Clinical Molecular Genetics Laboratory (Johns Hopkins All Children's Hospital)

General information

Clinical Molecular Genetics Laboratory
Johns Hopkins All Children's Hospital
601 Fifth Street South
St. Petersburg
Florida
United States - 33701
https://www.hopkinsallchildrens.org/moleculargenetics
Organization ID: 1027

Personnel

View this laboratory in GTR

Assertion criteria

Level: Assertion criteria provided

Summary of submissions to ClinVar

Total submissions: 721

Gene

GeneSubmissionsLast Updated
A2ML11Aug 6, 2018
ACBD61Jan 31, 2018
ACTA21Jan 31, 2018
ACTC13Jul 17, 2018
ACTN22Jul 17, 2018
ALDH5A12Jul 17, 2018
ALDH7A13Jul 17, 2018
ANK22Jul 17, 2018
AR42Jan 31, 2018
ARHGEF94Feb 28, 2019
BAG31Jul 17, 2018
BRAF2Jul 17, 2018
BTK18Jan 31, 2018
CACNA1A2Feb 28, 2019
CACNA1C1Jul 17, 2018
CACNA1C-AS11Jul 17, 2018
CACNB21Jul 17, 2018
CASQ21Jul 17, 2018
CASR1Feb 28, 2019
CBS1Jan 31, 2018
CDKL52Jul 17, 2018
CFAP531Jul 17, 2018
CFTR13Apr 25, 2019
CFTR-AS11Jan 31, 2018
CHD72Jul 17, 2018
CHRNA15Feb 28, 2019
CHRNA21Jul 17, 2018
CHRNA42Feb 28, 2019
CITED21Jul 17, 2018
CLCN22Jul 17, 2018
COL1A11Jan 31, 2018
COL3A12Jan 31, 2018
COL5A14Jun 12, 2019
COL5A21Jan 31, 2018
COPA1Aug 2, 2019
CRELD11May 9, 2019
DEPDC51Nov 21, 2018
DES1Jan 10, 2019
DMD22Oct 4, 2018
DSC22Jul 17, 2018
DSG21Feb 28, 2019
DSP4Jul 17, 2018
EPM2A1Feb 28, 2019
FBN114Aug 12, 2019
FBN25Jan 31, 2018
FGFR36Jan 31, 2018
FLNA6Apr 8, 2019
FOLR11Feb 28, 2019
FOXRED12Jul 17, 2018
GAA1Feb 26, 2019
GABRA11Jul 17, 2018
GABRD1Jul 17, 2018
GABRG22Aug 12, 2019
GAD13Jul 17, 2018
GATM2Jul 17, 2018
GHR7Jan 31, 2018
GJB238Dec 7, 2018
GNAS3Jul 17, 2018
GOSR21Jul 17, 2018
GP92Mar 22, 2019
GPLD11Jul 17, 2018
GRIN2A2Jul 17, 2018
GRIN2B2Jul 17, 2018
HESX110Jan 31, 2018
HPS11Oct 22, 2018
HRAS2Jul 17, 2018
HSD17B313Jan 31, 2018
HSD17B3-AS18Jan 31, 2018
JPH21Jul 17, 2018
JUP1Jul 17, 2018
KCNE11Jul 17, 2018
KCNH22Jul 17, 2018
KCNJ23Jul 17, 2018
KCNQ19Dec 21, 2018
KCNQ23Jul 24, 2019
KCNQ31Feb 28, 2019
KCNT13Jun 7, 2019
KCTD71Jul 17, 2018
LAMA21Jul 17, 2018
LAMA43Jul 17, 2018
LHCGR7Aug 7, 2018
LHX32Jan 31, 2018
LHX42Jan 31, 2018
LHX4-AS11Jan 31, 2018
LMNA2Jul 17, 2018
LOC1014482021Jan 31, 2018
LOC1019281743Jul 17, 2018
LOC1027240582Jul 17, 2018
LOC1095047253Jan 31, 2018
LOC1116744721Jan 31, 2018
LOC1148278501Jul 17, 2018
LRRC37A21Jul 17, 2018
LRRC562Jul 17, 2018
MBD54Feb 28, 2019
MC2R11Jan 31, 2018
MC4R14May 18, 2018
MECP214Feb 28, 2019
MED121Jan 31, 2018
MHRT1Jul 17, 2018
MTM115Feb 28, 2019
MYBPC32Jul 17, 2018
MYH115Jan 31, 2018
MYH63Jul 17, 2018
MYH77Jul 17, 2018
MYL22Jul 17, 2018
MYLK2Jan 31, 2018
MYPN2Jul 17, 2018
NEXN2Jul 17, 2018
NF150Aug 19, 2019
NF22Jan 31, 2018
NHLH11Aug 2, 2019
NOTCH12Jul 17, 2018
NR0B113Nov 23, 2018
NSUN61Jul 17, 2018
PANK21Jul 17, 2018
PCDH194Jul 17, 2018
PDHB1Feb 28, 2019
PEX32May 23, 2019
PITX21Jan 31, 2018
PLOD11Apr 25, 2019
PMP226Feb 28, 2019
PNKP1Jul 17, 2018
POLG4Jul 17, 2018
POMT11Jul 17, 2018
POU1F12Jul 17, 2018
PPT15Jan 31, 2018
PRICKLE11Jul 17, 2018
PRICKLE21Feb 28, 2019
PRKAG22Jul 17, 2018
PRRT22Feb 28, 2019
PTEN11Sep 9, 2019
PTPN117Apr 1, 2019
RBM201Jul 17, 2018
RET11Feb 28, 2019
RIT12Jul 17, 2018
RYR11Jul 17, 2018
RYR25Jul 17, 2018
SCN1A5Jul 17, 2018
SCN1A-AS11Feb 28, 2019
SCN1B1Jul 24, 2019
SCN2A1Jul 17, 2018
SCN5A6May 21, 2019
SCN8A3Jun 7, 2019
SCN9A2Jul 24, 2019
SLC19A26Feb 28, 2019
SLC22A51Feb 28, 2019
SLC25A222Jul 17, 2018
SLC2A105Jan 31, 2018
SLC9A61May 15, 2019
SNHG145Jul 17, 2018
SOS11Jul 17, 2018
SPRED14May 23, 2019
SPTAN12Jul 17, 2018
SRD5A229Jul 26, 2018
SRY2Jan 31, 2018
ST3GAL32Jul 17, 2018
STON1-GTF2A1L7Aug 7, 2018
TAZ1Jul 17, 2018
TBC1D241Jul 17, 2018
TBX12Dec 6, 2018
TBX1912Feb 28, 2019
TGFB21Jan 31, 2018
TGFBR12Jan 31, 2018
TGFBR21Jan 31, 2018
THRB35Jul 3, 2018
TMEM431Mar 12, 2019
TNNI31Jul 17, 2018
TNNT22Feb 28, 2019
TOR1A1Jan 31, 2018
TPP15Jul 17, 2018
TSC11Feb 28, 2019
TSC26Aug 20, 2019
TTN7Mar 4, 2019
TTN-AS14Mar 4, 2019
UBE3A5Jul 17, 2018
VCL3Jul 17, 2018
VWF8Jul 17, 2018
ZEB21Jul 17, 2018
ZFPM21Jul 17, 2018
ZFPM2-AS11Jul 17, 2018

Condition

NameSubmissionsLast Updated
3-Methylglutaconic aciduria type 21Jul 17, 2018
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency29Jul 26, 2018
46,XY sex reversal, type 12Jan 31, 2018
Achondroplasia2Jan 31, 2018
Adrenal insufficiency2Feb 28, 2019
Adrenocorticotropic hormone deficiency10Jul 17, 2018
Agammaglobulinemia, non-Bruton type18Jan 31, 2018
Andersen Tawil syndrome1Jul 17, 2018
Androgen resistance syndrome42Jan 31, 2018
Angelman syndrome4Nov 20, 2014
Aortic aneurysm1Jan 31, 2018
Aortic aneurysm, familial thoracic 26Jan 31, 2018
Aortic dilatation3Jan 31, 2018
Aortic dissection1Jan 31, 2018
Arrhythmogenic right ventricular cardiomyopathy1Jul 17, 2018
Arterial tortuosity syndrome2Jan 31, 2018
Atrial septal defect1Jan 31, 2018
Autism2Jul 17, 2018
Autistic disorder of childhood onset1Nov 20, 2014
Autoimmune interstitial lung, joint, and kidney disease1Aug 2, 2019
Bannayan-Riley-Ruvalcaba syndrome1Jul 17, 2018
Becker muscular dystrophy11Oct 4, 2018
Benign familial neonatal seizures 12Feb 28, 2019
Bicuspid aortic valve2Jan 31, 2018
Biventricular noncompaction cardiomyopathy1Jul 17, 2018
Brain Aneurysm1Jan 31, 2018
Brugada syndrome4May 21, 2019
CHARGE association2Jul 17, 2018
Cardiac arrhythmia2Jul 17, 2018
Cardiomyopathy1Jan 10, 2019
Charcot-Marie-Tooth disease, type I6Feb 28, 2019
Childhood absence epilepsy1Jul 24, 2019
Christianson syndrome1May 15, 2019
Chronic adenoiditis1Jul 17, 2018
Chronic sinusitis2Jan 31, 2018
Complex febrile seizures1Jul 17, 2018
Congenital adrenal hypoplasia, X-linked13Nov 23, 2018
Congestive heart failure1Jul 17, 2018
Connective tissue disorder1Aug 12, 2019
Costello syndrome1Jul 17, 2018
Cowden syndrome2Jul 17, 2018
Craniosynostosis1Jan 31, 2018
Crouzon syndrome with acanthosis nigricans1Jan 31, 2018
Cystic fibrosis6Apr 25, 2019
Deafness, autosomal dominant 3a1Dec 7, 2018
Developmental delay2Jul 17, 2018
Dilated cardiomyopathy8Jul 17, 2018
Dilated cardiomyopathy 3B1Jan 31, 2018
Dilated cardiomyopathy with left ventricular noncompaction2Jul 17, 2018
Dilated left ventricle1Jul 17, 2018
Duchenne muscular dystrophy10Jan 31, 2018
Dystonia1Jan 31, 2018
EEG abnormality3Jul 17, 2018
Early infantile epileptic encephalopathy 131Jun 7, 2019
Early infantile epileptic encephalopathy 141Jun 7, 2019
Early infantile epileptic encephalopathy 71Jul 24, 2019
Early infantile epileptic encephalopathy 91Jul 9, 2018
Ehlers-Danlos syndrome2Apr 25, 2019
Ehlers-Danlos syndrome, classic type6Jun 12, 2019
Epilepsy8Jul 24, 2019
Epilepsy due to perinatal stroke1Jul 17, 2018
Epilepsy, familial focal, with variable foci 11Nov 21, 2018
Epilepsy, focal, with speech disorder and with or without mental retardation1Jul 17, 2018
Epilepsy, nocturnal frontal lobe, type 11Jul 17, 2018
Epileptic encephalopathy1Jul 17, 2018
Generalized myoclonic seizures1Jul 17, 2018
Generalized tonic-clonic seizures4Jul 17, 2018
Glucocorticoid Deficiency11Jan 31, 2018
Glycogen storage disease type II, infantile1Feb 26, 2019
Gonadotropin-independent familial sexual precocity1Aug 7, 2018
Hearing loss37Jul 17, 2018
Hemangioma1Jul 17, 2018
Hermansky-Pudlak syndrome 11Oct 22, 2018
Hirschsprung disease5Jul 17, 2018
Hydrocephalus1Jul 17, 2018
Hypertrophic cardiomyopathy11Mar 12, 2019
Hypochondroplasia3Jan 31, 2018
Hypoplastic left heart syndrome2Jul 17, 2018
Infantile spasms2Jul 17, 2018
Intractable seizure2Jul 17, 2018
Intractable status epilepticus1Jul 17, 2018
Juvenile myoclonic epilepsy1Jul 17, 2018
Laron-type isolated somatotropin defect7Jan 31, 2018
Left ventricular hypertrophy13Feb 28, 2019
Left ventricular noncompaction3Jul 17, 2018
Left ventricular noncompaction cardiomyopathy3Jul 17, 2018
Legius syndrome3Jan 31, 2018
Lennox-Gastaut syndrome4Aug 12, 2019
Leukoencephalopathy1Jul 17, 2018
Leydig cell agenesis3Jan 31, 2018
Loeys-Dietz syndrome8Jan 31, 2018
Long QT syndrome8Jul 17, 2018
Long QT syndrome 11Dec 21, 2018
Lung disease, non-specific4Jan 31, 2018
Macrocephalus1Jul 17, 2018
Macrothrombocytopenia2Mar 22, 2019
Marfan syndrome14Jun 27, 2019
McCune-Albright syndrome1Jul 17, 2018
Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness6Feb 28, 2019
Multiple endocrine neoplasia, type 2a3Feb 28, 2019
Multiple endocrine neoplasia, type 2b1Jul 17, 2018
Myotubular myopathy2Jan 31, 2018
Neonatal severe hyperparathyroidism1Feb 28, 2019
Neurofibromatosis, type 150Aug 19, 2019
Neurofibromatosis, type 22Jan 31, 2018
Neuronal ceroid lipofuscinosis9Jul 17, 2018
Noonan syndrome13Apr 1, 2019
Noonan syndrome 11Aug 6, 2018
Obesity14May 18, 2018
Osteogenesis imperfecta1Jan 31, 2018
PTEN hamartoma tumor syndrome1Sep 9, 2019
Pancreatitis1Jan 31, 2018
Peroxisome biogenesis disorder 1A (Zellweger)2May 23, 2019
Pituitary hormone deficiency, combined 19Jan 31, 2018
Precocious puberty in males2Jan 31, 2018
Primary generalized epilepsy1Jul 17, 2018
Pseudohermaphroditism14Jan 31, 2018
Pulmonic stenosis1Jan 31, 2018
Pyridoxine-dependent epilepsy5Jul 17, 2018
Rasopathy1May 23, 2019
Renal carnitine transport defect1Feb 28, 2019
Rett syndrome12Feb 28, 2019
Rieger syndrome1Jan 31, 2018
Rolandic epilepsy1Jul 17, 2018
Scoliosis1Jan 31, 2018
Seizures28Feb 28, 2019
Septo-optic dysplasia sequence5Jan 31, 2018
Severe X-linked myotubular myopathy13Feb 28, 2019
Severe myoclonic epilepsy in infancy1Jul 17, 2018
Shone complex1Jul 17, 2018
Subependymal giant-cell astrocytoma1Jul 17, 2018
Sudden death2Jul 17, 2018
Supraventricular tachycardia1Jul 17, 2018
Tetralogy of Fallot4May 9, 2019
Thyroid hormone resistance, generalized, autosomal dominant36Oct 7, 2019
Tuberous sclerosis syndrome4Aug 20, 2019
Wolff-Parkinson-White syndrome1Jul 17, 2018
developmental delay with absent seizures1Jul 17, 2018
developmental delay with intractable seizures2Jul 17, 2018
developmental delay with seizures4Jul 17, 2018
intractable epilepsy1Jul 17, 2018
myoclonic epilepsy2Jul 17, 2018
neonatal seizures2Jul 17, 2018
not specified41Jul 17, 2018
pharmacoresistant multifocal epilepsy1Jul 17, 2018
von Willebrand disorder7Jul 17, 2018

Testing in GTR

Disease nameNumber of tests
46,XX testicular disorder of sex development1 test
46,XY sex reversal, type 11 test
ACTH resistance1 test
Achondroplasia1 test
Adrenocorticotropic hormone deficiency1 test
Androgen resistance syndrome1 test
Angelman syndrome2 tests
Bannayan-Riley-Ruvalcaba syndrome1 test
Becker muscular dystrophy2 tests
Beckwith-Wiedemann syndrome1 test
Beta thalassemia intermedia1 test
Beta thalassemia major1 test
Beta thalassemia minor1 test
CHARGE association2 tests
Cardiofaciocutaneous syndrome 11 test
Ceroid lipofuscinosis neuronal 11 test
Ceroid lipofuscinosis neuronal 21 test
Congenital adrenal hypoplasia, X-linked1 test
Costello syndrome1 test
Cowden syndrome1 test
Deafness, digenic, GJB2/GJB61 test
Dilated cardiomyopathy 3B2 tests
Duchenne muscular dystrophy2 tests
Dystonia 11 test
Dystrophinopathies1 test
Factor V deficiency1 test
Familial hypertrophic cardiomyopathy 11 test
Familial medullary thyroid carcinoma1 test
Fragile X syndrome1 test
Fragile X tremor/ataxia syndrome1 test
Hb SS disease1 test
Hemochromatosis type 11 test
Hereditary hearing loss and deafness1 test
Hirschsprung disease1 test
Hirschsprung disease 11 test
Homocysteinemia due to MTHFR deficiency1 test
Homocystinuria1 test
Homocystinuria due to MTHFR deficiency1 test
Huntington's chorea1 test
Hyperhomocysteinemia1 test
Hypochondroplasia1 test
Hypogonadotropic hypogonadism 11 with or without anosmia1 test
Hypospadias1 test
Infantile neuronal ceroid lipofuscinosis1 test
Juvenile onset Huntington's disease1 test
Kugelberg-Welander disease1 test
Laron-type isolated somatotropin defect1 test
Legius syndrome3 tests
Leydig cell agenesis1 test
MASP2 deficiency1 test
Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness1 test
Multiple endocrine neoplasia, type 21 test
Multiple endocrine neoplasia, type 2a1 test
Multiple endocrine neoplasia, type 2b1 test
Myopathy, centronuclear, 11 test
Myotonic dystrophy1 test
Myotubular myopathy1 test
Neurofibromatosis, type 12 tests
Neuronal ceroid lipofuscinosis2 tests
Noonan syndrome1 test
Noonan syndrome-like disorder with loose anagen hair 11 test
Obesity1 test
Pituitary hormone deficiency, combined2 tests
Pituitary hormone deficiency, combined 11 test
Pituitary hormone deficiency, combined 21 test
Pituitary hormone deficiency, combined 31 test
Pituitary hormone deficiency, combined 41 test
Prader-Willi syndrome1 test
Precocious puberty1 test
Rasopathy1 test
Recurrent infections1 test
Rett syndrome2 tests
Russell-Silver syndrome1 test
Septo-optic dysplasia sequence1 test
Severe X-linked myotubular myopathy1 test
Severe neonatal-onset encephalopathy with microcephaly1 test
Sickle cell-Hemoglobin O Arab disease1 test
Sickle cell-beta-thalassemia1 test
Sickle cell-hemoglobin C disease1 test
Sickle cell-hemoglobin D disease1 test
Spinal muscular atrophy1 test
Spinal muscular atrophy type 41 test
Spinal muscular atrophy, type II1 test
Testosterone 17-beta-dehydrogenase deficiency1 test
Thalassemia intermedia1 test
Thrombophilia due to activated protein C resistance1 test
Thyroid Hormone Resistance1 test
Venous thrombosis1 test
Werdnig-Hoffmann disease1 test
X-linked agammaglobulinemia1 test
X-linked agammaglobulinemia with growth hormone deficiency1 test
beta Thalassemia1 test
von Willebrand disorder1 test
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