Infertility – 166 genes
Infertility is defined as the failure to conceive, regardless of the cause, after 1 year of unprotected intercourse.

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