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Institute of Human Genetics (Cologne University)

General information

Institute of Human Genetics
Cologne University
Kerpener Str. 34
Cologne
Nordrhein-Westfalen
Germany - 50931
http://humangenetik.uk-koeln.de/
Organization ID: 243629

Personnel

View this laboratory in GTR

Assertion criteria

Level: Assertion criteria provided

Summary of submissions to ClinVar

Total submissions: 398

Gene

GeneSubmissionsLast Updated
AARS14Jan 3, 2022
ACTA11May 11, 2018
ACTA22Dec 17, 2021
ACTN41Jun 6, 2017
ADAR1Sep 23, 2019
ADNP1Nov 21, 2019
ADPRS1Oct 2, 2020
AEBP11Dec 17, 2021
AFF21Dec 15, 2021
AGPAT21Jul 16, 2019
AGTPBP12Oct 2, 2020
AGXT1Apr 26, 2022
ALG11Mar 5, 2021
ANLN1Sep 4, 2020
AQP21Jun 8, 2017
AQP5-AS11Jun 8, 2017
ARHGEF102Nov 28, 2018
ARHGEF91Dec 29, 2020
ARID1B5Sep 20, 2021
ARSA1Oct 2, 2020
ARX1Dec 17, 2021
ATP7A1May 11, 2018
AVPR21Oct 24, 2016
BBS101Aug 19, 2019
BCL11A1Mar 30, 2020
BCOR1Dec 17, 2021
BICD21May 11, 2018
BMPR22Dec 17, 2021
C31Mar 5, 2021
CACNA1H1Sep 20, 2021
CAPN31Oct 18, 2017
CASR5Dec 17, 2021
CFH2Aug 28, 2020
CFTR2Oct 23, 2020
CFTR-AS11Aug 30, 2018
CHD1L1Apr 11, 2019
CHD41Sep 4, 2020
CHD75Dec 17, 2021
CHD81Dec 17, 2021
CHKB1Dec 17, 2021
CHKB-CPT1B1Dec 17, 2021
CHRNG1Jan 19, 2018
CLCN11May 11, 2018
COL11A21Sep 28, 2020
COL12A12May 11, 2018
COL1A111Apr 25, 2022
COL1A28Dec 17, 2021
COL2A12Jul 12, 2021
COL3A12Sep 28, 2017
COL4A35Apr 25, 2022
COL4A46Dec 17, 2021
COL4A510Apr 25, 2022
COL5A21Apr 2, 2020
COL6A11May 11, 2018
COL6A21May 11, 2018
COL6A31May 11, 2018
COL9A31Apr 6, 2021
CRTAP1Aug 2, 2017
CTNS3Mar 24, 2020
CTNS-AS11Mar 7, 2018
CYP24A11Nov 14, 2019
DHTKD12May 11, 2018
DLG41Dec 17, 2021
DNAJB112May 19, 2021
DNM1L1Oct 2, 2020
DNMT3A1May 22, 2019
DOK71Dec 17, 2021
DSG12Apr 25, 2022
DSG1-AS12Apr 25, 2022
ECEL12Dec 4, 2018
ECHS11Oct 2, 2020
EEF2KMT1Mar 5, 2021
EFTUD22Apr 25, 2022
EGR21Oct 2, 2020
ERCC61Dec 11, 2018
ETFDH1May 11, 2018
EXOSC31Oct 2, 2020
EYA11Feb 14, 2020
EZH21Jul 16, 2019
FARS21Dec 17, 2021
FAT11Sep 26, 2019
FBLN51May 11, 2018
FBN110Jan 26, 2022
FBXO111Dec 17, 2021
FBXO381May 11, 2018
FDXR1Oct 2, 2020
FH1Mar 9, 2020
FKBP101May 21, 2019
FKRP1Dec 29, 2017
FLCN1Jul 28, 2017
FUS2May 11, 2018
FXN1May 11, 2018
GAN1May 11, 2018
GARS13Dec 17, 2021
GBF14Aug 11, 2020
GDAP13May 11, 2018
GNA111Dec 5, 2019
GNPTAB1Dec 6, 2018
GREB1L1Dec 17, 2021
GRHPR1Dec 19, 2018
HINT11May 11, 2018
HNF1B2Jul 15, 2019
HNF4A1Sep 4, 2017
HNRNPK1May 12, 2021
HSPB11May 11, 2018
HSPD11May 22, 2019
IFIH11Sep 23, 2019
IFT1401Dec 17, 2021
IGHMBP24May 11, 2018
INPPL11Nov 28, 2018
JAG11Nov 27, 2020
KCNH11Sep 4, 2019
KCNT21Jul 12, 2021
KIF1B1May 11, 2018
KIF5C2Jul 30, 2019
KMT2D3May 11, 2018
KMT2E18May 11, 2021
LAMA11Dec 17, 2021
LAMB21Jun 30, 2017
LDLR1Dec 17, 2021
LGI42May 11, 2018
LIFR2Feb 1, 2021
LMX1B4Dec 5, 2019
LOC1005073461Dec 17, 2021
LOC1073033401Mar 5, 2021
LOC1079822341Jun 8, 2017
LRP22Apr 17, 2019
LRP51Mar 21, 2019
LZTR11Aug 9, 2018
MACF16Oct 2, 2020
MAGEL21Jan 11, 2019
MAP2K11Mar 30, 2020
MARS11May 11, 2018
MBD51Aug 28, 2020
MEN11Jun 3, 2020
MET1Jan 17, 2018
MFF-DT5Apr 25, 2022
MFN24May 11, 2018
MME1May 11, 2018
MORC21May 11, 2018
MPV171Oct 2, 2020
MPZ3Dec 17, 2021
MTMR21May 11, 2018
MTRFR1Oct 2, 2020
MYH31Jan 25, 2022
MYLK1Apr 5, 2017
NBAS1Dec 17, 2021
NDUFS61Oct 2, 2020
NEXMIF1Nov 2, 2020
NF11Jan 6, 2020
NFKB12Dec 17, 2021
NIPBL1Jul 16, 2019
NLGN31Dec 15, 2021
NOTCH21Dec 19, 2018
NPHP31Jul 14, 2017
NPHP3-ACAD111Jul 14, 2017
NPR21Nov 15, 2019
NR3C21Apr 25, 2022
OCA21Nov 6, 2020
OSGEP1Jan 3, 2022
P3H11Jul 4, 2019
PACS21Dec 17, 2021
PAX61Dec 17, 2021
PAX81Dec 17, 2021
PAX8-AS11Dec 17, 2021
PCDH151Dec 3, 2021
PDXK1Oct 2, 2020
PGAP22Apr 25, 2022
PHEX1Sep 20, 2021
PIEZO22May 11, 2018
PIGN1Nov 5, 2019
PKD119Dec 17, 2021
PKD1-AS11Dec 17, 2021
PKD26Dec 17, 2021
PKHD13Apr 25, 2022
PLCE11Apr 25, 2022
PLEKHG53May 11, 2018
PLOD21Jun 11, 2018
PLS31Aug 7, 2017
PNPLA82Dec 17, 2021
POGZ1Dec 17, 2021
POLG2Oct 2, 2020
PRX2Dec 16, 2021
PTCH11Dec 17, 2021
PTCHD1-AS1Sep 20, 2021
RARB1Dec 17, 2021
ROBO41Dec 17, 2021
RUNX21Dec 16, 2021
SACS1May 11, 2018
SDHD1Nov 21, 2019
SEPSECS2Oct 2, 2020
SERPINF11Mar 21, 2019
SETD1A1Apr 25, 2022
SETX4Oct 2, 2020
SH3TC21Jul 24, 2019
SLC12A32Sep 6, 2017
SLC12A61May 11, 2018
SLC16A21Dec 15, 2021
SLC2A21May 31, 2017
SLC34A31Apr 25, 2022
SLC3A11Aug 10, 2017
SLC4A41Jun 11, 2018
SLC52A22May 11, 2018
SLC5A71May 11, 2018
SLC7A91Dec 17, 2021
SMAD32Mar 9, 2020
SMARCA21Oct 24, 2016
SMARCAL12Jan 7, 2019
SMN11Apr 2, 2020
SOD12May 11, 2018
SON1May 22, 2019
SPG111Oct 2, 2020
SPG72May 11, 2018
SRCAP1Jan 30, 2019
SRPK23May 11, 2021
STAT31Dec 17, 2021
SUCLA21Dec 17, 2021
SYNE11May 11, 2018
TAPBPL1May 11, 2018
TGFB21May 29, 2018
TGFBR11Dec 5, 2019
TIGD11Jan 19, 2018
TLK21Apr 6, 2021
TNNI31May 4, 2018
TRPV42Nov 28, 2018
TSC23Oct 26, 2017
TTN2Oct 2, 2020
TTN-AS12Oct 2, 2020
TUBA1A1Nov 30, 2018
TUBB31Jan 30, 2019
UMOD4Mar 5, 2021
VAMP11May 11, 2018
VCP1May 11, 2018
VHL2Mar 5, 2021
VPS13D2Oct 2, 2020
WNK41Feb 14, 2018
WT11Jun 8, 2017
ZFYVE262May 11, 2018
ZNF4691May 29, 2018

Condition

NameSubmissionsLast Updated
2-aminoadipic 2-oxoadipic aciduria1May 11, 2018
ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder1Nov 21, 2019
ALG1-CDG1Mar 5, 2021
Abnormality of the urinary system1Apr 11, 2019
Acromesomelic dysplasia 1, Maroteaux type1Nov 15, 2019
Adult-onset proximal spinal muscular atrophy, autosomal dominant1May 11, 2018
Aicardi-Goutieres syndrome 61Sep 23, 2019
Aicardi-Goutieres syndrome 71Sep 23, 2019
Alagille syndrome due to a JAG1 point mutation1Nov 27, 2020
Alagille syndrome due to a NOTCH2 point mutation1Dec 19, 2018
Allan-Herndon-Dudley syndrome1Dec 15, 2021
Alport syndrome4Dec 17, 2021
Amyotrophic lateral sclerosis type 12May 11, 2018
Amyotrophic lateral sclerosis type 41Oct 2, 2020
Amyotrophic lateral sclerosis type 61May 11, 2018
Aneurysm-osteoarthritis syndrome2Mar 9, 2020
Aniridia 11Dec 17, 2021
Aortic aneurysm, familial thoracic 62Dec 17, 2021
Aortic aneurysm, familial thoracic 71Apr 5, 2017
Aortic valve disease 31Dec 17, 2021
Arthrogryposis multiplex congenita 1, neurogenic, with myelin defect2May 11, 2018
Arthrogryposis, distal, with impaired proprioception and touch1May 11, 2018
Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome1Dec 17, 2021
Atypical hemolytic-uremic syndrome with C3 anomaly1Mar 5, 2021
Autism, susceptibility to, 181Dec 17, 2021
Autism, susceptibility to, X-linked 11Dec 15, 2021
Autosomal dominant Alport syndrome6Apr 25, 2022
Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures1May 11, 2018
Autosomal dominant congenital benign spinal muscular atrophy1May 11, 2018
Autosomal dominant intermediate Charcot-Marie-Tooth disease1May 11, 2018
Autosomal dominant pseudohypoaldosteronism type 11Apr 25, 2022
Autosomal dominant slowed nerve conduction velocity2Nov 28, 2018
Autosomal recessive Alport syndrome4Dec 30, 2020
Autosomal recessive ataxia, Beauce type1May 11, 2018
Autosomal recessive axonal hereditary motor and sensory neuropathy2May 11, 2018
Autosomal recessive axonal neuropathy with neuromyotonia1May 11, 2018
Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome2Oct 2, 2020
Autosomal recessive distal hereditary motor neuropathy1May 11, 2018
Autosomal recessive distal spinal muscular atrophy 11May 11, 2018
Autosomal recessive hypophosphatemic bone disease1Apr 25, 2022
Autosomal recessive limb-girdle muscular dystrophy type 2A1Oct 18, 2017
Autosomal recessive limb-girdle muscular dystrophy type 2I1Dec 29, 2017
Autosomal recessive limb-girdle muscular dystrophy type 2J2Oct 2, 2020
Autosomal recessive lower motor neuron disease with childhood onset1May 11, 2018
Autosomal recessive polycystic kidney disease2Mar 9, 2020
Autosomal recessive proximal renal tubular acidosis1Jun 11, 2018
Bardet-Biedl syndrome 101Aug 19, 2019
Bethlem myopathy 12May 11, 2018
Bone mineral density quantitative trait locus 181Aug 7, 2017
Branchiootorenal syndrome 11Feb 14, 2020
Brittle cornea syndrome 11May 29, 2018
Brown-Vialetto-van Laere syndrome 22May 11, 2018
Bruck syndrome 21Jun 11, 2018
CHARGE association5Dec 17, 2021
Cardiofaciocutaneous syndrome 31Mar 30, 2020
Cardiomyopathy, familial restrictive, 11May 4, 2018
Charcot-Marie-Tooth disease axonal type 2C1Nov 28, 2018
Charcot-Marie-Tooth disease axonal type 2N1May 11, 2018
Charcot-Marie-Tooth disease axonal type 2Q1Dec 12, 2017
Charcot-Marie-Tooth disease axonal type 2S2May 11, 2018
Charcot-Marie-Tooth disease axonal type 2Z1May 11, 2018
Charcot-Marie-Tooth disease dominant intermediate D2Jul 6, 2020
Charcot-Marie-Tooth disease recessive intermediate A3May 11, 2018
Charcot-Marie-Tooth disease type 21May 11, 2018
Charcot-Marie-Tooth disease type 2A21May 11, 2018
Charcot-Marie-Tooth disease type 2D1Dec 17, 2021
Charcot-Marie-Tooth disease type 4B11May 11, 2018
Charcot-Marie-Tooth disease type 4C1Jul 24, 2019
Charcot-Marie-Tooth disease type 4E1Oct 2, 2020
Charcot-Marie-Tooth disease type 4F2Dec 16, 2021
Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b;3May 11, 2018
Charcot-Marie-Tooth disease, axonal, type 2EE1Oct 2, 2020
Charlevoix-Saguenay spastic ataxia1May 11, 2018
Cleidocranial dysostosis1Dec 16, 2021
Cockayne syndrome type 21Dec 11, 2018
Coffin-Siris syndrome 15Sep 20, 2021
Combined oxidative phosphorylation defect type 141Dec 17, 2021
Complex cortical dysplasia with other brain malformations 22Jul 30, 2019
Congenital generalized lipodystrophy type 11Jul 16, 2019
Congenital myasthenic syndrome1May 11, 2018
Cornelia de Lange syndrome 11Jul 16, 2019
Cystic fibrosis2Oct 23, 2020
Cystinuria2Dec 17, 2021
Developmental and epileptic encephalopathy, 293Jan 3, 2022
Developmental and epileptic encephalopathy, 571Jul 12, 2021
Developmental and epileptic encephalopathy, 661Dec 17, 2021
Developmental and epileptic encephalopathy, 81Dec 29, 2020
Diabetes insipidus, nephrogenic, X-linked1Oct 24, 2016
Diabetes insipidus, nephrogenic, autosomal1Jun 8, 2017
Dias-Logan syndrome1Mar 30, 2020
Distal arthrogryposis type 5D2Dec 4, 2018
Distal spinal muscular atrophy9May 11, 2018
Donnai-Barrow syndrome2Apr 17, 2019
Ehlers-Danlos syndrome, classic type, 21Apr 2, 2020
Ehlers-Danlos syndrome, classic-like, 21Dec 17, 2021
Ehlers-Danlos syndrome, type 41Aug 7, 2017
Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 11Oct 2, 2020
Epilepsy, early-onset, with or without developmental delay1Apr 25, 2022
Epiphyseal dysplasia, multiple, 31Apr 6, 2021
FRAXE1Dec 15, 2021
Familial X-linked hypophosphatemic vitamin D refractory rickets1Sep 20, 2021
Familial hypocalciuric hypercalcemia 14Jan 6, 2020
Familial hypocalciuric hypercalcemia 21Dec 5, 2019
Familial hypokalemia-hypomagnesemia2Sep 6, 2017
Familial juvenile hyperuricemic nephropathy type 14Mar 5, 2021
Fanconi-Bickel syndrome1May 31, 2017
Fetal akinesia deformation sequence 31Dec 17, 2021
Fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement1Jan 30, 2019
Finnish congenital nephrotic syndrome1Sep 26, 2019
Floating-Harbor syndrome1Jan 30, 2019
Focal segmental glomerulosclerosis 11Jun 6, 2017
Focal segmental glomerulosclerosis 81Sep 4, 2020
Freeman-Sheldon syndrome1Jan 25, 2022
Friedreich ataxia 11May 11, 2018
Frontotemporal dementia and/or amyotrophic lateral sclerosis 61May 11, 2018
Galloway-Mowat syndrome 31Jan 3, 2022
Giant axonal neuropathy 11May 11, 2018
Gorlin syndrome1Dec 17, 2021
Hemolytic uremic syndrome, atypical, susceptibility to, 12Aug 28, 2020
Hereditary leiomyomatosis and renal cell cancer1Mar 9, 2020
Hereditary spastic paraplegia 111Oct 2, 2020
Hereditary spastic paraplegia 131May 22, 2019
Hereditary spastic paraplegia 152May 11, 2018
Hereditary spastic paraplegia 551Oct 2, 2020
Hyper-IgE recurrent infection syndrome 11Dec 17, 2021
Hyperaldosteronism, familial, type IV1Sep 20, 2021
Hypercalcemia, infantile, 11Nov 14, 2019
Hypercholesterolemia, familial, 11Dec 17, 2021
Hyperphosphatasia with intellectual disability syndrome 32Apr 25, 2022
Hyperuricemic nephropathy, familial juvenile type 32Jul 15, 2019
Hypocalcemia1Dec 17, 2021
Hypothyroidism, congenital, nongoitrous, 21Dec 17, 2021
Immunodeficiency, common variable, 122Dec 17, 2021
Infantile liver failure syndrome 21Dec 17, 2021
Intellectual developmental disorder1Dec 17, 2021
Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities1Dec 17, 2021
Intellectual disability2Dec 19, 2018
Intellectual disability, autosomal dominant 11Aug 28, 2020
Intellectual disability, autosomal dominant 571Apr 6, 2021
Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome1Dec 17, 2021
Kabuki syndrome 13May 11, 2018
Kugelberg-Welander disease1Apr 2, 2020
Lethal multiple pterygium syndrome1Jan 19, 2018
Lissencephaly due to TUBA1A mutation1Nov 30, 2018
Loeys-Dietz syndrome 11Dec 5, 2019
Loeys-Dietz syndrome 41May 29, 2018
Mandibulofacial dysostosis-microcephaly syndrome2Apr 25, 2022
Marfan syndrome10Jan 26, 2022
Maturity-onset diabetes of the young type 11Sep 4, 2017
Metachromatic leukodystrophy1Oct 2, 2020
Microphthalmia, syndromic 121Dec 17, 2021
Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria1Dec 17, 2021
Mitochondrial complex 1 deficiency, nuclear type 91Oct 2, 2020
Mitochondrial myopathy-lactic acidosis-deafness syndrome2Dec 17, 2021
Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency1Oct 2, 2020
Motor axonal neuropathy4Aug 11, 2020
Motor neuron disease2Dec 17, 2021
Mucolipidosis type II1Dec 6, 2018
Multiple congenital anomalies-hypotonia-seizures syndrome 11Nov 5, 2019
Multiple endocrine neoplasia, type 11Jun 3, 2020
Multiple epiphyseal dysplasia, Beighton type1Apr 6, 2021
Multiple fibrofolliculomas1Jul 28, 2017
Muscular dystrophy1Dec 17, 2021
Nail-patella syndrome4Dec 5, 2019
Nephronophthisis 31Jul 14, 2017
Nephropathic cystinosis2Dec 19, 2018
Nephrotic syndrome, type 31Apr 25, 2022
Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures1Oct 2, 2020
Neurodegeneration, childhood-onset, with cerebellar atrophy2Oct 2, 2020
Neurodevelopmental disorder with speech impairment and dysmorphic facies1Apr 25, 2022
Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome due to a point mutation1May 12, 2021
Neurofibromatosis, type 11Jan 6, 2020
Neuronopathy, distal hereditary motor, type 2B1May 11, 2018
Neuronopathy, distal hereditary motor, type 5A1May 11, 2018
Neuropathy, hereditary motor and sensory, type VIc, with optic atrophy1Oct 2, 2020
Nicolaides-Baraitser syndrome1Oct 24, 2016
Noonan syndrome 101Aug 9, 2018
O'Donnell-Luria-Rodan syndrome17May 11, 2021
Ocular cystinosis1Mar 24, 2020
Oculofaciocardiodental syndrome1Dec 17, 2021
Opsismodysplasia1Nov 28, 2018
Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome1Oct 2, 2020
Osteogenesis imperfecta6Dec 17, 2021
Osteogenesis imperfecta type 111May 21, 2019
Osteogenesis imperfecta type 61Mar 21, 2019
Osteogenesis imperfecta type 71Aug 2, 2017
Osteogenesis imperfecta type 81Jul 4, 2019
Osteogenesis imperfecta type I9Jun 9, 2020
Osteogenesis imperfecta with normal sclerae, dominant form1Aug 2, 2017
Osteogenesis imperfecta, recessive perinatal lethal3Apr 25, 2022
Otospondylomegaepiphyseal dysplasia, autosomal recessive1Sep 28, 2020
Partington syndrome1Dec 17, 2021
Pheochromocytoma1Nov 21, 2019
Pierson syndrome1Jun 30, 2017
Polycystic kidney disease 26Dec 17, 2021
Polycystic kidney disease 41Apr 25, 2022
Polycystic kidney disease 6 with or without polycystic liver disease2May 19, 2021
Polycystic kidney disease, adult type19Dec 17, 2021
Pontocerebellar hypoplasia type 1B1Oct 2, 2020
Pontocerebellar hypoplasia type 2D2Oct 2, 2020
Postmenopausal osteoporosis1Mar 21, 2019
Primary hyperoxaluria, type I1Apr 26, 2022
Primary hyperoxaluria, type II1Dec 19, 2018
Progressive scapulohumeroperoneal distal myopathy1May 11, 2018
Proximal spinal muscular atrophy3May 11, 2018
Pseudohypoaldosteronism type 2B1Feb 14, 2018
Pulmonary venoocclusive disease 1, autosomal dominant2Dec 17, 2021
Renal cell carcinoma, papillary, 11Jan 17, 2018
Renal hypodysplasia/aplasia 31Dec 17, 2021
Saldino-Mainzer syndrome1Dec 17, 2021
Schaaf-Yang syndrome1Jan 11, 2019
Schimke immuno-osseous dysplasia2Jan 7, 2019
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis2Oct 2, 2020
Severe dermatitis-multiple allergies-metabolic wasting syndrome2Apr 25, 2022
Sifrim-Hitz-Weiss syndrome1Sep 4, 2020
Spectraplakinopathy type I6Oct 2, 2020
Spinal muscular atrophy, facioscapulohumeral type1May 11, 2018
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 21May 11, 2018
Stickler syndrome, type I, nonsyndromic ocular1Jul 12, 2021
Stüve-Wiedemann syndrome2Feb 1, 2021
Tall stature-intellectual disability-facial dysmorphism syndrome1May 22, 2019
Temple-Baraitser syndrome1Sep 4, 2019
Tuberous sclerosis 23Oct 26, 2017
Tyrosinase-positive oculocutaneous albinism1Nov 6, 2020
Ullrich congenital muscular dystrophy 21May 11, 2018
Usher syndrome type 1F1Dec 3, 2021
Von Hippel-Lindau syndrome2Mar 5, 2021
Weaver syndrome1Jul 16, 2019
Wilms tumor 11Jun 8, 2017
X-linked Alport syndrome7Apr 25, 2022
X-linked distal spinal muscular atrophy type 31May 11, 2018
X-linked intellectual disability, Cantagrel type1Nov 2, 2020
ZTTK syndrome1May 22, 2019
autosomal recessive PIEZO2 associated disease1Oct 24, 2016
not specified1Sep 28, 2017

Testing in GTR

Disease nameNumber of tests
11p partial monosomy syndrome1 test
AIP-Related Familial Isolated Pituitary Adenomas1 test
AKT2-related familial partial lipodystrophy1 test
AMYLOIDOSIS, LEPTOMENINGEAL, TRANSTHYRETIN-RELATED1 test
Achondroplasia1 test
Acquired partial lipodystrophy1 test
Actin accumulation myopathy1 test
Adams-Oliver syndrome1 test
Aicardi Goutieres syndrome1 test
Aldosterone-producing adrenal cortex adenoma1 test
Alport syndrome2 tests
Aminoglycoside-induced deafness1 test
Amyloid Cardiomyopathy, Transthyretin-related1 test
Amyloidogenic transthyretin amyloidosis1 test
Amyotrophic lateral sclerosis2 tests
Amyotrophic lateral sclerosis type 11 test
Amyotrophic lateral sclerosis type 101 test
Amyotrophic lateral sclerosis type 2, juvenile1 test
Amyotrophic lateral sclerosis type 61 test
Amyotrophic lateral sclerosis type 81 test
Aneurysm-osteoarthritis syndrome1 test
Aniridia 11 test
Antenatal Bartter syndrome1 test
Arthrogryposis, distal, type 1A1 test
Arthrogryposis, distal, type 1B1 test
Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome1 test
Atypical Rett syndrome1 test
Atypical hemolytic-uremic syndrome2 tests
Atypical hemolytic-uremic syndrome with B factor anomaly1 test
Atypical hemolytic-uremic syndrome with C3 anomaly1 test
Atypical hemolytic-uremic syndrome with I factor anomaly1 test
Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly1 test
Atypical hemolytic-uremic syndrome with thrombomodulin anomaly1 test
Autosomal dominant Alport syndrome1 test
Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures1 test
Autosomal dominant congenital benign spinal muscular atrophy1 test
Autosomal dominant hypocalcemia1 test
Autosomal dominant hypocalcemia 11 test
Autosomal dominant hypocalcemia 21 test
Autosomal dominant keratitis1 test
Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)1 test
Autosomal dominant medullary cystic kidney disease with hyperuricemia1 test
Autosomal dominant medullary cystic kidney disease with or without hyperuricemia2 tests
Autosomal dominant nocturnal frontal lobe epilepsy1 test
Autosomal dominant nonsyndromic hearing loss 171 test
Autosomal dominant polycystic kidney disease2 tests
Autosomal dominant pseudohypoaldosteronism type 11 test
Autosomal recessive Alport syndrome1 test
Autosomal recessive distal spinal muscular atrophy 11 test
Autosomal recessive limb-girdle muscular dystrophy2 tests
Autosomal recessive limb-girdle muscular dystrophy type 2I1 test
Autosomal recessive limb-girdle muscular dystrophy type 2K1 test
Autosomal recessive limb-girdle muscular dystrophy type 2M1 test
Autosomal recessive limb-girdle muscular dystrophy type 2N1 test
Autosomal recessive limb-girdle muscular dystrophy type 2O1 test
Autosomal recessive limb-girdle muscular dystrophy type 2T1 test
Autosomal recessive limb-girdle muscular dystrophy type 2U1 test
Autosomal recessive multiple pterygium syndrome2 tests
Autosomal recessive nonsyndromic hearing loss 1A2 tests
Autosomal recessive polycystic kidney disease2 tests
Autosomal recessive primary microcephaly2 tests
Autosomal recessive proximal renal tubular acidosis1 test
Autosomal recessive pseudohypoaldosteronism type 11 test
Bardet-Biedl syndrome1 test
Bardet-Biedl syndrome 101 test
Bartter Syndrome Type 4B, CLCNKA/CLCNKB Digenic1 test
Bartter disease type 11 test
Bartter disease type 21 test
Bartter disease type 31 test
Bartter disease type 4B1 test
Bartter disease type 4a1 test
Bartter disease type 51 test
Bartter syndrome2 tests
Bartter syndrome with hypocalcemia1 test
Bartter syndrome, type 3, with hypocalciuria1 test
Becker muscular dystrophy1 test
Benign familial hematuria1 test
Benign familial neonatal-infantile seizures 11 test
Berardinelli-Seip congenital lipodystrophy1 test
Bethlem myopathy 12 tests
Bone mineral density quantitative trait locus 181 test
Brittle cornea syndrome 11 test
Bruck syndrome2 tests
Bruck syndrome 11 test
Bruck syndrome 21 test
CHRNA1-Related Congenital Myasthenic Syndrome1 test
CIDEC-related familial partial lipodystrophy1 test
Camptodactyly-tall stature-scoliosis-hearing loss syndrome1 test
Cardiac valvular dysplasia, X-linked1 test
Cardiomyopathy1 test
Charcot-Marie-Tooth disease1 test
Classic homocystinuria1 test
Cobalamin C disease1 test
Coenzyme Q10 deficiency, primary, 12 tests
Coenzyme Q10 deficiency, primary, 32 tests
Coffin Siris/Intellectual Disability1 test
Coffin-Siris syndrome2 tests
Coffin-Siris syndrome 11 test
Coffin-Siris syndrome 51 test
Coffin-Siris syndrome 71 test
Cole-Carpenter syndrome1 test
Cole-Carpenter syndrome 11 test
Cole-Carpenter syndrome 21 test
Collagen 6-related myopathy1 test
Collagen IV-related nephropathies1 test
Coloboma of optic nerve1 test
Combined molybdoflavoprotein enzyme deficiency1 test
Combined oxidative phosphorylation defect type 111 test
Complex cortical dysplasia with other brain malformations1 test
Congenital absence of salivary gland1 test
Congenital anomaly of kidney and urinary tract1 test
Congenital disorder of glycosylation1 test
Congenital fibrosis of extraocular muscles1 test
Congenital generalized lipodystrophy type 21 test
Congenital generalized lipodystrophy type 41 test
Congenital intestinal transport defect1 test
Congenital muscular dystrophy2 tests
Congenital muscular dystrophy due to LMNA mutation1 test
Congenital myasthenic syndrome2 tests
Congenital myasthenic syndrome 4C1 test
Congenital myasthenic syndrome 51 test
Congenital myopathy1 test
Congenital myopathy with fiber type disproportion1 test
Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A1 test
Cornelia de Lange syndrome 11 test
Craniolenticulosutural dysplasia1 test
Craniosynostosis 41 test
Craniosynostosis and dental anomalies1 test
Cystic fibrosis2 tests
Cystinosis1 test
Cystinosis, atypical nephropathic1 test
Cystinuria1 test
Cystinuria type A1 test
Cystinuria type B1 test
Cystinuria, type a/b1 test
DNA ligase IV deficiency1 test
De Lange syndrome3 tests
Dent disease type 11 test
Dentinogenesis imperfecta1 test
Diabetes insipidus, neurohypophyseal, X-linked1 test
Distal arthrogryposis2 tests
Distal arthrogryposis type 2B11 test
Distal myopathy1 test
Distal myopathy with anterior tibial onset1 test
Distal myopathy, Tateyama type1 test
Distal renal tubular acidosis1 test
Duane retraction syndrome1 test
Duane-radial ray syndrome1 test
Duchenne muscular dystrophy1 test
EAST syndrome1 test
Early infantile epileptic encephalopathy with suppression bursts2 tests
Ehlers-Danlos syndrome2 tests
Ehlers-Danlos syndrome, classic type1 test
Ehlers-Danlos syndrome, type 31 test
Ehlers-Danlos syndrome, type 42 tests
Ehlers-Danlos syndrome, type 4 variant1 test
Eichsfeld type congenital muscular dystrophy1 test
Epilepsy, familial focal, with variable foci 11 test
Epilepsy, familial temporal lobe, 11 test
Facial nerve disorder1 test
Familial hyperaldosteronism2 tests
Familial hyperaldosteronism type II1 test
Familial hyperaldosteronism type III1 test
Familial hypocalciuric hypercalcemia1 test
Familial hypocalciuric hypercalcemia 11 test
Familial hypocalciuric hypercalcemia 21 test
Familial hypocalciuric hypercalcemia 31 test
Familial hypokalemia-hypomagnesemia2 tests
Familial idiopathic steroid-resistant nephrotic syndrome2 tests
Familial juvenile hyperuricemic nephropathy type 21 test
Familial medullary thyroid carcinoma1 test
Familial partial epilepsy1 test
Familial partial lipodystrophy1 test
Familial partial lipodystrophy, Dunnigan type2 tests
Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis1 test
Familial steroid-resistant nephrotic syndrome with sensorineural deafness2 tests
Familial thoracic aortic aneurysm and aortic dissection2 tests
Fanconi anemia1 test
Fetal akinesia deformation sequence 12 tests
Finnish congenital nephrotic syndrome1 test
Focal segmental glomerulosclerosis2 tests
Focal segmental glomerulosclerosis 11 test
Focal segmental glomerulosclerosis 21 test
Focal segmental glomerulosclerosis 4, susceptibility to1 test
Focal segmental glomerulosclerosis 51 test
Focal segmental glomerulosclerosis 61 test
Focal segmental glomerulosclerosis 91 test
Foveal hypoplasia 11 test
Freeman-Sheldon syndrome1 test
Fumarase deficiency1 test
Galloway-Mowat syndrome2 tests
Galloway-Mowat syndrome 11 test
Galloway-Mowat syndrome 31 test
Generalized epilepsy with febrile seizures plus1 test
Generalized myoclonic-atonic seizure1 test
Genetic glomerular disease1 test
Genetic hypertension1 test
Genetic interstitial lung disease1 test
Genetic lipodystrophy1 test
Genetic neuromuscular disease1 test
Glucocorticoid-remediable aldosteronism1 test
Gnathodiaphyseal dysplasia1 test
Gordon syndrome1 test
Hecht syndrome1 test
Hemolytic uremic syndrome, atypical, susceptibility to, 11 test
Hemolytic uremic syndrome, atypical, susceptibility to, 71 test
Hereditary Nephrotic Syndromes, Autosomal Recessive1 test
Hereditary Paraganglioma-Pheochromacytoma Syndrome1 test
Hereditary amyloidosis1 test
Hereditary leiomyomatosis and renal cell cancer1 test
Hereditary pancreatitis1 test
Hereditary pheochromocytoma-paraganglioma2 tests
Hereditary spastic paraplegia1 test
High bone mass osteogenesis imperfecta1 test
Homocystinuria, cblD type, variant 11 test
Horizontal gaze palsy with progressive scoliosis1 test
Hypercalcemia, infantile, 11 test
Hypercalcemia, infantile, 21 test
Hypertensive disorder1 test
Hypertrophic cardiomyopathy 11 test
Hypocalcemia, autosomal dominant, with bartter syndrome1 test
Hypochondroplasia1 test
Hypogonadotropic hypogonadism 2 with or without anosmia1 test
Hypophosphatasia1 test
Hypophosphatemic rickets1 test
Idiopathic juvenile osteoporosis2 tests
Immunoglobulin-mediated membranoproliferative glomerulonephritis1 test
Infantile nephronophthisis1 test
Infantile-onset X-linked spinal muscular atrophy1 test
Infantile-onset ascending hereditary spastic paralysis1 test
Infantile-onset periodic fever-panniculitis-dermatosis syndrome1 test
Inherited renal tubular disease1 test
Intellectual disability1 test
Intellectual disability, autosomal dominant 141 test
Intellectual disability, autosomal dominant 151 test
Intellectual disability, autosomal dominant 161 test
Isolated sulfite oxidase deficiency1 test
Jeune thoracic dystrophy1 test
Joubert syndrome1 test
Juvenile amyotrophic lateral sclerosis1 test
Juvenile nephropathic cystinosis1 test
Juvenile primary lateral sclerosis1 test
Kabuki syndrome1 test
Kabuki syndrome 11 test
Kabuki syndrome 21 test
Karyomegalic interstitial nephritis1 test
Keppen-Lubinsky syndrome1 test
LAMB2-related infantile-onset nephrotic syndrome1 test
LIPE-related familial partial lipodystrophy1 test
Leiomyoma of vulva and esophagus1 test
Lesch-Nyhan syndrome1 test
Lethal multiple pterygium syndrome1 test
Levy-Hollister syndrome1 test
Liddle syndrome 11 test
Limb-girdle muscular dystrophy3 tests
Limb-girdle muscular dystrophy due to POMK deficiency1 test
Loeys-Dietz syndrome2 tests
Loeys-Dietz syndrome 11 test
Loeys-Dietz syndrome 21 test
Loeys-Dietz syndrome 41 test
MEGF10-Related Myopathy1 test
MYH7-related late-onset scapuloperoneal muscular dystrophy1 test
MYH9-related disorder1 test
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss1 test
Malignant migrating partial seizures of infancy1 test
Mandibular hypoplasia-deafness-progeroid syndrome1 test
Mandibuloacral dysplasia with type B lipodystrophy1 test
Marfan syndrome2 tests
Maturity onset diabetes mellitus in young1 test
Maturity-onset diabetes of the young type 11 test
Maturity-onset diabetes of the young type 21 test
Maturity-onset diabetes of the young type 31 test
Meacham syndrome1 test
Meckel-Gruber syndrome1 test
Methylmalonic acidemia with homocystinuria cblC2 tests
Methylmalonic aciduria and homocystinuria type cblD1 test
Microangiopathic hemolytic anemia1 test
Microcephalic osteodysplastic primordial dwarfism type II1 test
Microcephaly 3, primary, autosomal recessive1 test
Microcephaly, normal intelligence and immunodeficiency1 test
Mitochondrial DNA depletion syndrome 4b1 test
Mitochondrial non-syndromic sensorineural hearing loss1 test
Miyoshi muscular dystrophy 11 test
Miyoshi muscular dystrophy 31 test
Monogenic Non-Syndromic Obesity, Autosomal Recessive1 test
Mosaic variegated aneuploidy syndrome1 test
Mosaic variegated aneuploidy syndrome 11 test
Mosaic variegated aneuploidy syndrome 31 test
Motor neuron disease1 test
Mucopolysaccharidosis1 test
Muenke syndrome1 test
Multiple endocrine neoplasia1 test
Multiple endocrine neoplasia type 41 test
Multiple endocrine neoplasia, type 11 test
Multiple endocrine neoplasia, type 21 test
Multiple endocrine neoplasia, type 2a1 test
Multiple endocrine neoplasia, type 2b1 test
Multiple fibrofolliculomas2 tests
Muscular dystrophy2 tests
Muscular dystrophy, limb-girdle, autosomal dominant1 test
Muscular dystrophy-dystroglycanopathy2 tests
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A131 test
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A141 test
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A21 test
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A61 test
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 101 test
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 111 test
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 121 test
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 71 test
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 81 test
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B11 test
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B141 test
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B21 test
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B31 test
Muscular dystrophy-dystroglycanopathy (congenital without impaired intellectual development), type B, 51 test
Myopathy, areflexia, respiratory distress, and dysphagia, early-onset, mild variant1 test
Myopathy, myosin storage, autosomal recessive1 test
Myosin storage myopathy1 test
Myotonic syndrome1 test
Nail-patella syndrome1 test
Neonatal Marfan syndrome1 test
Nephroblastoma1 test
Nephrocalcinosis1 test
Nephrogenic diabetes insipidus2 tests
Nephrolithiasis1 test
Nephronophthisis2 tests
Nephronophthisis 11 test
Nephronophthisis 31 test
Nephropathic cystinosis1 test
Nephrotic syndrome1 test
Nephrotic syndrome, type 21 test
Nephrotic syndrome, type 31 test
Nephrotic syndrome, type 61 test
Nephrotic syndrome, type 81 test
Nephrotic syndrome, type 92 tests
Nestor-Guillermo progeria syndrome1 test
Neurohypophyseal diabetes insipidus1 test
Nicolaides-Baraitser syndrome2 tests
Nijmegen breakage syndrome-like disorder1 test
Nonpapillary renal cell carcinoma1 test
Noonan syndrome2 tests
Obesity due to pro-opiomelanocortin deficiency2 tests
Ocular cystinosis1 test
Optic nerve hypoplasia, bilateral1 test
Oromandibular-limb hypogenesis spectrum1 test
Osteodysplastic primordial dwarfism, type 11 test
Osteogenesis imperfecta3 tests
Osteogenesis imperfecta type 101 test
Osteogenesis imperfecta type 111 test
Osteogenesis imperfecta type 121 test
Osteogenesis imperfecta type 131 test
Osteogenesis imperfecta type 141 test
Osteogenesis imperfecta type 151 test
Osteogenesis imperfecta type 171 test
Osteogenesis imperfecta type 52 tests
Osteogenesis imperfecta type 61 test
Osteogenesis imperfecta type 71 test
Osteogenesis imperfecta type 81 test
Osteogenesis imperfecta type 91 test
Osteogenesis imperfecta type I1 test
Osteogenesis imperfecta type III1 test
Osteogenesis imperfecta with normal sclerae, dominant form1 test
Osteogenesis imperfecta, recessive perinatal lethal1 test
Osteoporosis with pseudoglioma2 tests
PLIN1-related familial partial lipodystrophy1 test
POLG-related disorders1 test
PPARG-related familial partial lipodystrophy2 tests
Paraganglioma1 test
Paragangliomas 11 test
Paragangliomas 21 test
Paragangliomas 31 test
Paragangliomas 41 test
Paragangliomas 51 test
Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome1 test
Pendred syndrome1 test
Perlman syndrome1 test
Peroxisome biogenesis disorder1 test
Peroxisome biogenesis disorder 1A (Zellweger)1 test
Pfeiffer syndrome2 tests
Pheochromocytoma2 tests
Pierson syndrome2 tests
Pleuropulmonary blastoma1 test
Polycystic kidney disease 21 test
Polycystic kidney disease 3 with or without polycystic liver disease1 test
Polycystic kidney disease 51 test
Polycystic kidney disease 6 with or without polycystic liver disease1 test
Polycystic kidney disease, adult type1 test
Polycystic liver disease 4 with or without kidney cysts1 test
Pontocerebellar hypoplasia type 2A1 test
Pontocerebellar hypoplasia type 2B1 test
Pontocerebellar hypoplasia type 2C1 test
Pontocerebellar hypoplasia type 2D1 test
Pontocerebellar hypoplasia type 41 test
Pontocerebellar hypoplasia type 51 test
Pontocerebellar hypoplasia type 61 test
Pontoneocerebellar hypoplasia1 test
Porphobilinogen synthase deficiency1 test
Postmenopausal osteoporosis1 test
Primary Autosomal Recessive Microcephalies and Seckel Syndrome Spectrum Disorders1 test
Primary ciliary dyskinesia1 test
Primary familial hypertrophic cardiomyopathy1 test
Primary hyperoxaluria4 tests
Primary hyperoxaluria type 31 test
Primary hyperoxaluria, type I1 test
Primary hyperoxaluria, type II1 test
Progeroid features-hepatocellular carcinoma predisposition syndrome1 test
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 11 test
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 21 test
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 31 test
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 11 test
Progressive sclerosing poliodystrophy1 test
Proteasome-associated autoinflammatory syndrome 11 test
Pseudohypoaldosteronism1 test
Pseudohypoaldosteronism type 11 test
Pseudohypoaldosteronism type 2A1 test
Pseudohypoaldosteronism type 2B1 test
Pseudohypoaldosteronism type 2C1 test
Pseudohypoaldosteronism type 2D1 test
Pseudohypoaldosteronism type 2E1 test
Pulmonary hypertension, primary, 11 test
Pulmonary veno-occlusive disease and/or pulmonary capillary haemangiomatosis1 test
Rare genetic epilepsy1 test
Rare genetic renal disease1 test
Renal cell carcinoma, papillary, 11 test
Renal coloboma syndrome4 tests
Renal cysts and diabetes syndrome5 tests
Renal hypodysplasia/aplasia 11 test
Renal hypomagnesemia 5 with ocular involvement1 test
Renal neoplasm1 test
Renal tubular dysgenesis2 tests
Rett syndrome1 test
Rippling muscle disease 21 test
SHORT syndrome1 test
Saethre-Chotzen syndrome2 tests
Schaaf-Yang syndrome1 test
Schimke immuno-osseous dysplasia2 tests
Seckel syndrome2 tests
Seckel syndrome 11 test
Seckel syndrome 21 test
Seckel syndrome 41 test
Seckel syndrome 51 test
Seckel syndrome 71 test
Seckel syndrome 81 test
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis1 test
Severe myoclonic epilepsy in infancy1 test
Severe short stature1 test
Short rib-polydactyly syndrome1 test
Short stature, microcephaly, and endocrine dysfunction1 test
Spinal muscular atrophy2 tests
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A1 test
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B1 test
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C1 test
Syndromic X-linked intellectual disability Najm type1 test
TARDBP-related frontotemporal dementia1 test
TWIST1-related craniosynostosis1 test
Thanatophoric dysplasia type 11 test
Thrombotic thrombocytopenic purpura1 test
Tuberous sclerosis 11 test
Tuberous sclerosis 21 test
Tubulointerstitial kidney disease, autosomal dominant, 21 test
Ullrich congenital muscular dystrophy1 test
Ullrich congenital muscular dystrophy 12 tests
Undetermined early-onset epileptic encephalopathy1 test
Upshaw-Schulman syndrome1 test
Van Maldergem syndrome1 test
Ventriculomegaly-cystic kidney disease1 test
Vitamin B12-responsive methylmalonic acidemia, type cblDv21 test
Von Hippel-Lindau syndrome3 tests
WT1-Related Disorders1 test
Werdnig-Hoffmann disease1 test
Wilms tumor 11 test
X-linked Alport syndrome1 test
X-linked diffuse leiomyomatosis-Alport syndrome1 test
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