROS1*	Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency, Thrombophilia Due To Protein S Deficiency	AD,AR	100%	403 of 405
*PRPH2*	Adult-Onset Foveomacular Vitelliform Dystrophy, Central Areolar Choroidal Dystrophy, Cone Rod Dystrophy, Retinitis Punctata Albescens, Vitelliform Macular Dystrophy, Patterned Dystrophy Of Retinal Pigment Epithelium, Retinitis Pigmentosa, Stargardt Disease	AD,AR	100%	188 of 188
*PSMC3IP*	46XX Gonadal Dysgenesis, Ovarian Dysgenesis	AR	99.96%	9 of 9
*RDH5*	Fundus Albipunctatus, Retinitis Punctata Albescens	AD,AR	100%	54 of 54
*REC8*	Azoospermia, 46XX Gonadal Dysgenesis		100%	4 of 4
*RHO*	Congenital Stationary Night Blindness, Fundus Albipunctatus, Retinitis Punctata Albescens, Retinitis Pigmentosa	AD,AR	100%	229 of 229
*RLBP1*	Bothnia Retinal Dystrophy, Fundus Albipunctatus, Retinitis Punctata Albescens, Rod-Cone Dystrophy, Retinitis Pigmentosa	AD,AR	100%	32 of 33
*RPGRIP1L*	Coach Syndrome, Joubert Syndrome, Meckel Syndrome	AR	99.96%	52 of 52
*RSPO1*	Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46XX Sex Reversal, Palmoplantar Keratoderma-XX Sex Reversal-Predisposition To Squamous Cell Carcinoma Syndrome	AR	100%	6 of 7
*SDCCAG8*	Bardet-Biedl Syndrome, Senior-Loken Syndrome	AR	96.29%	18 of 19
*SEMA3A*	Brugada Syndrome, Hypogonadotropic Hypogonadism With Or Without Anosmia, Kallmann Syndrome	AD	100%	29 of 29
*SEPTIN12*	Spermatogenic Failure	AD	99.84%	5 of 5
*SERPINC1*	Antithrombin III Deficiency, Hereditary Thrombophilia Due To Congenital Antithrombin Deficiency	AD,AR	100%	400 of 407
*SLC26A8*	Spermatogenic Failure	AD	98.81%	5 of 5
*SMC1B*	Corneal Dystrophy, 46XX Gonadal Dysgenesis		99.22%	3 of 3
*SOHLH1*	Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation, Ovarian Dysgenesis, Spermatogenic Failure	AD,AR	100%	9 of 10
*SOX10*	Kallmann Syndrome, Peripheral Demyelinating Neuropathy, Central Dysmyelinating Leukodystrophy, Waardenburg Syndrome, Hirschsprung Disease, Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, Waardenburg-Shah Syndrome	AD	99.74%	139 of 147
*SOX2*	Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome, Microphthalmia, Septo-Optic Dysplasia Spectrum	AD	99.91%	78 of 78
*SOX3*	46XX Testicular Disorder Of Sex Development, X-linked Mental Retardation With Isolated Growth Hormone Deficiency, Non-Acquired Panhypopituitarism, Septo-Optic Dysplasia Spectrum	X,G	92.88%	NA of NA
*SOX9*	46XX Ovotesticular Disorder Of Sex Development, 46XX Testicular Disorder Of Sex Development, 46XY Complete Gonadal Dysgenesis, 46XY Partial Gonadal Dysgenesis, Campomelic Dysplasia, Isolated Pierre Robin Syndrome	AD	97.28%	87 of 95
*SPATA16*	Spermatogenic Failure	AR	99.94%	1 of 2
*SPRY4*	Hypogonadotropic Hypogonadism With Or Without Anosmia, Kallmann Syndrome, Normosmic Congenital Hypogonadotropic Hypogonadism	AD,AR	99.72%	13 of 13
*SRY*	45X/ 46XY Mixed Gonadal Dysgenesis, 46XX Ovotesticular Disorder Of Sex Development, 46XX Testicular Disorder Of Sex Development, 46XY Complete Gonadal Dysgenesis, 46XY Partial Gonadal Dysgenesis, 46XX Sex Reversal, 46XY Sex Reversal	X,XD,Y,G	45%	NA of NA
*STAG3*	Premature Ovarian Failure	AR	98.88%	16 of 16
*SULT2A1*	Mixed Epithelial Stromal Tumor, Adrenal Cortical Adenoma, Polycystic Ovarian Syndrome, Adrenal Adenoma, Conn’s Syndrome	–	99.97%	NA of NA
*SUN5*	Male Infertility Due To Acephalic Spermatozoa, Spermatogenic Failure	AR	100%	14 of 14
*SYCE1*	Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation, Premature Ovarian Failure, Spermatogenic Failure	AR	100%	2 of 3
*SYCP3*	Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation, Spermatogenic Failure	AD	100%	5 of 5
*TAC3*	Hypogonadotropic Hypogonadism With Or Without Anosmia, Normosmic Congenital Hypogonadotropic Hypogonadism	AR	100%	10 of 10
*TACR3*	Hypogonadotropic Hypogonadism With Or Without Anosmia, Kallmann Syndrome, Normosmic Congenital Hypogonadotropic Hypogonadism	AR	99.97%	40 of 40
*TAF4B*	Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation, Spermatogenic Failure	AR	97.92%	0 of 1
*TEX11*	Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation, Spermatogenic Failure	X,XR,G	96.52%	NA of NA
*TEX15*	Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation, Spermatogenic Failure	AR	99.16%	6 of 7
*THADA*	Adenoma, Polycystic Ovary Syndrome	–	98.52%	NA of NA
*TLE6*	Preimplantation Embryonic Lethality	AR	100%	2 of 2
*TMEM67*	Bardet-Biedl Syndrome, Coach Syndrome, Joubert Syndrome, Meckel Syndrome, Nephronophthisis, Rhyns Syndrome	AR	96.93%	177 of 179
*TRIM32*	Bardet-Biedl Syndrome, Limb-Girdle Muscular Dystrophy, TRIM 32-related Limb-Girdle Muscular Dystrophy	AR	100%	17 of 17
*TTC21B*	Asphyxiating Thoracic Dystrophy, Jeune Syndrome, Nephronophthisis, Joubert Syndrome	AD,AR	100%	67 of 67
*TTC8*	Bardet-Biedl Syndrome, Retinitis Pigmentosa	AR	99.33%	28 of 28
*TUBB8*	Oocyte Maturation Defect	AD,AR	99.81%	47 of 47
*USP9Y*	Partial Chromosome Y Deletion, Y-linked Nonobstructive Spermatogenic Failure	Y,G	44.98%	NA of NA
*WDPCP*	Bardet-Biedl Syndrome, Congenital Heart Defects, Hamartomas Of Tongue And Polysyndactyly, Meckel Syndrome	AR	99.30%	8 of 8
*WDR11*	Hypogonadotropic Hypogonadism With Or Without Anosmia, Hypogonadotropic Hypogonadism Without Anosmia, Kallmann Syndrome, Normosmic Congenital Hypogonadotropic Hypogonadism, Pituitary Stalk Interruption Syndrome	AD,AR	100%	19 of 19
*WNT4*	46XX Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs, Mullerian Aplasia And Hyperandrogenism, Serkal Syndrome	AD,AR	100%	8 of 8
*ZMYND15*	Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation, Spermatogenic Failure	AR	99.87%	1 of 1
*ZP1*	Oocyte Maturation Defect	AR	100%	17 of 17
*ZPBP*	Spermatogenic Failure		99.98%	4 of 4

* Inheritance: AD: Autosomal Dominant; AR: Autosomal Recessive; X: X linked; XLR: X linked Recessive; Mi: Mitochondrial; Mu: Multifactorial; G: Gonosomal Inheritance; D: Digenic Inheritance

** HGMD: Number of clinically relevant mutations according to HGMD

Overview

Indication

Clinical Utility

Genes & Diseases

Methodology

References

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