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Department of Clinical Genetics (Copenhagen University Hospital, Rigshospitalet), MGL_KC

General information

Department of Clinical Genetics, MGL_KC
Copenhagen University Hospital, Rigshospitalet
Glostrup
Hovedstaden
Denmark - DK-2600
http://www.rigshospitalet.dk/
Organization ID: 1147

Personnel

View this laboratory in GTR

Assertion criteria

Level: Assertion criteria provided

Summary of submissions to ClinVar

Total submissions: 915

Gene

GeneSubmissionsLast Updated
ABCA479Dec 5, 2018
ACO21May 2, 2022
ACTB1May 2, 2022
ACVRL11May 2, 2022
ADCY51May 2, 2022
ADGRA31Dec 5, 2018
ADGRV12Dec 5, 2018
ADPRS2May 2, 2022
AIPL15Dec 5, 2018
ALMS11Dec 5, 2018
ANKRD117May 2, 2022
APC1Jun 22, 2023
AQP21May 2, 2022
AQP5-AS11May 2, 2022
ARID1B2May 2, 2022
ARID21May 2, 2022
ASPM1May 2, 2022
ASXL31May 2, 2022
ATM3Mar 21, 2024
B4GALT72May 2, 2022
B9D11May 2, 2022
BAP11Jun 27, 2023
BBS18Dec 5, 2018
BBS102Dec 5, 2018
BBS122Dec 5, 2018
BBS24Dec 5, 2018
BBS41Dec 5, 2018
BBS51Dec 5, 2018
BBS71Dec 5, 2018
BBS92Dec 5, 2018
BCL11A1May 2, 2022
BCOR1May 2, 2022
BEST119Dec 5, 2018
BICD21May 2, 2022
BLOC1S1-RDH51Dec 5, 2018
BMPR1B1May 2, 2022
BMPR21May 2, 2022
BRCA154May 27, 2024
BRCA273May 27, 2024
C10orf1051Dec 5, 2018
CA41Dec 5, 2018
CABP45Dec 5, 2018
CACNA1A1Oct 5, 2022
CACNA1F7Dec 5, 2018
CACNA2D41Dec 5, 2018
CACNG21May 2, 2022
CAMTA11May 2, 2022
CAPN31May 6, 2020
CCDC221May 2, 2022
CDH237Dec 5, 2018
CDH23-AS11Dec 5, 2018
CDH31Dec 5, 2018
CDH3-AS11Dec 5, 2018
CDHR13Dec 5, 2018
CDK131May 2, 2022
CEP1521May 2, 2022
CEP2909Dec 5, 2018
CERKL4Dec 5, 2018
CHD81May 2, 2022
CHM2Dec 5, 2018
CHRNG2May 2, 2022
CLCN42May 2, 2022
CLRN11Dec 5, 2018
CNGA13Dec 5, 2018
CNGB111Dec 5, 2018
CNGB37Dec 5, 2018
CNKSR22May 2, 2022
CNNM41Dec 5, 2018
CNPY21May 2, 2022
CNTNAP12May 2, 2022
COL11A11May 2, 2022
COL12A11May 2, 2022
COL1A11May 2, 2022
COL27A11May 2, 2022
COL2A11May 2, 2022
COL4A12May 2, 2022
COL4A22May 2, 2022
COL4A2-AS21May 2, 2022
COL4A51May 2, 2022
COL6A11Feb 15, 2023
COL6A21May 2, 2022
COL6A31May 2, 2022
COMP1May 2, 2022
COQ42May 2, 2022
CRB117Dec 5, 2018
CREBBP3May 2, 2022
CRX7Dec 5, 2018
CUL4B1May 2, 2022
DCAF171May 2, 2022
DMAP12May 2, 2022
DNMT11May 2, 2022
DOCK61May 2, 2022
DONSON1May 2, 2022
DSPP1May 2, 2022
ECEL11May 2, 2022
EDA1May 2, 2022
EHMT11May 2, 2022
ELN1May 2, 2022
EPG52May 2, 2022
EYS28Dec 5, 2018
FAM161A4Dec 5, 2018
FBXO112May 2, 2022
FBXO71May 2, 2022
FGD11May 2, 2022
FLNA2May 2, 2022
FLVCR12May 2, 2022
FOXP12May 2, 2022
FRAS12May 2, 2022
GAN1May 2, 2022
GDF61May 2, 2022
GLI32May 2, 2022
GNAS1May 2, 2022
GNAT11Dec 5, 2018
GOSR22Feb 16, 2021
GPHN5Dec 5, 2018
GPR1792Dec 5, 2018
GRIN2A1May 2, 2022
GRIN2B1May 2, 2022
GRK11Dec 5, 2018
GRM64Dec 5, 2018
GUCA1A2Dec 5, 2018
GUCA1ANB-GUCA1A2Dec 5, 2018
GUCY2D6May 2, 2022
H1-41May 2, 2022
HARS25May 20, 2019
HEXB1May 2, 2022
HMGA21May 2, 2022
HNF4A1May 2, 2022
HSPG22May 2, 2022
HUWE11May 2, 2022
HYCC11May 2, 2022
IDH3A1May 2, 2022
IDH3B1Dec 5, 2018
IDUA1May 2, 2022
IGF21May 2, 2022
IMPA11May 2, 2022
IMPDH14Dec 5, 2018
IMPG23Dec 5, 2018
INS-IGF21May 2, 2022
IQCB12Dec 5, 2018
IRF2BPL1May 2, 2022
JMJD81May 2, 2022
KARS12May 2, 2022
KAT6B1May 2, 2022
KCNT21May 2, 2022
KCNV22Dec 5, 2018
KDM5C1May 2, 2022
KDM6A1May 2, 2022
KIF111May 2, 2022
KMT2A3May 2, 2022
KMT2B1May 2, 2022
KMT2C1May 2, 2022
KMT2D1May 2, 2022
KMT5B1May 2, 2022
LAMP21May 2, 2022
LETM11May 2, 2022
LINS11May 2, 2022
LOC1005062351May 2, 2022
LOC1019271573Dec 5, 2018
LOC1118285171Dec 5, 2018
LOC1217406381May 2, 2022
LOC1221522961Dec 5, 2018
LOC12680579310Dec 5, 2018
LOC1268057941Dec 5, 2018
LOC1268071251May 2, 2022
LOC1268603921Dec 5, 2018
LOC1268607361May 2, 2022
LOC1268612421May 2, 2022
LOC1268615201May 2, 2022
LOC12686257115May 27, 2024
LOC1268625781Feb 16, 2021
LOC1300030791May 2, 2022
LOC1300627941May 2, 2022
LOC1300680981Dec 5, 2018
LOC1300682022Dec 5, 2018
LOX2May 2, 2022
LRAT1Dec 5, 2018
LRRC37A22Feb 16, 2021
MAK2Dec 5, 2018
MAN1B11May 2, 2022
MAST11May 2, 2022
MCOLN12May 2, 2022
MEA11May 2, 2022
MECP21May 2, 2022
MED13L1May 2, 2022
MERTK8Dec 5, 2018
MKKS3Dec 5, 2018
MKS12Dec 5, 2018
MMP131May 2, 2022
MRPL391Mar 24, 2022
MSH22May 27, 2024
MSX21May 2, 2022
MT-TE1Jan 13, 2021
MYCN1May 2, 2022
MYCNOS1May 2, 2022
MYH32May 2, 2022
MYLK1Jun 22, 2023
MYO7A7Dec 5, 2018
NAA151May 2, 2022
NDUFA82May 2, 2022
NDUFV12May 2, 2022
NEB1May 2, 2022
NOD21May 2, 2022
NONO1May 2, 2022
NOTCH21Jan 22, 2019
NPHP11May 2, 2022
NPHP31May 2, 2022
NPHP3-ACAD111May 2, 2022
NPHP3-AS11May 2, 2022
NR2E37Dec 5, 2018
NSD21May 2, 2022
OTOA1May 2, 2022
PACS21May 2, 2022
PBX11May 2, 2022
PCARE3Dec 5, 2018
PCDH121May 2, 2022
PCDH152Dec 5, 2018
PDE6A9Dec 5, 2018
PDE6B11Dec 5, 2018
PDE6B-AS11Dec 5, 2018
PDGFB1May 2, 2022
PHF34Dec 5, 2018
PIK3CA1May 2, 2022
PIK3R12Jun 13, 2022
PITPNM32Dec 5, 2018
PMS22May 27, 2024
POLR2F7May 5, 2021
POLR3H1May 2, 2022
POU3F31Oct 27, 2022
PPP1R12A1May 2, 2022
PPP2CA1May 2, 2022
PPP2R5D1May 2, 2022
PRMT71May 2, 2022
PROM16Dec 5, 2018
PRPF3115Dec 5, 2018
PRPF31-AS15Dec 5, 2018
PRPF81Dec 5, 2018
PRPH218Dec 5, 2018
PSMD121May 2, 2022
PTEN1Jun 22, 2023
PTPN111May 2, 2022
PURA1May 2, 2022
RAB281Dec 5, 2018
RAB39B1May 2, 2022
RAI13May 2, 2022
RDH125Dec 5, 2018
RDH51Dec 5, 2018
RGS91Dec 5, 2018
RHO13Dec 5, 2018
RIF11May 2, 2022
RLBP11Dec 5, 2018
RNF141May 2, 2022
ROM11Dec 5, 2018
ROR22May 2, 2022
RP115Dec 5, 2018
RP26Dec 5, 2018
RPE654Dec 5, 2018
RPGR13Dec 5, 2018
RPGRIP11Dec 5, 2018
RYR11May 2, 2022
SACS1May 2, 2022
SAG1Dec 5, 2018
SALL13May 2, 2022
SASS61May 2, 2022
SC5D2May 2, 2022
SCN8A1May 2, 2022
SCUBE31May 2, 2022
SETD21May 2, 2022
SETD53May 2, 2022
SKI1May 2, 2022
SLC25A462May 2, 2022
SLC34A11May 2, 2022
SLC39A82May 2, 2022
SLC52A21May 2, 2022
SMC1A1May 2, 2022
SMOC21May 2, 2022
SNHG141May 2, 2022
SNRNP2002Dec 5, 2018
SOX107May 5, 2021
SOX21May 2, 2022
SOX2-OT1May 2, 2022
SOX31Oct 16, 2017
SPTAN11May 2, 2022
SRFBP12May 2, 2022
ST3GAL51May 2, 2022
STIL2May 2, 2022
STIM11May 2, 2022
STRA61May 2, 2022
STUB11May 2, 2022
SZT21May 2, 2022
TAF11May 2, 2022
TAFAZZIN1May 2, 2022
TARS29May 2, 2022
TBL1XR11May 2, 2022
TCF202May 2, 2022
TCF42May 2, 2022
TFAP2A1May 2, 2022
TFAP2A-AS21May 2, 2022
TOPORS2Dec 5, 2018
TP531Oct 27, 2023
TRAF71May 2, 2022
TRIO3May 2, 2022
TRPM12Dec 5, 2018
TSC22May 2, 2022
TTC83Dec 5, 2018
TUBB2B1May 2, 2022
TUBB31May 2, 2022
TULP13Dec 5, 2018
TWNK1May 2, 2022
TXNL4A2May 2, 2022
UBAP11May 2, 2022
UBE3A1May 2, 2022
UGT1A2May 2, 2022
UGT1A12May 2, 2022
UGT1A102May 2, 2022
UGT1A32May 2, 2022
UGT1A42May 2, 2022
UGT1A52May 2, 2022
UGT1A62May 2, 2022
UGT1A72May 2, 2022
UGT1A82May 2, 2022
UGT1A92May 2, 2022
USH1C1Dec 5, 2018
USH2A55Oct 25, 2021
USH2A-AS13Dec 5, 2018
USH2A-AS27Dec 5, 2018
VLDLR1May 2, 2022
WAC1May 2, 2022
WDR261May 2, 2022
WDR622May 2, 2022
WHRN1Dec 5, 2018
YARS11May 2, 2022
YY11May 2, 2022
YY1AP11May 2, 2022
ZBTB181May 2, 2022
ZDHHC248Dec 5, 2018
ZEB21Sep 1, 2023
ZFYVE261Dec 5, 2018
ZMYND111May 2, 2022
ZNF1422May 2, 2022
ZNF411May 2, 2022
ZNF4542Dec 5, 2018
ZNF4691May 2, 2022

Condition

NameSubmissionsLast Updated
3-Methylglutaconic aciduria type 21May 2, 2022
Aarskog syndrome1May 2, 2022
Abnormal facial shape4May 2, 2022
Abnormal retinal morphology1May 2, 2022
Abnormality of the face2May 2, 2022
Achromatopsia6Dec 5, 2018
Acromesomelic dysplasia 31May 2, 2022
Adams-Oliver syndrome 21May 2, 2022
Angelman syndrome1May 2, 2022
Anophthalmia/microphthalmia-esophageal atresia syndrome1May 2, 2022
Aortic aneurysm, familial thoracic 102May 2, 2022
Ataxia-telangiectasia syndrome3Mar 21, 2024
Autism1May 2, 2022
Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures1May 2, 2022
Autosomal recessive Robinow syndrome2May 2, 2022
Autosomal recessive multiple pterygium syndrome2May 2, 2022
Autosomal recessive nonsyndromic hearing loss 221May 2, 2022
Autosomal recessive spinocerebellar ataxia 161May 2, 2022
BAP1-related tumor predisposition syndrome1Jun 27, 2023
Baraitser-Winter syndrome 11May 2, 2022
Bardet-Biedl syndrome7Dec 5, 2018
Basal ganglia calcification, idiopathic, 51May 2, 2022
Bethlem myopathy 1A1May 2, 2022
Bethlem myopathy 21May 2, 2022
Bietti crystalline corneoretinal dystrophy2Dec 5, 2018
Blau syndrome1May 2, 2022
Brain small vessel disease 1 with or without ocular anomalies2May 2, 2022
Branchiooculofacial syndrome1May 2, 2022
Breast-ovarian cancer, familial, susceptibility to, 154May 27, 2024
Breast-ovarian cancer, familial, susceptibility to, 270May 27, 2024
Brittle cornea syndrome 11May 2, 2022
Brown-Vialetto-van Laere syndrome 21May 2, 2022
CLOVES syndrome2May 2, 2022
Cardiac anomalies - developmental delay - facial dysmorphism syndrome1May 2, 2022
Cardiac, facial, and digital anomalies with developmental delay1May 2, 2022
Central core myopathy1May 2, 2022
Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 11May 2, 2022
Cerebellar dysfunction with variable cognitive and behavioral abnormalities1May 2, 2022
Charcot-Marie-Tooth disease dominant intermediate C1May 2, 2022
Charlevoix-Saguenay spastic ataxia1May 2, 2022
Choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome2May 2, 2022
Coffin-Siris syndrome 12May 2, 2022
Coffin-Siris syndrome 61May 2, 2022
Cognitive impairment with or without cerebellar ataxia1May 2, 2022
Combined oxidative phosphorylation defect type 218Jun 17, 2021
Complex cortical dysplasia with other brain malformations 11May 2, 2022
Complex cortical dysplasia with other brain malformations 71May 2, 2022
Cone-rod dystrophy19Dec 5, 2018
Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay1May 2, 2022
Congenital blindness1May 2, 2022
Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder1May 2, 2022
Congenital muscular hypertrophy-cerebral syndrome1May 2, 2022
Congenital stationary night blindness6Dec 5, 2018
Craniosynostosis 21May 2, 2022
Craniosynostosis syndrome1May 2, 2022
Cutis laxa, autosomal dominant 11May 2, 2022
Danon disease1May 2, 2022
DeSanto-Shinawi syndrome due to WAC point mutation1May 2, 2022
Deafness dystonia syndrome4Nov 3, 2021
Dentin dysplasia type I1May 2, 2022
Dentinogenesis imperfecta type 31May 2, 2022
Developmental and epileptic encephalopathy, 181May 2, 2022
Developmental and epileptic encephalopathy, 51May 2, 2022
Developmental and epileptic encephalopathy, 571May 2, 2022
Developmental and epileptic encephalopathy, 661May 2, 2022
Developmental delay with variable intellectual impairment and behavioral abnormalities2May 2, 2022
Diabetes insipidus, nephrogenic, autosomal1May 2, 2022
Dias-Logan syndrome1May 2, 2022
Diencephalic-mesencephalic junction dysplasia syndrome 11May 2, 2022
Distal arthrogryposis2May 2, 2022
Distal arthrogryposis type 5D1May 2, 2022
Dyskinesia with orofacial involvement, autosomal dominant1May 2, 2022
Dystonia 28, childhood-onset1May 2, 2022
Ehlers-Danlos syndrome, spondylodysplastic type, 12May 2, 2022
Episodic ataxia type 21Oct 5, 2022
Failure to thrive1May 2, 2022
Familial multiple polyposis syndrome1Jun 22, 2023
Familial thoracic aortic aneurysm and aortic dissection1Jun 22, 2023
Feingold syndrome type 11May 2, 2022
Fraser syndrome 12May 2, 2022
GM3 synthase deficiency1May 2, 2022
Gabriele de Vries syndrome1May 2, 2022
Genitopatellar syndrome1May 2, 2022
Genitourinary and/or brain malformation syndrome1May 2, 2022
Giant axonal neuropathy 11May 2, 2022
Gilbert syndrome2May 2, 2022
Global developmental delay4May 2, 2022
Grange syndrome1May 2, 2022
Hajdu-Cheney syndrome1Jan 22, 2019
Hereditary cancer-predisposing syndrome3Mar 21, 2024
Hogue-Janssens syndrome 11May 2, 2022
Houge-Janssens syndrome 31May 2, 2022
Hurler syndrome1May 2, 2022
Hypercalcemia, infantile, 21May 2, 2022
Hypohidrotic X-linked ectodermal dysplasia1May 2, 2022
Hypomyelination and Congenital Cataract1May 2, 2022
Infantile cerebellar-retinal degeneration1May 2, 2022
Intellectual developmental disorder with autism and macrocephaly1May 2, 2022
Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities2May 2, 2022
Intellectual developmental disorder, autosomal dominant 63, with macrocephaly2May 2, 2022
Intellectual disability3May 2, 2022
Intellectual disability, X-linked 492May 2, 2022
Intellectual disability, X-linked 721May 2, 2022
Intellectual disability, X-linked syndromic, Turner type1May 2, 2022
Intellectual disability, X-linked, syndromic 331May 2, 2022
Intellectual disability, X-linked, syndromic, Houge type2May 2, 2022
Intellectual disability, X-linked, with panhypopituitarism1Oct 16, 2017
Intellectual disability, autosomal dominant 101May 2, 2022
Intellectual disability, autosomal dominant 221May 2, 2022
Intellectual disability, autosomal dominant 301May 2, 2022
Intellectual disability, autosomal dominant 411May 2, 2022
Intellectual disability, autosomal dominant 501May 2, 2022
Intellectual disability, autosomal dominant 511May 2, 2022
Intellectual disability, autosomal dominant 61May 2, 2022
Intellectual disability, autosomal recessive 271May 2, 2022
Intellectual disability, autosomal recessive 591May 2, 2022
Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency3May 2, 2022
Intellectual disability-severe speech delay-mild dysmorphism syndrome2May 2, 2022
Isolated focal cortical dysplasia type II1May 2, 2022
Joubert syndrome 271May 2, 2022
KBG syndrome7May 2, 2022
Kabuki syndrome 11May 2, 2022
Kabuki syndrome 21May 2, 2022
Kleefstra syndrome 11May 2, 2022
Kleefstra syndrome 21May 2, 2022
Klippel-Feil syndrome 1, autosomal dominant1May 2, 2022
Landau-Kleffner syndrome1May 2, 2022
Lathosterolosis2May 2, 2022
Leber congenital amaurosis23Dec 5, 2018
Leber congenital amaurosis 11May 2, 2022
Lethal congenital contracture syndrome 72May 2, 2022
Leukoencephalopathy, progressive, infantile-onset, with or without deafness1May 2, 2022
Li-Fraumeni syndrome1Oct 27, 2023
Luscan-Lumish syndrome1May 2, 2022
Lynch syndrome4May 27, 2024
Macular dystrophy32Dec 5, 2018
Matthew-Wood syndrome1May 2, 2022
Maturity-onset diabetes of the young type 11May 2, 2022
Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations1May 2, 2022
Melnick-Needles syndrome1May 2, 2022
Metachondromatosis1May 2, 2022
Microcephaly1May 2, 2022
Microcephaly 14, primary, autosomal recessive1May 2, 2022
Microcephaly 2, primary, autosomal recessive, with or without cortical malformations2May 2, 2022
Microcephaly 5, primary, autosomal recessive1May 2, 2022
Microcephaly 7, primary, autosomal recessive2May 2, 2022
Microcephaly 9, primary, autosomal recessive1May 2, 2022
Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability1May 2, 2022
Microcephaly, short stature, and limb abnormalities1May 2, 2022
Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome1May 2, 2022
Mitochondrial complex 1 deficiency, nuclear type 372May 2, 2022
Mitochondrial complex 1 deficiency, nuclear type 42May 2, 2022
Mitochondrial disease1Mar 24, 2022
Mitochondrial myopathy with reversible cytochrome C oxidase deficiency1Jan 13, 2021
Mowat-Wilson syndrome1Sep 1, 2023
Mucolipidosis type IV2May 2, 2022
Multiple epiphyseal dysplasia type 11May 2, 2022
Muscular dystrophy, limb-girdle, autosomal dominant 41May 6, 2020
Myopathy, tubular aggregate, 11May 2, 2022
Nemaline myopathy 21May 2, 2022
Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome2May 2, 2022
Nephronophthisis 11May 2, 2022
Nephronophthisis 31May 2, 2022
Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures2May 2, 2022
Neurodevelopmental delay1May 2, 2022
Neurodevelopmental disorder with impaired speech and hyperkinetic movements2May 2, 2022
Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures1May 2, 2022
Neuropathy, hereditary motor and sensory, type 6B2May 2, 2022
Nystagmus1May 2, 2022
Ocular albinism, type II5Dec 5, 2018
Oculofaciocardiodental syndrome1May 2, 2022
Osteogenesis imperfecta type I1May 2, 2022
PTEN hamartoma tumor syndrome1Jun 22, 2023
PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome1May 2, 2022
Parkinsonian-pyramidal syndrome1May 2, 2022
Patent ductus arteriosus1May 2, 2022
Patterned macular dystrophy 11Dec 5, 2018
Perrault syndrome 25May 20, 2019
Pitt-Hopkins syndrome2May 2, 2022
Polydactyly, postaxial, type A12May 2, 2022
Porencephaly 22May 2, 2022
Progressive cone dystrophy (without rod involvement)13Dec 5, 2018
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 31May 2, 2022
Progressive myoclonic epilepsy type 62Feb 16, 2021
Pseudohypoparathyroidism type I A1May 2, 2022
Pulmonary hypertension, primary, 11May 2, 2022
Rafiq syndrome1May 2, 2022
Rahman syndrome1May 2, 2022
Rauch-Steindl syndrome1May 2, 2022
Retinal dystrophy22Dec 5, 2018
Retinal vascular dystrophy1Dec 5, 2018
Retinitis pigmentosa287Oct 25, 2021
Retinitis pigmentosa 901May 2, 2022
Rett syndrome1May 2, 2022
Ritscher-Schinzel syndrome 21May 2, 2022
Rubinstein-Taybi syndrome due to CREBBP mutations3May 2, 2022
SLC39A8-CDG2May 2, 2022
Sandhoff disease1May 2, 2022
Seizure4May 2, 2022
Sensory neuropathy1May 2, 2022
Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome1May 2, 2022
Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 21May 2, 2022
Short stature-brachydactyly-obesity-global developmental delay syndrome1May 2, 2022
Shprintzen-Goldberg syndrome1May 2, 2022
Silver-Russell syndrome 31May 2, 2022
Silver-Russell syndrome 51May 2, 2022
Skraban-Deardorff syndrome1May 2, 2022
Smith-Magenis syndrome3May 2, 2022
Snijders blok-fisher syndrome1Oct 27, 2022
Spastic hemiparesis1May 2, 2022
Spastic paraparesis1May 2, 2022
Spastic paraplegia 80, autosomal dominant1May 2, 2022
Spondyloepimetaphyseal dysplasia, Missouri type1May 2, 2022
Spondyloepiphyseal dysplasia, Stanescu type1May 2, 2022
Stankiewicz-Isidor syndrome1May 2, 2022
Stargardt disease51Dec 5, 2018
Steel syndrome1May 2, 2022
Syndromic X-linked intellectual disability 341May 2, 2022
Syndromic X-linked intellectual disability Claes-Jensen type1May 2, 2022
Telangiectasia, hereditary hemorrhagic, type 21May 2, 2022
Townes-Brocks syndrome 13May 2, 2022
Tuberous sclerosis 21May 2, 2022
Ullrich congenital muscular dystrophy 1A2Feb 15, 2023
Usher syndrome6Dec 5, 2018
Vascular Malformations and Overgrowth1Jun 13, 2022
Ventral hernia1May 2, 2022
Vici syndrome2May 2, 2022
Vitelliform macular dystrophy 211Dec 5, 2018
Vitreoretinopathy4Dec 5, 2018
Waardenburg syndrome type 17May 5, 2021
Wiedemann-Steiner syndrome3May 2, 2022
Woodhouse-Sakati syndrome1May 2, 2022
X-linked Alport syndrome1May 2, 2022
X-linked intellectual disability Cabezas type1May 2, 2022
not provided7Dec 5, 2018

Testing in GTR

Disease nameNumber of tests
11p partial monosomy syndrome1 test
6-Pyruvoyl-tetrahydrobiopterin synthase deficiency1 test
Aniridia 12 tests
Anophthalmia-microphthalmia syndrome1 test
Anophthalmia/microphthalmia-esophageal atresia syndrome1 test
Anterior segment anomalies with or without cataract1 test
Anterior segment dysgenesis 12 tests
Autosomal dominant optic atrophy classic form1 test
Autosomal recessive DOPA responsive dystonia1 test
Axenfeld-Rieger syndrome1 test
Axenfeld-Rieger syndrome type 13 tests
Axenfeld-Rieger syndrome type 33 tests
Beckwith-Wiedemann syndrome1 test
Brain small vessel disease 1 with or without ocular anomalies2 tests
Branchiooculofacial syndrome1 test
Cataract 231 test
Cornea plana 21 test
Cornelia de Lange syndrome 11 test
Cornelia de Lange syndrome 31 test
Cornelia de Lange syndrome 41 test
Cornelia de Lange syndrome 51 test
Dihydropteridine reductase deficiency1 test
Dopa-responsive dystonia due to sepiapterin reductase deficiency1 test
Early-onset generalized limb-onset dystonia1 test
Focal dermal hypoplasia2 tests
Focal segmental glomerulosclerosis 71 test
Frontonasal dysplasia - severe microphthalmia - severe facial clefting syndrome1 test
GTP cyclohydrolase I deficiency1 test
Glaucoma 1, open angle, A1 test
Glaucoma 3A1 test
Intellectual disability, X-linked, with or without seizures, arx-related1 test
Irido-corneo-trabecular dysgenesis2 tests
Leber congenital amaurosis 21 test
Linear skin defects with multiple congenital anomalies 11 test
Menkes kinky-hair syndrome1 test
Nance-Horan syndrome1 test
Oculocutaneous albinism1 test
Oculocutaneous albinism type 12 tests
Oculocutaneous albinism type 1B1 test
Oculocutaneous albinism type 32 tests
Oculocutaneous albinism type 42 tests
Oculocutaneous albinism type 51 test
Oculocutaneous albinism type 61 test
Oculocutaneous albinism type 71 test
Oculotrichoanal syndrome1 test
Optic atrophy1 test
Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy1 test
Pallister-Hall syndrome1 test
Peters plus syndrome2 tests
Phenylketonuria1 test
Pierson syndrome1 test
Primary Open Angle Glaucoma (Adult Onset)1 test
Russell-Silver syndrome1 test
Silver-Russell syndrome 12 tests
Silver-Russell syndrome due to an imprinting defect of 11p151 test
Syndromic microphthalmia1 test
Syndromic microphthalmia type 51 test
Torsion dystonia 61 test
Tuberous sclerosis 11 test
Tuberous sclerosis 21 test
Tyrosinase-negative oculocutaneous albinism1 test
Tyrosinase-positive oculocutaneous albinism2 tests
West syndrome1 test
Wilson disease1 test
X-linked lissencephaly with abnormal genitalia1 test