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Enfermedades extras 1, 2, 3 Rasgos Gene Symbol Gene Name OMIA Number Trait TYRP1 tyrosinase-related protein 1 001249 Coat colour, brown T T brachyury transcription factor 000975 Tail, short ASIP aspartic peptidase, retroviral-like 1 000201 Coat colour, agouti ASIP aspartic peptidase, retroviral-like 1 000201 Coat colour, agouti MLPH melanophilin 000031 Alopecia, colour mutant MC1R melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor) 001199 Coat colour, extension MC1R melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor) 001199, 001495 Coat colour, grizzle, Coat colour, extension CBD103 beta-defensin 103 001416 Coat colour, dominant black PSMB7 proteasome subunit beta 7 001454 Coat colour, harlequin KRT71 keratin 71, type II 000245 Curly coat MLPH melanophilin 000031 Coat colour, dilute CBD103 beta-defensin 103 001416 Coat colour, dominant black FGF5 fibroblast growth factor 5 000439 Hair, long FGF5 fibroblast growth factor 5 000439 Hair, long FGF5 fibroblast growth factor 5 000439 Hair, long RSPO2 R-spondin 2 001498 Improper coat FGF5 fibroblast growth factor 5 000439 Hair length TYRP1 tyrosinase-related protein 1 001249 Coat colour, brown TYRP1 tyrosinase-related protein 1 001249 Coat colour, brown KIT KIT proto-oncogene receptor tyrosine kinase 001737 Coat colour, white spotting, KIT-related Enfermedades Gene Symbol Gene Name OMIA Number Disease CNGB1 cyclic nucleotide gated channel beta 1 000830 Progressive retinal atrophy ENAM enamelin 001805 Amelogenesis imperfecta SEL1L sel-1 suppressor of lin-12-like (C. elegans) 001692 Ataxia, cerebellar, progressive early-onset LGI2 leucine-rich repeat LGI family, member 2 001596 Epilepsy, benign familial juvenile C3 complement component 3 000155 C3 deficiency ARSG arylsulfatase G 001503 Neuronal ceroid lipofuscinosis, 4A ATP1B2 ATPase, Na+/K+ transporting, beta 2 polypeptide 002110 Ataxia, cerebellar, ATP1B2-related CNGB3 cyclic nucleotide gated channel beta 3 001676 Achromatopsia (cone degeneration, hemeralopia), GSPT VLDLR very low density lipoprotein receptor 001947 Cerebellar hypoplasia, VLDLR-associated MUTYH mutY DNA glycosylase 000175 Cerebellar abiotrophy SDCA1 / ATP1B2 Ataxia, cerebellar, ATP1B2-related 002110 Ataxia, cerebellar, ATP1B2-related SNX14 sorting nexin 14 002034 Cerebellar cortical degeneration, Hungarian Vizsla TPO thyroid peroxidase 000536 Hypothyroidism ITGA10 integrin, alpha 10 001886 Chondrodysplasia, disproportionate short-limbed CCDC39 coiled-coil domain containing 39 001540 Ciliary dyskinesia, primary CLN5 ceroid-lipofuscinosis, neuronal 5 001482 Neuronal ceroid lipofuscinosis, 5 ITGB2 integrin subunit beta 2 000595 Leukocyte adhesion deficiency, type I FERMT3 fermitin family member 3 001525 Leukocyte adhesion deficiency, type III BEST1 bestrophin 1 001444 Multifocal retinopathy 1 BEST1 bestrophin 1 001553 Multifocal retinopathy 2 ATP7A ATPase, Cu++ transporting, alpha polypeptide 000640 Menkes disease ATP7B ATPase, Cu++ transporting, beta polypeptide 001071 Wilson disease SLC37A2 solute carrier family 37 (glucose-6-phosphate transporter), member 2 000236 Craniomandibular osteopathy PDE6B phosphodiesterase 6B, cGMP-specific, rod, beta 001674 Cone-rod dystrophy 1 IQCB1 IQ motif containing B1 001675 Cone-rod dystrophy 2 RPE65 retinal pigment epithelium-specific protein 65kDa 001222 Leber congenital amaurosis (congenital stationary night blindness) SLC3A1 solute carrier family 3 (amino acid transporter heavy chain), member 1 000256 Cystinuria, type I – A SLC3A1 solute carrier family 3 (amino acid transporter heavy chain), member 1 001879 Cystinuria, type II – A SLC3A1 solute carrier family 3 (amino acid transporter heavy chain), member 1 001879 Cystinuria, type II – A SLC7A9 solute carrier family 7 (amino acid transporter light chain, bo,+ system), member 9 001880 Cystinuria, type II – B FAM20C family with sequence similarity 20, member C 002015 Dental hypomineralization FLCN folliculin 001335 Renal cystadenocarcinoma and nodular dermatofibrosis BEST1 bestrophin 1 001554 Multifocal retinopathy 3 BEST1 bestrophin 1 001554 Multifocal retinopathy 3 ADAM9 ADAM metallopeptidase domain 9 001520 Cone-rod dystrophy 3 SOD1 superoxide dismutase 1, soluble 000263 Degenerative myelopathy GLB1 galactosidase, beta 1 000402 Gangliosidosis, GM1 (Alaskan Husky) GLB1 galactosidase, beta 1 000402 Gangliosidosis, GM1 (Gangliosidosis_PWD) GAA glucosidase, alpha; acid 000419 Glycogen storage disease II F9 coagulation factor IX 000438 Haemophilia B SLC27A4 solute carrier family 27 (fatty acid transporter), member 4 001973 Ichthyosis, SLC27A4-related AMHR2 anti-Mullerian hormone receptor, type II 000791 Persistent Mullerian duct syndrome ATP13A2 ATPase type 13A2 001552 Neuronal ceroid lipofuscinosis, 12 CLN6 ceroid-lipofuscinosis, neuronal 6, late infantile, variant 001443 Neuronal ceroid lipofuscinosis, 6 PDE6A phosphodiesterase 6A, cGMP-specific, rod, alpha 001314 Rod-cone dysplasia 3 KCNJ10 potassium channel, inwardly rectifying subfamily J, member 10 : [variant c.627C>G] 002089 Ataxia, cerebellar, KCNJ10-related F7 coagulation factor VII (serum prothrombin conversion accelerator) 000361 Factor VII deficiency ABCB4 ATP-binding cassette, sub-family B (MDR/TAP), member 4 001524 Gallbladder mucoceles GALC galactosylceramidase 000578 Krabbe disease ADAMTS10 ADAM metallopeptidase with thrombospondin type 1 motif, 10 001870 Glaucoma, primary open angle, ADAMTS10-related G6PC glucose-6-phosphatase, catalytic subunit 000418 Glycogen storage disease Ia GLB1 galactosidase, beta 1 000402 Gangliosidosis, GM1 HEXB hexosaminidase B (beta polypeptide) 001462 Gangliosidosis, GM2, type II DMD Duchenne muscular dystrophy 001081 Muscular dystrophy, Duchenne type TTC8 tetratricopeptide repeat domain 8 001984 Golden Retriever PRA 2 AGL amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase 001577 Glycogen storage disease IIIa CNGB1 cyclic nucleotide gated channel beta 1 000830 Progressive retinal atrophy SLC27A4 solute carrier family 27 (fatty acid transporter), member 4 001973 Ichthyosis, SLC27A4-related ARHGEF10 Rho guanine nucleotide exchange factor (GEF) 10 001917 Polyneuropathy, ARHGEF10-related COL1A1 collagen, type I, alpha 1 002126 Osteogenesis imperfecta, type III, COL1A1-related ASPRV1 aspartic peptidase, retroviral-like 1 002099 Ichthyosis, ASPRV1-related FOXI3 forkhead box I3 000323 Ectodermal dysplasia CNGA3 cyclic nucleotide gated channel alpha 3 001481 Achromatopsia-2 CNGB3 cyclic nucleotide gated channel beta 3 001365 Achromatopsia (cone degeneration, hemeralopia), AMAL CNGA1 cyclic nucleotide gated channel alpha 1 001977 Progressive retinal atrophy, CNGA1-related ANO6 anoctamin 6 001353 Scott Syndrome LHX3 LIM homeobox 3 000307 Dwarfism, pituitary PKD1 polycystic kidney disease 1 (autosomal dominant) 000807 Polycystic kidney disease SLC2A9 solute carrier family 2 (facilitated glucose transporter), member 9 001033 Urolithiasis CAT catalase 001138 Hypocatalasia FAM83G family with sequence similarity 83, member G 001327 Hyperkeratosis, palmoplantar KRT10 keratin 10, type I 001415 Hyperkeratosis, epidermolytic FNIP2 folliculin interacting protein 2 000526 Hypomyelination of the central nervous system CUBN cubilin (intrinsic factor-cobalamin receptor) 001786 Intestinal cobalamin malabsorption, CUBN-related CUBN cubilin (intrinsic factor-cobalamin receptor) 001786 Intestinal cobalamin malabsorption, CUBN-related RAB3GAP1 RAB3 GTPase activating protein subunit 1 (catalytic) 001970 Polyneuropathy, RAB3GAP1-related L2HGDH L-2-hydroxyglutarate dehydrogenase 001371 L-2-hydroxyglutaricacidemia LOC489707 carbohydrate sulfotransferase 6 002071 Macular corneal dystrophy CLCN1 chloride channel, voltage-sensitive 1 000698 Myotonia DMD Duchenne muscular dystrophy 001081 Muscular dystrophy, Duchenne type GUSB glucuronidase, beta 000667 Mucopolysaccharidosis VII SGSH N-sulfoglucosamine sulfohydrolase 001309 Mucopolysaccharidosis IIIa GUSB glucuronidase, beta: “missense mutation (c.866C>T) causing a pathogenic p.P289L change in a conserved functional domain of β-glucuronidase (GUSB)” 000667 Mucopolysaccharidosis VII MSTN myostatin 000683 Muscular hypertrophy (double muscling) ADAMTSL2 ADAMTS-like 2 001509 Musladin-Lueke syndrome CHAT choline O-acetyltransferase 002072 Myasthenic syndrome, congenital CLCN1 chloride channel, voltage-sensitive 1 000698 Myotonia BIN1 bridging integrator 1 001660 Myopathy, Great Dane MTM1 myotubularin 1 001508 Myotubular myopathy 1 HCRTR2 hypocretin (orexin) receptor 2 000703 Narcolepsy HCRTR2 hypocretin (orexin) receptor 2 000703 Narcolepsy PPT1 palmitoyl-protein thioesterase 1 001504 Neuronal ceroid lipofuscinosis, 1 CTSD cathepsin D 001505 Neuronal ceroid lipofuscinosis, 10 CLN8 ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation) 001506 Neuronal ceroid lipofuscinosis, 8 ATF2 activating transcription factor 2 001471 Neonatal encephalopathy with seizures COL4A5 collagen, type IV, alpha 5 001112 Nephritis, X-linked MFN2 mitofusin 2 002153 Neuroaxonal dystrophy COL1A2 collagen, type I, alpha 2 002112 Osteogenesis Imperfecta SERPINH1 serpin peptidase inhibitor, clade H (heat shock protein 47), member 1, (collagen binding protein 1) 001483 Osteogenesis imperfecta_Dachshund Osteogenesis imperfecta, SERPINH1-related P2RY12 purinergic receptor P2Y, G-protein coupled, 12 001564 Bleeding disorder due to P2RY12 defect PDP1 pyruvate dehyrogenase phosphatase catalytic subunit 1 001406 Pyruvate dehydrogenase deficiency PFKM phosphofructokinase, muscle 000421 Glycogen storage disease VII PKLR pyruvate kinase, liver and RBC 000844 Pyruvate kinase deficiency of erythrocyte PKLR pyruvate kinase, liver and RBC 000844 Pyruvate kinase deficiency of erythrocyte PKLR pyruvate kinase, liver and RBC 000844 Pyruvate kinase deficiency of erythrocyte ADAMTS17 ADAM metallopeptidase with thrombospondin type 1 motif, 17 000588 Lens luxation NDRG1 N-myc downstream regulated 1 002120 Polyneuropathy ADAMTS17 ADAM metallopeptidase with thrombospondin type 1 motif, 17 001976 Glaucoma JAK2 Janus kinase 2 000809 Polycythemia NDRG1 N-myc downstream regulated 1 002120 Polyneuropathy, NDRG1-related SAG S-antigen; retina and pineal gland (arrestin) 001876 Progressive retinal atrophy, Basenji KLKB1 kallikrein B, plasma (Fletcher factor) 1 000819 Prekallikrein deficiency PDE6B phosphodiesterase 6B, cGMP-specific, rod, beta 001669 Rod-cone dysplasia 1a PDE6B phosphodiesterase 6B, cGMP-specific, rod, beta 000882 Rod-cone dysplasia 1 COL7A1 collagen, type VII, alpha 1 000341 Epidermolysis bullosa, dystrophic RAG1 recombination activating gene 1 001574 Severe combined immunodeficiency disease, autosomal, T cell-negative, B cell-negative, NK cell-positive COL11A2 collagen, type XI, alpha 2 001772 Skeletal dysplasia 2 (SD2) PRKDC protein kinase, DNA-activated, catalytic polypeptide 000220 Severe combined immunodeficiency disease, autosomal SMOC2 SPARC related modular calcium binding 2 001551 Brachycephaly CAPN1 calpain 1, (mu/I) large subunit 001820 Ataxia, spinocerebellar, CAPN1-related TGM1 transglutaminase 1 000546 Ichthyosis, Golden Retriever   Ichthyosis, TGM1-related ITGA2B integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41) 001000 Thrombasthenia ITGA2B integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41) 001000 Thrombasthenia TUBB1 tubulin, beta 1 class VI 001001 Thrombocytopaenia RASGRP1 RAS guanyl releasing protein 1 (calcium and DAG-regulated) 001003 Thrombopathia RASGRP1 RAS guanyl releasing protein 1 (calcium and DAG-regulated) 001003 Thrombopathia VPS13B Vacuolar protein sorting 13 homolog B (yeast) 001428 Trapped Neutrophil Syndrome PLP1 Proteolipid protein 1 000770 Tremor, X-linked VDR Vitamin D (1,25- dihydroxyvitamin D3) receptor 001431 Vitamin D-deficiency rickets, type II VWF Von Willebrand factor 001057 Von Willebrand disease I VWF Von Willebrand factor 001339 Von Willebrand disease II VWF Von Willebrand factor 001058 Von Willebrand disease III VWF Von Willebrand factor 001058 Von Willebrand disease III IL2RG Interleukin 2 receptor, gamma 000899 Severe combined immunodeficiency disease, X-linked