Panel de precisión para displasias esqueléticas

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