Division of Human Genetics (Medical University Innsbruck)

General information

Division of Human Genetics
Medical University Innsbruck
Peter-Mayr-Str. 1
Innsbruck
Tirol
Austria - 6020
http://www.humgen.at/
Organization ID: 320418

Personnel

View this laboratory in GTR

Assertion criteria

Level: Assertion criteria provided

Summary of submissions to ClinVar

Total submissions: 140

Gene

GeneSubmissionsLast Updated
BRCA121Feb 11, 2015
BRCA223Feb 11, 2015
C1R14Jan 4, 2017
C1S2Aug 23, 2016
CYP21A263Jul 4, 2019
LOC10678080062Jul 4, 2019
MSH61Jun 19, 2020
NF112Mar 4, 2020
PMS24Jun 19, 2020

Testing in GTR

Disease nameNumber of tests
3 Methylcrotonyl-CoA carboxylase 1 deficiency1 test
3 beta-Hydroxysteroid dehydrogenase deficiency2 tests
3-Methylglutaconic aciduria type 11 test
3-methylcrotonyl CoA carboxylase 2 deficiency1 test
Achondroplasia1 test
Acrocephalosyndactyly type I1 test
Acroerythrokeratoderma1 test
Acute intermittent porphyria1 test
Adrenoleukodystrophy1 test
Alagille syndrome 11 test
Alzheimer disease1 test
Amelocerebrohypohidrotic syndrome1 test
Amyloidogenic transthyretin amyloidosis1 test
Angelman syndrome2 tests
Antithrombin III deficiency1 test
Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis1 test
Aspartylglucosaminuria1 test
Autism, susceptibility to, X-linked 31 test
Autosomal recessive axonal neuropathy with neuromyotonia1 test
Bardet-Biedl syndrome1 test
Benign scapuloperoneal muscular dystrophy with cardiomyopathy1 test
Beta-thalassemia, dominant inclusion body type1 test
Biotinidase deficiency1 test
Bone osteosarcoma1 test
CHARGE association1 test
Carnitine palmitoyltransferase II deficiency, infantile1 test
Carnitine palmitoyltransferase II deficiency, lethal neonatal1 test
Carpal tunnel syndrome1 test
Charcot-Marie-Tooth disease axonal type 2F1 test
Charcot-Marie-Tooth disease axonal type 2K1 test
Charcot-Marie-Tooth disease dominant intermediate d1 test
Charcot-Marie-Tooth disease type 2B11 test
Charcot-Marie-Tooth disease type 2E1 test
Charcot-Marie-Tooth disease type 2I1 test
Charcot-Marie-Tooth disease, demyelinating, type 1b1 test
Charcot-Marie-Tooth disease, demyelinating, type 1d1 test
Charcot-Marie-Tooth disease, demyelinating, type 1f1 test
Charcot-Marie-Tooth disease, type 2A2A1 test
Charcot-Marie-Tooth disease, type 4A1 test
Charcot-Marie-Tooth disease, type 4C1 test
Childhood hypophosphatasia1 test
Cholestasis, intrahepatic, of pregnancy 31 test
Choroidal dystrophy, central areolar 21 test
Chronic infantile neurological, cutaneous and articular syndrome1 test
Citrullinemia type I1 test
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency1 test
Classic homocystinuria1 test
Cone dystrophy with supernormal rod response1 test
Cone-rod dystrophy 61 test
Cone-rod dystrophy, X-linked 11 test
Congenital adrenal hyperplasia1 test
Congenital glucose-galactose malabsorption1 test
Congenital hyperammonemia, type I1 test
Congenital hypomyelinating neuropathy 1, autosomal recessive1 test
Congenital microvillous atrophy1 test
Congenital secretory diarrhea, chloride type1 test
Congenital secretory diarrhea, sodium type1 test
Congenital stationary night blindness, autosomal dominant 11 test
Craniosynostosis 11 test
Crouzon syndrome1 test
Cystic fibrosis1 test
D-2-hydroxyglutaric aciduria 11 test
Deafness, autosomal dominant 2b1 test
Deafness, autosomal dominant 3a1 test
Deafness, autosomal dominant 91 test
Deafness, autosomal recessive 1A2 tests
Deficiency of 2-methylbutyryl-CoA dehydrogenase1 test
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase1 test
Deficiency of butyryl-CoA dehydrogenase1 test
Deficiency of hydroxymethylglutaryl-CoA lyase1 test
Deficiency of pyrroline-5-carboxylate reductase1 test
Deficiency of steroid 11-beta-monooxygenase2 tests
Dejerine-Sottas disease1 test
Dihydropyrimidine dehydrogenase deficiency1 test
Dilated cardiomyopathy 1A1 test
Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome1 test
Disordered steroidogenesis due to cytochrome p450 oxidoreductase deficiency1 test
Distal hereditary motor neuronopathy type 2B1 test
Dystonia 91 test
Dystransthyretinemic euthyroidal hyperthyroxinemia1 test
Epilepsy, idiopathic generalized, susceptibility to, 121 test
Epilepsy, progressive myoclonic 31 test
Epileptic encephalopathy, early infantile, 11 test
Erythrokeratodermia variabilis et progressiva 12 tests
Fabry disease1 test
Familial Mediterranean fever1 test
Familial amyloid nephropathy with urticaria AND deafness1 test
Familial cold autoinflammatory syndrome 11 test
Familial hemiplegic migraine type 31 test
Familial hypercholesterolemia 11 test
Familial mediterranean fever, autosomal dominant1 test
Familial partial lipodystrophy 21 test
Familial porphyria cutanea tarda1 test
Familial renal glucosuria1 test
Fetal hemoglobin quantitative trait locus 11 test
Friedreich ataxia 11 test
GLUT1 deficiency syndrome 11 test
GLUT1 deficiency syndrome 21 test
GM1 gangliosidosis type 21 test
GM1 gangliosidosis type 31 test
Galactosylceramide beta-galactosidase deficiency1 test
Generalized epilepsy with febrile seizures plus, type 21 test
Glucose-6-phosphate transport defect1 test
Glutaric aciduria, type 11 test
Glutaryl-CoA oxidase deficiency1 test
Glutathione synthetase deficiency of erythrocytes, hemolytic anemia due to1 test
Gluthathione synthetase deficiency1 test
Glycogen storage disease IXb1 test
Glycogen storage disease IXc1 test
Glycogen storage disease due to glucose-6-phosphatase deficiency type IA1 test
Glycogen storage disease type IXa11 test
Glycogen storage disease, type II1 test
Glycogen storage disease, type IV1 test
Glycogen storage disease, type V1 test
Glycogen storage disease, type VI1 test
HSD10 disease1 test
Hb SS disease1 test
Heart-hand syndrome, Slovenian type1 test
Heinz body anemia1 test
Hemochromatosis type 11 test
Hepatic methionine adenosyltransferase deficiency1 test
Hereditary factor VIII deficiency disease1 test
Hereditary fructosuria1 test
Hereditary motor and sensory neuropathy with optic atrophy1 test
Homocystinuria due to methylene tetrahydrofolate reductase deficiency1 test
Hutchinson-Gilford syndrome1 test
Hyperimmunoglobulin D with periodic fever1 test
Hyperlipidemia, familial combined, LPL related1 test
Hyperlipoproteinemia, type I1 test
Hyperlysinemia1 test
Hyperparathyroidism 21 test
Hystrix-like ichthyosis with deafness1 test
Idiopathic nephrotic syndrome1 test
Infantile GM1 gangliosidosis1 test
Isovaleryl-CoA dehydrogenase deficiency1 test
Joubert syndrome 141 test
Joubert syndrome 61 test
Joubert syndrome with hepatic defect1 test
Juvenile retinoschisis1 test
Keratitis-ichthyosis-deafness syndrome, autosomal dominant1 test
Knuckle pads, deafness AND leukonychia syndrome1 test
Langer mesomelic dysplasia syndrome1 test
Leber congenital amaurosis 11 test
Leber congenital amaurosis 131 test
Leber congenital amaurosis 81 test
Leri-Weill dyschondrosteosis1 test
Lissencephaly 2, X-linked1 test
Macular degeneration, X-linked atrophic1 test
Macular dystrophy, patterned, 11 test
Macular dystrophy, vitelliform, adult-onset1 test
Maple syrup urine disease2 tests
Meckel syndrome, type 31 test
Medium-chain acyl-coenzyme A dehydrogenase deficiency1 test
Mental retardation, X-linked, syndromic 131 test
Metachromatic leukodystrophy1 test
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency1 test
Mevalonic aciduria1 test
Microvascular complications of diabetes 71 test
Mononeuropathy of the median nerve, mild1 test
Mucopolysaccharidosis, MPS-III-A1 test
Mucopolysaccharidosis, MPS-IV-B1 test
Muenke syndrome1 test
Multiple sclerosis, susceptibility to, 51 test
Mutilating keratoderma1 test
Myoglobinuria, acute recurrent, autosomal recessive1 test
Nephronophthisis 111 test
Niemann-Pick disease type C11 test
Niemann-Pick disease, type A1 test
Niemann-Pick disease, type B1 test
Niemann-Pick disease, type C21 test
Non-ketotic hyperglycinemia2 tests
Ornithine carbamoyltransferase deficiency1 test
Palmoplantar keratoderma-deafness syndrome1 test
Phenylketonuria1 test
Phosphate transport defect1 test
Pigmentary retinal dystrophy2 tests
Polyglandular autoimmune syndrome, type 11 test
Porokeratosis 3, disseminated superficial actinic type1 test
Propionic acidemia2 tests
Protoporphyria, erythropoietic, 11 test
Pyridoxine-dependent epilepsy1 test
Retinitis pigmentosa 11 test
Retinitis pigmentosa 111 test
Retinitis pigmentosa 121 test
Retinitis pigmentosa 151 test
Retinitis pigmentosa 21 test
Retinitis pigmentosa 41 test
Retinitis pigmentosa 451 test
Retinitis pigmentosa 71 test
Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness1 test
Retinoblastoma1 test
Rett syndrome1 test
Robinow-Sorauf syndrome1 test
Roussy-Lévy syndrome1 test
Saethre-Chotzen syndrome1 test
Severe myoclonic epilepsy in infancy1 test
Severe neonatal-onset encephalopathy with microcephaly1 test
Short stature, idiopathic, X-linked1 test
Smith-Lemli-Opitz syndrome1 test
Spongy degeneration of central nervous system1 test
Susceptibility to malaria1 test
Syndromic X-linked intellectual disability Lubs type1 test
TNF receptor-associated periodic fever syndrome (TRAPS)1 test
Tetralogy of Fallot1 test
Transferrin serum level quantitative trait locus 21 test
Trimethylaminuria1 test
Tyrosinemia type I1 test
UDPglucose-4-epimerase deficiency1 test
Urinary bladder cancer1 test
Variegate porphyria2 tests
Vohwinkel syndrome, variant form1 test
Wilson disease1 test
X-linked ichthyosis with steryl-sulfatase deficiency1 test
beta Thalassemia1 test
mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency1 test
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