Genomics Precision Diagnostic > Skeletal > Skeletal Dysplasias

Skeletal Dysplasias – 177 genes

Skeletal Dysplasias, also known as osteochondrodysplasias, are a clinically and phenotypically heterogeneous group of more than 450 inherited disorders characterized by abnormalities mainly of cartilage and bone growth although they can also affect muscle, tendons and ligaments, resulting in abnormal shape and size of the skeleton and disproportion of long bones, spine and head.

Overview

Indication

Clinical Utility

Genes & Diseases

Methodology

References

Overview

Skeletal Dysplasias, also known as osteochondrodysplasias, are a clinically and phenotypically heterogeneous group of more than 450 inherited disorders characterized by abnormalities mainly of cartilage and bone growth although they can also affect muscle, tendons and ligaments, resulting in abnormal shape and size of the skeleton and disproportion of long bones, spine and head.
They differ in natural histories, prognoses, inheritance patterns and physiopathologic mechanisms. They range in severity from those that are embryonically lethal to those with minimum morbidity. Approximately 5% of children with congenital birth defects have skeletal dysplasias. Until recently, the diagnosis of skeletal dysplasia relied almost exclusively on careful phenotyping, however, the advent of genomic tests has the potential to make a more accurate and definite diagnosis based on the suspected clinical diagnosis. The 4 most common skeletal dysplasias are thanatophoric dysplasia, achondroplasia, osteogenesis imperfecta and achondrogenesis. The inheritance pattern of skeletal dysplasias is variable and includes autosomal dominant, recessive and X-linked.
The Igenomix Skeletal Dysplasias Precision Panel can be used to make a directed and accurate differential diagnosis of skeletal abnormalities ultimately leading to a better management and prognosis of the disease. 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 Skeletal Dysplasias Precision Panel is indicated for those patients with a suspected clinical diagnosis of skeletal dysplasia presenting with the following manifestations:

Family history of skeletal dysplasia
Multiple spontaneous abortions or stillbirths in a family
Maternal hydramnios (excess amniotic fluid during pregnancy)
Fetal hydrops (fetal generalized edema)
Disproportionate short stature
Intellectual disability
Disproportionately large head
Other associated manifestations:
- Ocular: Cataracts, myopia
- Oral cavity: Bifid uvula, cleft palate
- Central Nervous System (CNS): intracranial pathologic processes, neurologic impairment
- Skin: redundant skin folds, acanthosis nigricans
- Polydactyly
- Nails: Hypoplastic nails
- Joints: Multiple join dislocations
- Long bone fractures
- Heart: atrial septal defect, patent ductus arteriosus, transposition of great vessels

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, encompassing physical rehabilitation and surgical procedures, management of hearing and dental abnormalities, as well as drugs, such as vitamin D or gamma interferon.
Prenatal detection of osteopetrosis for a directed obstetric and perinatal treatment of affected infants.
Combining phenotypic and genotypic data to improve diagnostic rate of these patients in the target population as well as identification of mutations associated with unique disease complications.
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**
*ABCC9*	Acromegaloid Facial Appearance Syndrome, Familial Atrial Fibrillation, Familial, Brugada Syndrome, Dilated Cardiomyopathy, Hypertrichosis-Acromegaloid Facial Appearance Syndrome, Hypertrichotic Osteochondrodysplasia,	AD	100%	51 of 51
*ACAN*	Osteochondritis Dissecans, Short Stature And Early-onset Osteoarthritis, Spondyloepimetaphyseal Dysplasia Aggrecan Type, Spondyloepiphyseal Dysplasia Kimberley Type	AD,AR	86.19%	63 of 65
*ACP5*	Combined Immunodeficiency With Autoimmunity And Spondylometaphyseal Dysplasia, Spondyloenchondrodysplasia	AR	100%	27 of 28
*ACTB*	Baraitser-Winter Cerebrofrontofacial Syndrome, Baraitser-Winter Syndrome, Becker Nevus Syndrome, Developmental Malformations-Deafness-Dystonia Syndrome	AD	100%	40 of 40
*ACTG1*	Baraitser-Winter Cerebrofrontofacial Syndrome, Autosomal Dominant Deafness	AD	98.59%	55 of 55
*AFF4*	Chops Syndrome, Cognitive Impairment-Coarse Facies-Heart Defects, Obesity-Pulmonary Involvement, Short Stature-Skeletal Dysplasia Syndrome	AD	99.42%	6 of 6
*AIFM1*	Combined Oxidative Phosphorylation Deficiency, Cowchock Syndrome, X-linked Cowck Deafness, Leukoencephalopathy-Spondylometaphyseal Dysplasia Syndrome, Severe X-linked Mitochondrial Encephalomyopathy, Spondyloepimetaphyseal Dysplasia, X-linked Charcot-Marie-Tooth Disease Type 4	X,XR,G	100%	NA of NA
*AKT1*	Breast Cancer, Colorectal Cancer, Cowden Syndrome, Meningioma, Proteus Syndrome	AD	100%	6 of 6
*ALDH3A2*	Sjogren-Larsson Syndrome	AR	96%	119 of 119
*ALG9*	ALG9-CDG Congenital Disorder Of Glycosylation Type II, Polycystic Kidney Disease Potter Type I	AR	99.99%	6 of 6
*ANAPC1*	Rothmund-Thomson Syndrome Type 1	AR	86.31%	3 of 4
*ANKH*	Chondrocalcinosis, Craniometaphyseal Dysplasia, Autosomal Dominant Familial Calcium Pyrophosphate Deposition	AD	100%	19 of 19
*ANOS1*	Hypogonadotropic Hypogonadism With Or Without Anosmia, Kallmann Syndrome, Normosmic Congenital Hypogonadotropic Hypogonadism	X,XR,G	96.86%	NA of NA
*ARSB*	Mucopolysaccharidosis Type VI	AR	99.83%	217 of 220
*B3GALT6*	Ehlers-Danlos Syndrome Progeroid Type 2, Spondyloepimetaphyseal Dysplasia With Joint Laxity	AR	65.09%	24 of 39
*B4GALT7*	B4GALT7-Related Spondylodysplastic Ehlers-Danlos Syndrome	AR	99.92%	11 of 11
*BGN*	Meester-Loeys Syndrome, X-linked Spondyloepimetaphyseal Dysplasia	X,XR,G	99.87%	NA of NA
*BMPR1B*	Acromesomelic Dysplasia Grebe Type, Brachydactyly Type A1, A2, C, D, Aplasia-Complex Brachydactyly Syndrome	AD,AR	100%	33 of 34
*CANT1*	Desbuquois Dysplasia, Desbuquois Syndrome, Multiple Epiphyseal Dysplasia	AR	99.98%	29 of 30
*CCDC141*	Hypogonadotropic Hypogonadism Without Anosmia, Kallmann Syndrome	AR	99.70%	1 of 1
*CDH3*	Eem Syndrome, Hypotrichosis With Juvenile Macular Degeneration, Congenital Hypotrichosis With Juvenile Macular Dystrophy	AR	95%	34 of 36
*CDKN1C*	Beckwith-Wiedemann Syndrome, IMAGE Syndrome, Intrauterine Growth Restriction-Short Stature-Early Adult-Onset Diabetes Syndrome, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies	AD	73.58%	55 of 76
*CEP120*	Jeune Syndrome, Joubert Syndrome, Short-Rib Thoracic Dysplasia With Or Without Polydactyly	AR	99.80%	9 of 9
*CFAP410*	Amyotrophic Lateral Sclerosis, Cone Rod Dystrophy, Retinal Dystrophy With Or Without Macular Staphyloma, Axial Spondylometaphyseal Dysplasia	AR	na	na
*CHD7*	CHARGE Syndrome, Hypogonadotropic Hypogonadism With Or Without Anosmia, Kallmann Syndrome, Normosmic Congenital Hypogonadotropic Hypogonadism, Omenn Syndrome	AD	96.25%	823 of 896
*CHST3*	CHST3-Related Skeletal Dysplasia, Multiple Joint Dislocations, Short Stature, Craniofacial Dysmorphism With Or Without Congenital Heart Defects, Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	AR	99.97%	38 of 38
*COL10A1*	Metaphyseal Chondrodysplasia Schmid Type	AD	96.18%	55 of 55
*COL11A1*	Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss, Rhizomelic Dysplasia Syndrome, Autosomal Recessive Stickler Syndrome, Autosomal Dominant Deafness, Fibrochondrogenesis, Marshall Syndrome, Stickler Syndrome Type 2	AD,AR	100%	104 of 106
*COL11A2*	Autosomal Dominant Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant Deafness, Fibrochondrogenesis, Stickler Syndrome Type 3	AD,AR	99.98%	58 of 58
*COL1A1*	Arthrochalasia, Ehlers-Danlos Syndrome, Caffey Disease, Dermatofibrosarcoma Protuberans, Ehlers-Danlos Syndrome Type 7, Osteogenesis Imperfecta Type I, IIa, III, IV, Osteoporosis	AD	99.98%	1156 of 1159
*COL1A2*	Arthrochalasia Ehlers-Danlos Syndrome, Cardiac-Valvular Ehlers-Danlos Syndrome, Osteogenesis Imperfecta, Type IIa, III, IV, Osteoporosis	AD,AR	100%	576 of 581
*COL2A1*	Achondrogenesis Type 2, Autosomal Dominant Otospondylomegaepiphyseal Dysplasia, Avascular Necrosis Of Femoral Head, Primary Czech Dysplasia Metatarsal Type, Dysspondyloenchondromatosis, Epiphyseal Dysplasia Multiple With Myopia And Conductive Deafness, Familial Avascular Necrosis Of Femoral Head, Kniest Dysplasia, Legg-Calve-Perthes Disease, Multiple Epiphyseal Dysplasia Beighton Type, Osteoarthritis With Mild Chondrodysplasia, Platyspondylic Dysplasia Torrance Type, Spondyloepimetaphyseal Dysplasia Congenita Strudwick Type, Stanescu Type, Spondylometaphyseal Dysplasia ‘Corner Fracture’ Type, Spondyloperipheral Dysplasia, Short Ulna Syndrome, Stickler Syndrome Type 1	AD,MU	100%	583 of 583
*COL3A1*	Acrogeria, Ehlers-Danlos Syndrome Type IV, Autosomal Dominant Familial Cerebral Saccular Aneurysm, Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome, Vascular Ehlers-Danlos Syndrome	AD,AR	100%	676 of 676
*COL9A1*	Autosomal Recessive Stickler Syndrome, Multiple Epiphyseal Dysplasia, Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly, Stickler Syndrome Type IV	AD,AR	99.98%	8 of 8
*COL9A2*	Autosomal Recessive Stickler Syndrome, Multiple Epiphyseal Dysplasia, Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly, Stickler Syndrome, Type V	AD,AR	100%	16 of 16
*COL9A3*	Autosomal Recessive Stickler Syndrome, Multiple Epiphyseal Dysplasia, Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly	AD	99.98%	20 of 20
*COMP*	Multiple Epiphyseal Dysplasia, Multiple Epiphyseal Dysplasia Type 1, Pseudoachondroplasia	AD	99.71%	189 of 189
*CTSA*	Galactosialidosis, Neuraminidase Deficiency With Beta-Galactosidase Deficiency	AR	100%	40 of 40
*CTSK*	Pycnodysostosis	AR	99.97%	59 of 59
*CWC27*	Retinitis Pigmentosa With Or Without Skeletal Anomalies	AR	99.77%	8 of 8
*DCC*	Colorectal Cancer, Esophageal Cancer, Familial Congenital Mirror Movements, Familial Horizontal Gaze Palsy With Progressive Scoliosis And Impaired Intellectual Development, Kallmann Syndrome	AD,AR	94%	39 of 39
*DCHS1*	Cerebrofacioarticular Syndrome, Mitral Valve Prolapse, Van Maldergem Syndrome	AD,AR	99.69%	30 of 30
*DDR2*	Spondylometaepiphyseal Dysplasia, Short Limb-hand Type, Warburg-Cinotti Syndrome	AD,AR	100%	13 of 13
*DDRGK1*	Spondyloepimetaphyseal Dysplasia, Shohat Type	AR	99.94%	1 of 1
*DMP1*	Autosomal Recessive Hypophosphatemic Rickets	AR	99.89%	11 of 11
*DNAJC21*	Bone Marrow Failure Syndrome, Shwachman-Diamond Syndrome	AR	99.83%	12 of 12
*DUSP6*	Hypogonadotropic Hypogonadism With Or Without Anosmia, Kallmann Syndrome, Normosmic Congenital Hypogonadotropic Hypogonadism	AD,AR	99.36%	4 of 4
*DYM*	Dyggve-Melchior-Clausen Disease, Smith-Mccort Dysplasia	AR	90%	37 of 37
*DYNC2H1*	Jeune Syndrome, Short Rib-Polydactyly Syndrome Verma-Naumoff Type, Short-Rib Thoracic Dysplasia With Or Without Polydactyly	AR,MU,D	99.78%	214 of 221
*DYNC2I1*	Jeune Syndrome, Short Rib-Polydactyly Syndrome Verma-Naumoff Type, Short-Rib Thoracic Dysplasia With Or Without Polydactyly	AR	97.76%	14 of 14
*DYNC2I2*	Jeune Syndrome, Short Rib-Polydactyly Syndrome, Verma-Naumoff Type, Short-Rib Thoracic Dysplasia With Or Without Polydactyly	AR	99.54%	23 of 23
*DYNC2LI1*	Ellis Van Creveld Syndrome, Jeune Syndrome, Short-Rib Thoracic Dysplasia With Polydactyly	AR	91.58%	16 of 16
*EIF2AK3*	Multiple Epiphyseal Dysplasia With Early-Onset Diabetes Mellitus, Wolcott-Rallison Syndrome	AR	99.30%	89 of 89
*ENPP1*	Generalized Arterial Calcification Of Infancy, Autosomal Recessive Hypophosphatemic Rickets, Cole Disease, Noninsulin-Dependent Diabetes Mellitus, Obesity, Pseudoxanthoma Elasticum	AD,AR,MU,P	96.59%	73 of 75
*ERF*	Chitayat Syndrome, Crouzon Disease, Familial Lambdoid Synostosis, Isolated Cloverleaf Skull Syndrome	AD	99.73%	31 of 31
*EXOC6B*	Spondyloepimetaphyseal Dysplasia With Joint Laxity, Spondyloepimetaphyseal Dysplasia With Joint Laxity Type 3	AR	99.99%	2 of 3
*EXTL3*	Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities, Skeletal Dysplasia-T-Cell Immunodeficiency Developmental Delay Syndrome	AR	99.99%	10 of 10
*FAM111A*	Autosomal Dominant Kenny-Caffey Syndrome, Gracile Bone Dysplasia	AD	99.47%	9 of 10
*FAT4*	Cerebrofacioarticular Syndrome, Hennekam Lymphangiectasia-Lymphedema Syndrome, Van Maldergem Syndrome	AR	99.80%	41 of 41
*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, Hypogonadotropic Hypogonadism With Or Without Anosmia, 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, Semilobar Holoprosencephaly, Septo-Optic Dysplasia Spectrum, Nonsyndromic Trigonocephaly	AD	100%	279 of 280
*FGFR3*	Severe Achondroplasia With Developmental Delay And Acanthosis Nigricans, Bladder Cancer, Camptodactyly-Tall Stature-Scoliosis-Hearing Loss Syndrome, Cervical Cancer, Colorectal Cancer, Crouzon Syndrome With Acanthosis Nigricans, Epidermal Nevus, Hypochondroplasia, Isolated Brachycephaly, Isolated Plagiocephaly, Lacrimoauriculodentodigital Syndrome, Muenke Syndrome, Saethre-Chotzen Syndrome, Severe Achondroplasia-Developmental Delay-Acanthosis Nigricans Syndrome, Testicular Tumor, Thanatophoric Dysplasia Type 1 And 2	AD,AR	99.89%	77 of 78
*FLNA*	X-linked Cardiac Valvular Dysplasia, Congenital Short Bowel Syndrome, Frontometaphyseal Dysplasia, X-linked Dominant Periventricular Heterotopia, Neuronal Intestinal Pseudoobstruction, Melnick-Needles Syndrome, Otopalatodigital Syndrome Type 1, 2, Periventricular Nodular Heterotopia, Terminal Osseous Dysplasia, X-linked Ehlers-Danlos Syndrome	X,XR,XD,G	100%	NA of NA
*FLNB*	Atelosteogenesis Type I and Type III, Boomerang Dysplasia, Larsen Syndrome, Spondylocarpotarsal Synostosis Syndrome	AD,AR	100%	124 of 124
*FLRT3*	Hypogonadotropic Hypogonadism With Or Without Anosmia, Kallmann Syndrome	AD	99.98%	7 of 7
*FN1*	Fibronectin Glomerulopathy, Spondylometaphyseal Dysplasia ‘Corner Fracture’ Type	AD	100%	34 of 34
*GDF5*	Acromesomelic Dysplasia Grebe Type, Hunter-Thompson Type, Angel-Shaped Phalango-Epiphyseal Dysplasia, Brachydactyly Type A1, Type A2, Type C, Chondrodysplasia Grebe Type, Fibular Aplasia-Complex Brachydactyly Syndrome, Multiple Synostoses Syndrome, Proximal Symphalangism	AD,AR	99.48%	48 of 51
*GJA1*	Alopecia Congenita With Keratosis Palmoplantaris, Atrioventricular Septal Defect, Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia, Craniometaphyseal Dysplasia, Erythrokeratodermia Variabilis,,hypoplastic Left Heart Syndrome, Hypoplastic Left Heart Syndrome, Oculodentodigital Dysplasia, Syndactyly Type 3	AD,AR,MU,O	100%	119 of 119
*GLI3*	Acrocallosal Syndrome, Greig Cephalopolysyndactyly Syndrome, Congenital Hypothalamic Hamartoma Syndrome, Pallister-hall Syndrome, Postaxial Polydactyly, Preaxial Polydactyly, Tibial Hemimelia	AD,AR	100%	231 of 231
*GNAS*	ACTH-Independent Macronodular Adrenal Hyperplasia, Albright Hereditary Osteodystrophy, Cushing Syndrome Due To Macronodular Adrenal Hyperplasia, Mazabraud Syndrome, McCune-Albright Syndrome, Progressive Osseous, Pseudohypoparathyroidism Type 1A, 1B, 1C Type 1c	AD	99.95%	263 of 273
*GPX4*	Spondylometaphyseal Dysplasia Sedaghatian Type	AR	79.72%	3 of 3
*HBB*	Alpha-Thalassemia, Beta-thalassemia, Heinz Body Anemias, Hemoglobin C-Beta-Thalassemia Syndrome, Hemoglobin E-beta-thalassemia Syndrome, Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome, Sickle Cell Anemia	AD,AR	100%	753 of 789
*HDAC6*	Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly and Microphthalmia, X-linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	X,XD,G	100%	NA of NA
*HESX1*	Combined Pituitary Hormone Deficiencies, Genetic Forms, Hypothyroidism, Kallmann Syndrome, Pituitary Stalk Interruption Syndrome, Septo-Optic Dysplasia Spectrum	AD,AR	100%	26 of 26
*HS6ST1*	Hypogonadotropic Hypogonadism With Or Without Anosmia, Kallmann Syndrome, Normosmic Congenital Hypogonadotropic Hypogonadism	AD	99.97%	8 of 8
*HSPA9*	Autosomal Dominant Sideroblastic Anemia, Even-Plus Syndrome	AD,AR	99.72%	14 of 14
*HSPG2*	Dyssegmental Dysplasia Silverman-Handmaker Type, Schwartz-jJmpel Syndrome	AR	99.41%	68 of 69
*IARS2*	Cataract-Growth Hormone Deficiency-Sensory Neuropathy-Sensorineural Hearing Loss-Skeletal Dysplasia Syndrome	AR	99.95%	11 of 11
*IDUA*	Hurler Syndrome, Hurler-Scheie Syndrome, Scheie Syndrome	AR	99.73%	287 of 292
*IFT140*	Jeune Syndrome, Leber Congenital Amaurosis, Retinitis Pigmentosa, Short-Rib Thoracic Dysplasia With Or Without Polydactyly	AR	99.97%	81 of 81
*IFT172*	Bardet-Biedl Syndrome, Jeune Syndrome, Retinitis Pigmentosa, Short-Rib Thoracic Dysplasia With Or Without Polydactyly	AR	100%	37 of 37
*IFT80*	Asphyxiating Thoracic Dystrophy, Jeune Syndrome, Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	AR	99.96%	16 of 16
*IHH*	Acrocapitofemoral Dysplasia, Brachydactyly Type A1	AD,AR	99.39%	28 of 29
*IL17RD*	Hypogonadotropic Hypogonadism With Or Without Anosmia, Kallmann Syndrome	AD,AR	99.95%	17 of 17
*KCNJ8*	Brugada Syndrome, Hypertrichotic Osteochondrodysplasia, Cantu Type		100%	8 of 8
*KIF22*	Spondyloepimetaphyseal Dysplasia With Multiple Dislocations	AD	100%	4 of 4
*KIF7*	Acrocallosal Syndrome, Hydrolethalus Syndrome, Macrocephaly With Multiple Epiphyseal Dysplasia And Distinctive Facies, Orofaciodigital Syndrome Type 6	AR	94.91%	47 of 50
*KISS1R*	Hypogonadotropic Hypogonadism With Or Without Anosmia, Kallmann Syndrome, Normosmic Congenital Hypogonadotropic Hypogonadism, Central Precocious Puberty	AD,AR	99.41%	42 of 43
*KRAS*	Aplasia Cutis Congenita With Epibulbar Dermoids, Arteriovenous Malformation Of The Brain, Somatic,bladder Cancer, Breast Cancer, Cardiofaciocutaneous Syndrome, Encephalocraniocutaneous Lipomatosis, Familial Pancreatic Carcinoma, Gastric Cancer, Acute Myeloid Leukemia, Linear Nevus Sebaceus Syndrome, Lung Cancer, Lynch Syndrome, Noonan Syndrome, Pancreatic Cancer, RAS-associated Autoimmune Lymphoproliferative Syndrome Type IV, Schimmelpenning-Feuerstein-Mims Syndrome, Toriello-Lacassie-Droste Syndrome	AD	100%	38 of 38
*LBR*	Greenberg Dysplasia, Hydrops-Ectopic Calcification-Moth-Eaten Skeletal Dysplasia, Pelger-Huet Anomaly, Reynolds Syndrome	AD,AR	99.98%	34 of 34
*LEMD3*	12q14 Microdeletion Syndrome, Buschke-Ollendorff Syndrome, Isolated Osteopoikilosis, Melorheostosis With Osteopoikilosis	AD	99.06%	30 of 33
*LIFR*	Stuve-Wiedemann Syndrome	AR	99.81%	33 of 33
*LMX1B*	9q33.3q34.11 Microdeletion Syndrome, Nail-Patella Syndrome, Nail-Patella-Like Renal Disease	AD	100%	191 of 191
*LONP1*	Codas Syndrome	AR	99.84%	21 of 21
*LOXL3*	Autosomal Recessive Stickler Syndrome		99.97%	7 of 7
*LTBP3*	Acromicric Dysplasia, Geleophysic Dysplasia, Platyspondyly With Amelogenesis Imperfecta	AD,AR	97.67%	22 of 23
*MAB21L2*	Syndromic Microphthalmia	AD,AR	99.97%	8 of 8
*MATN3*	Multiple Epiphyseal Dysplasia, Osteoarthritis Of Distal Interphalangeal Joints, Spondyloepimetaphyseal Dysplasia, Matrilin-3 Related	AD,AR	86.16%	24 of 25
*MBTPS1*	Spondyloepiphyseal Dysplasia, Kondo-Fu Type	AR	99.99%	5 of 5
*MMP13*	Metaphyseal Anadysplasia, Metaphyseal Chondrodysplasia, Spahr Type, Spondyloepimetaphyseal Dysplasia, Missouri Type, Spondyloepimetaphyseal Dysplasia Type II	AD,AR	100%	10 of 10
*MYSM1*	Bone Marrow Failure Syndrome, Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	AR	98.50%	4 of 4
*NANS*	Spondyloepimetaphyseal Dysplasia, Genevieve Type	AR	99.97%	12 of 12
*NEU1*	Congenital Sialidosis Type 2, Juvenile Sialidosis Type 2, Neuraminidase Deficiency, Sialidosis Type 1	AR	100%	68 of 68
*NKX3-2*	Spondylo-Megaepiphyseal-Metaphyseal Dysplasia	AR	99.02%	5 of 5
*NLRC4*	Autoinflammation With Infantile Enterocolitis, Familial Cold Autoinflammatory Syndrome	AD	99.54%	15 of 15
*NLRP3*	Cinca Syndrome, Autosomal Dominant Deafness, Familial Cold Inflammatory Syndrome, Familial Cold Urticaria, Keratoendotheliitis Fugax Hereditaria, Muckle-Wells Syndrome	AD	100%	152 of 152
*NOTCH2*	Acroosteolysis Dominant Type, Acroosteolysis With Osteoporosis And Changes In Skull And Mandible, Alagille Syndrome	AD	99.88%	91 of 91
*NPR2*	Acromesomelic Dysplasia, Maroteaux Type, Epiphyseal Chondrodysplasia, Miura Type, Short Stature With Nonspecific Skeletal Abnormalities	AD,AR	100%	81 of 81
*NSMF*	Hypogonadotropic Hypogonadism With Or Without Anosmia, Kallmann Syndrome, Normosmic Congenital Hypogonadotropic Hypogonadism	AD	99.69%	11 of 11
*P4HB*	Cole-Carpenter Syndrome	AD	94.97%	13 of 13
*PAM16*	Chondrodysplasia, Megarbane-Dagher-Melki Type	AR	41%	2 of 2
*PAPSS2*	Spondyloepimetaphyseal Dysplasia, Pakistani Type	AR	99.97%	27 of 27
*PCYT1A*	Leber Congenital Amaurosis, Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy Syndrome	AR	99.98%	22 of 22
*PEX1*	Deafness-Enamel Hypoplasia-Nail Defects Syndrome, Sensorineural Hearing Loss With Enamel Hypoplasia And Nail Defects, Infantile Refsum Disease, Neonatal Adrenoleukodystrophy, Peroxisome Biogenesis Disorder, Zellweger Syndrome	AR	97.02%	126 of 134
*PEX10*	Autosomal Recessive Ataxia Due To PEX10 Deficiency, Infantile Refsum Disease, Neonatal Adrenoleukodystrophy, Peroxisome Biogenesis Disorder 6A, Zellweger Syndrome	AR	99.76%	29 of 32
*PEX11B*	Infantile Refsum Disease, Neonatal Adrenoleukodystrophy, Peroxisome Biogenesis Disorder, Zellweger Syndrome	AR	90.29%	7 of 7
*PEX12*	Infantile Refsum Disease, Neonatal Adrenoleukodystrophy, Peroxisome Biogenesis Disorder 3A (Zellweger), Refsum Disease Infantile Form, Zellweger Syndrome	AR	100%	38 of 38
*PEX13*	Infantile Refsum Disease, Neonatal Adrenoleukodystrophy, Peroxisome Biogenesis Disorder 11A (Zellwege), Peroxisome Biogenesis Disorder 11B, Zellweger Syndrome	AR	99.98%	11 of 12
*PEX14*	Infantile Refsum Disease, Neonatal Adrenoleukodystrophy, Peroxisome Biogenesis Disorder 13A (Zellweger), Zellweger Syndrome	AR	100%	4 of 4
*PEX16*	Infantile Refsum Disease, Neonatal Adrenoleukodystrophy, Peroxisome Biogenesis Disorder 8A (Zellweger), 8B, Zellweger Syndrome	AR	100%	17 of 17
*PEX19*	Infantile Refsum Disease, Neonatal Adrenoleukodystrophy, Peroxisome Biogenesis Disorder 12A (Zellweger), Zellweger Syndrome	AR	100%	5 of 5
*PEX2*	Infantile Refsum Disease, Neonatal Adrenoleukodystrophy, Peroxisome Biogenesis Disorder 5A (Zellweger), 5B, Zellweger Syndrome	AR	99.89%	17 of 17
*PEX26*	Infantile Refsum Disease, Neonatal Adrenoleukodystrophy, Peroxisome Biogenesis Disorder 7A (Zellweger), 7B, Zellweger Syndrome	AR	100%	29 of 29
*PEX3*	Infantile Refsum Disease, Neonatal Adrenoleukodystrophy, Peroxisome Biogenesis Disorder 10A (Zellweger), 10B, Zellweger Syndrome	AR	100%	9 of 9
*PEX5*	Adrenoleukodystrophy, Cerebrohepatorenal Syndrome, Variant Types, Infantile Refsum Disease, Neonatal Adrenoleukodystrophy, Rhizomelic Chondrodysplasia Punctata Type 5, Zellweger Syndrome	AR	100%	12 of 12
*PEX6*	Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome, Deafness-Enamel Hypoplasia-Nail Defects Syndrome, Heimler Syndrome, Infantile Refsum Disease, Neonatal Adrenoleukodystrophy, Peroxisome Biogenesis Disorder 4A (Zellweger), 4B, Zellweger Syndrome	AD,AR	99.94%	105 of 108
*PEX7*	Peroxisome Biogenesis Disorder 9B, Refsum Disease, Rhizomelic Chondrodysplasia Punctata Type 1	AR	99.21%	47 of 53
*PHYH*	Refsum Disease	AR	100%	34 of 34
*POLE*	Colorectal Cancer, Facial Dysmorphism, Immunodeficiency, Livedo And Short Stature, IMAGE Syndrome, Intrauterine Growth Retardation, Metaphyseal Dysplasia Adrenal Hypoplasia Congenita Genital Anomalies And Immunodeficiency, Polymerase Proofreading-Related Adenomatous Polyposis	AD,AR	100%	100 of 100
*POLR1C*	Hypomyelination-Hypogonadotropic Hypogonadism-Hypodontia Syndrome, Hypomyelinating Leukodystrophy, Mandibulofacial Dysostosis, Autosomal Recessive Treacher Collins Type	AR	99.99%	35 of 35
*POLR1D*	Treacher Collins Syndrome	AD,AR	100%	23 of 23
*POP1*	Anauxetic Dysplasia	AR	99.88%	6 of 6
*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
*PTEN*	Bannayan-Riley-Ruvalcaba Syndrome, Cowden Disease, Hereditary Breast And Ovarian Cancer Syndrome, Juvenile Polyposis Of Infancy, Lhermitte-Duclos Disease, Macrocephaly/Autism Syndrome, Familia Meningioma, Prostate Cancer, Proteus Syndrome, Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome	AD	99.97%	609 of 629
*PTH1R*	Blomstrand Lethal Chondrodysplasia, Dental Noneruption, Eiken Skeletal Dysplasia, Metaphyseal Chondrodysplasia, Jansen Type, Ollier Disease	AD,AR	100%	48 of 48
*RECQL4*	Baller-Gerold Syndrome, Rapadilino Syndrome, Rothmund-Thomson Syndrome	AR	96.72%	134 of 135
*RMRP*	Anauxetic Dysplasia, Cartilage-Hair Hypoplasia, Metaphyseal Dysplasia Without Hypotrichosis, Omenn Syndrome	AR	na	na
*RNU4ATAC*	Lowry-Wood Syndrome, Microcephalic Osteodysplastic Primordial Dwarfism Types I And III, Microcephalic Osteodysplastic Primordial Dwarfism Type I, Roifman Syndrome	AR	na	na
*RPL10*	X-linked Mental Retardation, X-linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome, X-linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome	X,XR,G	100%	NA of NA
*RSPRY1*	Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome, Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type	AR	99.98%	4 of 4
*RUNX2*	Cleidocranial Dysplasia, Metaphyseal Dysplasia With Maxillary Hypoplasia And Brachydactyly	AD	73.67%	189 of 190
*SBDS*	Aplastic Anemia, Idiopathic Aplastic Anemia, Shwachman-Diamond Syndrome	AR	100%	77 of 79
*SEC23A*	Craniolenticulosutural Dysplasia	AR	100%	4 of 4
*SEC24D*	Cole-Carpenter Syndrome	AR	99.97%	14 of 14
*SEMA3A*	Brugada Syndrome, Hypogonadotropic Hypogonadism With Or Without Anosmia, Kallmann Syndrome	AD	100%	29 of 29
*SF3B4*	Acrofacial Dysostosis, Nager Type, Rodriguez Type, Nager Syndrome	AD	94.86%	33 of 40
*SFRP4*	Pyle Disease	AR	99.95%	5 of 5
*SLC10A7*	Short Stature, Amelogenesis Imperfecta And Skeletal Dysplasia With Scoliosis	AR	99.99%	8 of 8
*SLC26A2*	Achondrogenesis Type 1B, Atelosteogenesis Type II, Diastrophic Dwarfism, Diastrophic Dysplasia, Multiple Epiphyseal Dysplasia Type 4	AR	99.59%	51 of 56
*SLC39A13*	Ehlers-Danlos Syndrome Spondylodysplastic Type	AR	100%	9 of 9
*SMARCAL1*	Immunoosseous Dysplasia, Schimke Type	AR	99.94%	93 of 93
*SOX10*	Kallmann Syndrome, Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease, Waardenburg-Shah Syndrome	AD	99.74%	139 of 147
*SPRY4*	Hypogonadotropic Hypogonadism With Or Without Anosmia, Kallmann Syndrome, Normosmic Congenital Hypogonadotropic Hypogonadism	AD,AR	99.72%	13 of 13
*SRP54*	Autosomal Dominant Severe Congenital Neutropenia, Shwachman-Diamond Syndrome	AD,AR	99.95%	8 of 8
*STAC3*	Native American Myopathy	AR	99.98%	5 of 5
*TACR3*	Hypogonadotropic Hypogonadism With Or Without Anosmia, Kallmann Syndrome, Normosmic Congenital Hypogonadotropic Hypogonadism	AR	99.97%	40 of 40
*TBXAS1*	Ghosal Hematodiaphyseal Dysplasia	AR	100%	6 of 6
*TCOF1*	Treacher Collins-Franceschetti Syndrome	AD	100%	326 of 327
*TGFB1*	Camurati-Engelmann Disease, Cystic Fibrosis, Inflammatory Bowel Disease, Immunodeficiency And Encephalopathy	AD,AR	99.75%	24 of 24
*TMEM165*	Congenital Disorder Of Glycosylation Type IIk	AR	93.69%	4 of 5
*TMEM67*	Bardet-Biedl Syndrome, Coach Syndrome, Joubert Syndrome, Joubert Syndrome With Hepatic Defect, Meckel Syndrome Type 3, Nephronophthisis, Rhyns Syndrome	AR	96.93%	177 of 179
*TONSL*	Sponastrime Dysplasia, Spondyloepimetaphyseal Dysplasia	AR	98.76%	36 of 40
*TRAPPC2*	X-linked Spondyloepiphyseal Dysplasia Tarda	X,XR,G	99.58%	NA of NA
*TREM2*	Amyotrophic Lateral Sclerosis, Behavioral Variant Of Frontotemporal Dementia, Early-Onset Autosomal Dominant Alzheimer Disease, Nasu-Hakola Disease, Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy, Progressive Non-fluent Aphasia, Semantic Dementia	AD	100%	55 of 55
*TRIP11*	Achondrogenesis Type 1A, Odontochondrodysplasia	AR	98.94%	20 of 21
*TRPV4*	Autosomal Dominant Brachyolmia Autosomal Dominant Congenital Benign Spinal Muscular Atrophy, Primary Avascular Necrosis Of Femoral Head, Brachyrachia, Familial Digital Arthropathy-Brachydactyly, Hereditary Motor And Sensory Neuropathy Type IIC, Nonlethal Dominant Metatropic Dysplasia, Parastremmatic Dwarfism, Scapuloperoneal Spinal Muscular Atrophy, Spondyloepiphyseal Dysplasia, Maroteaux Type, Spondylometaphyseal Dysplasia, Kozlowski Type	AD	100%	88 of 88
*TTC21B*	Asphyxiating Thoracic Dystrophy, Jeune Syndrome, Nephronophthisis, Joubert Syndrome	AD,AR	100%	67 of 67
*TYROBP*	Nasu-Hakola Disease, Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy	AR	100%	12 of 13
*UFSP2*	Hip Dysplasia, Beukes Type, Spondyloepimetaphyseal Dysplasia, Di Rocco Type	AD	99.83%	3 of 3
*VPS33A*	Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	AR	97.86%	1 of 1
*WDR11*	Hypogonadotropic Hypogonadism With Or Without Anosmia, Kallmann Syndrome, Normosmic Congenital Hypogonadotropic Hypogonadism, Pituitary Stalk Interruption Syndrome	AD,AR	100%	19 of 19
*WDR19*	Asphyxiating Thoracic Dystrophy, Cranioectodermal Dysplasia, Jeune Syndrome, Nephronophthisis, Senior-Loken Syndrome,	AR	99.96%	47 of 49
*WDR35*	Cranioectodermal Dysplasia, Short Rib-Polydactyly Syndrome, Verma-Naumoff Type, Short-Rib Thoracic Dysplasia With Or Without Polydactyly	AR	100%	31 of 33
*XYLT1*	Desbuquois Dysplasia, Desbuquois Syndrome, Pseudoxanthoma Elasticum	AR	92.61%	19 of 23

* Herança: AD: Autossômico Dominante; AR: Recessivo autossômico; X: X vinculado; XLR: Recessivo vinculado a X; Mi: Mitocondrial; Mu: Multifatorial; G: Herança gonossômica; D: Herança Digenic

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