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
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
- Adam Coovadia
Phone: 727-767-8985
Email: acoovad1@jhmi.edu - Fatimah Nahhas-Alwan, Lab Associate Director
Phone: 727-767-8139
Email: fnahhas1@jhmi.edu - O. Thomas Mueller
Phone: 727-767-8985
Email: othomas.mueller@jhmi.edu
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 721
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| A2ML1 | 1 | Aug 6, 2018 |
| ACBD6 | 1 | Jan 31, 2018 |
| ACTA2 | 1 | Jan 31, 2018 |
| ACTC1 | 3 | Jul 17, 2018 |
| ACTN2 | 2 | Jul 17, 2018 |
| ALDH5A1 | 2 | Jul 17, 2018 |
| ALDH7A1 | 3 | Jul 17, 2018 |
| ANK2 | 2 | Jul 17, 2018 |
| AR | 42 | Jan 31, 2018 |
| ARHGEF9 | 4 | Feb 28, 2019 |
| BAG3 | 1 | Jul 17, 2018 |
| BRAF | 2 | Jul 17, 2018 |
| BTK | 18 | Jan 31, 2018 |
| CACNA1A | 2 | Feb 28, 2019 |
| CACNA1C | 1 | Jul 17, 2018 |
| CACNA1C-AS1 | 1 | Jul 17, 2018 |
| CACNB2 | 1 | Jul 17, 2018 |
| CASQ2 | 1 | Jul 17, 2018 |
| CASR | 1 | Feb 28, 2019 |
| CBS | 1 | Jan 31, 2018 |
| CDKL5 | 2 | Jul 17, 2018 |
| CFAP53 | 1 | Jul 17, 2018 |
| CFTR | 13 | Apr 25, 2019 |
| CFTR-AS1 | 1 | Jan 31, 2018 |
| CHD7 | 2 | Jul 17, 2018 |
| CHRNA1 | 5 | Feb 28, 2019 |
| CHRNA2 | 1 | Jul 17, 2018 |
| CHRNA4 | 2 | Feb 28, 2019 |
| CITED2 | 1 | Jul 17, 2018 |
| CLCN2 | 2 | Jul 17, 2018 |
| COL1A1 | 1 | Jan 31, 2018 |
| COL3A1 | 2 | Jan 31, 2018 |
| COL5A1 | 4 | Jun 12, 2019 |
| COL5A2 | 1 | Jan 31, 2018 |
| COPA | 1 | Aug 2, 2019 |
| CRELD1 | 1 | May 9, 2019 |
| DEPDC5 | 1 | Nov 21, 2018 |
| DES | 1 | Jan 10, 2019 |
| DMD | 22 | Oct 4, 2018 |
| DSC2 | 2 | Jul 17, 2018 |
| DSG2 | 1 | Feb 28, 2019 |
| DSP | 4 | Jul 17, 2018 |
| EPM2A | 1 | Feb 28, 2019 |
| FBN1 | 14 | Aug 12, 2019 |
| FBN2 | 5 | Jan 31, 2018 |
| FGFR3 | 6 | Jan 31, 2018 |
| FLNA | 6 | Apr 8, 2019 |
| FOLR1 | 1 | Feb 28, 2019 |
| FOXRED1 | 2 | Jul 17, 2018 |
| GAA | 1 | Feb 26, 2019 |
| GABRA1 | 1 | Jul 17, 2018 |
| GABRD | 1 | Jul 17, 2018 |
| GABRG2 | 2 | Aug 12, 2019 |
| GAD1 | 3 | Jul 17, 2018 |
| GATM | 2 | Jul 17, 2018 |
| GHR | 7 | Jan 31, 2018 |
| GJB2 | 38 | Dec 7, 2018 |
| GNAS | 3 | Jul 17, 2018 |
| GOSR2 | 1 | Jul 17, 2018 |
| GP9 | 2 | Mar 22, 2019 |
| GPLD1 | 1 | Jul 17, 2018 |
| GRIN2A | 2 | Jul 17, 2018 |
| GRIN2B | 2 | Jul 17, 2018 |
| HESX1 | 10 | Jan 31, 2018 |
| HPS1 | 1 | Oct 22, 2018 |
| HRAS | 2 | Jul 17, 2018 |
| HSD17B3 | 13 | Jan 31, 2018 |
| HSD17B3-AS1 | 8 | Jan 31, 2018 |
| JPH2 | 1 | Jul 17, 2018 |
| JUP | 1 | Jul 17, 2018 |
| KCNE1 | 1 | Jul 17, 2018 |
| KCNH2 | 2 | Jul 17, 2018 |
| KCNJ2 | 3 | Jul 17, 2018 |
| KCNQ1 | 9 | Dec 21, 2018 |
| KCNQ2 | 3 | Jul 24, 2019 |
| KCNQ3 | 1 | Feb 28, 2019 |
| KCNT1 | 3 | Jun 7, 2019 |
| KCTD7 | 1 | Jul 17, 2018 |
| LAMA2 | 1 | Jul 17, 2018 |
| LAMA4 | 3 | Jul 17, 2018 |
| LHCGR | 7 | Aug 7, 2018 |
| LHX3 | 2 | Jan 31, 2018 |
| LHX4 | 2 | Jan 31, 2018 |
| LHX4-AS1 | 1 | Jan 31, 2018 |
| LMNA | 2 | Jul 17, 2018 |
| LOC101448202 | 1 | Jan 31, 2018 |
| LOC101928174 | 3 | Jul 17, 2018 |
| LOC102724058 | 2 | Jul 17, 2018 |
| LOC109504725 | 3 | Jan 31, 2018 |
| LOC111674472 | 1 | Jan 31, 2018 |
| LOC114827850 | 1 | Jul 17, 2018 |
| LRRC37A2 | 1 | Jul 17, 2018 |
| LRRC56 | 2 | Jul 17, 2018 |
| MBD5 | 4 | Feb 28, 2019 |
| MC2R | 11 | Jan 31, 2018 |
| MC4R | 14 | May 18, 2018 |
| MECP2 | 14 | Feb 28, 2019 |
| MED12 | 1 | Jan 31, 2018 |
| MHRT | 1 | Jul 17, 2018 |
| MTM1 | 15 | Feb 28, 2019 |
| MYBPC3 | 2 | Jul 17, 2018 |
| MYH11 | 5 | Jan 31, 2018 |
| MYH6 | 3 | Jul 17, 2018 |
| MYH7 | 7 | Jul 17, 2018 |
| MYL2 | 2 | Jul 17, 2018 |
| MYLK | 2 | Jan 31, 2018 |
| MYPN | 2 | Jul 17, 2018 |
| NEXN | 2 | Jul 17, 2018 |
| NF1 | 50 | Aug 19, 2019 |
| NF2 | 2 | Jan 31, 2018 |
| NHLH1 | 1 | Aug 2, 2019 |
| NOTCH1 | 2 | Jul 17, 2018 |
| NR0B1 | 13 | Nov 23, 2018 |
| NSUN6 | 1 | Jul 17, 2018 |
| PANK2 | 1 | Jul 17, 2018 |
| PCDH19 | 4 | Jul 17, 2018 |
| PDHB | 1 | Feb 28, 2019 |
| PEX3 | 2 | May 23, 2019 |
| PITX2 | 1 | Jan 31, 2018 |
| PLOD1 | 1 | Apr 25, 2019 |
| PMP22 | 6 | Feb 28, 2019 |
| PNKP | 1 | Jul 17, 2018 |
| POLG | 4 | Jul 17, 2018 |
| POMT1 | 1 | Jul 17, 2018 |
| POU1F1 | 2 | Jul 17, 2018 |
| PPT1 | 5 | Jan 31, 2018 |
| PRICKLE1 | 1 | Jul 17, 2018 |
| PRICKLE2 | 1 | Feb 28, 2019 |
| PRKAG2 | 2 | Jul 17, 2018 |
| PRRT2 | 2 | Feb 28, 2019 |
| PTEN | 11 | Sep 9, 2019 |
| PTPN11 | 7 | Apr 1, 2019 |
| RBM20 | 1 | Jul 17, 2018 |
| RET | 11 | Feb 28, 2019 |
| RIT1 | 2 | Jul 17, 2018 |
| RYR1 | 1 | Jul 17, 2018 |
| RYR2 | 5 | Jul 17, 2018 |
| SCN1A | 5 | Jul 17, 2018 |
| SCN1A-AS1 | 1 | Feb 28, 2019 |
| SCN1B | 1 | Jul 24, 2019 |
| SCN2A | 1 | Jul 17, 2018 |
| SCN5A | 6 | May 21, 2019 |
| SCN8A | 3 | Jun 7, 2019 |
| SCN9A | 2 | Jul 24, 2019 |
| SLC19A2 | 6 | Feb 28, 2019 |
| SLC22A5 | 1 | Feb 28, 2019 |
| SLC25A22 | 2 | Jul 17, 2018 |
| SLC2A10 | 5 | Jan 31, 2018 |
| SLC9A6 | 1 | May 15, 2019 |
| SNHG14 | 5 | Jul 17, 2018 |
| SOS1 | 1 | Jul 17, 2018 |
| SPRED1 | 4 | May 23, 2019 |
| SPTAN1 | 2 | Jul 17, 2018 |
| SRD5A2 | 29 | Jul 26, 2018 |
| SRY | 2 | Jan 31, 2018 |
| ST3GAL3 | 2 | Jul 17, 2018 |
| STON1-GTF2A1L | 7 | Aug 7, 2018 |
| TAZ | 1 | Jul 17, 2018 |
| TBC1D24 | 1 | Jul 17, 2018 |
| TBX1 | 2 | Dec 6, 2018 |
| TBX19 | 12 | Feb 28, 2019 |
| TGFB2 | 1 | Jan 31, 2018 |
| TGFBR1 | 2 | Jan 31, 2018 |
| TGFBR2 | 1 | Jan 31, 2018 |
| THRB | 35 | Jul 3, 2018 |
| TMEM43 | 1 | Mar 12, 2019 |
| TNNI3 | 1 | Jul 17, 2018 |
| TNNT2 | 2 | Feb 28, 2019 |
| TOR1A | 1 | Jan 31, 2018 |
| TPP1 | 5 | Jul 17, 2018 |
| TSC1 | 1 | Feb 28, 2019 |
| TSC2 | 6 | Aug 20, 2019 |
| TTN | 7 | Mar 4, 2019 |
| TTN-AS1 | 4 | Mar 4, 2019 |
| UBE3A | 5 | Jul 17, 2018 |
| VCL | 3 | Jul 17, 2018 |
| VWF | 8 | Jul 17, 2018 |
| ZEB2 | 1 | Jul 17, 2018 |
| ZFPM2 | 1 | Jul 17, 2018 |
| ZFPM2-AS1 | 1 | Jul 17, 2018 |
Condition
Testing in GTR
| Disease name | Number of tests |
|---|---|
| 46,XX testicular disorder of sex development | 1 test |
| 46,XY sex reversal, type 1 | 1 test |
| ACTH resistance | 1 test |
| Achondroplasia | 1 test |
| Adrenocorticotropic hormone deficiency | 1 test |
| Androgen resistance syndrome | 1 test |
| Angelman syndrome | 2 tests |
| Bannayan-Riley-Ruvalcaba syndrome | 1 test |
| Becker muscular dystrophy | 2 tests |
| Beckwith-Wiedemann syndrome | 1 test |
| Beta thalassemia intermedia | 1 test |
| Beta thalassemia major | 1 test |
| Beta thalassemia minor | 1 test |
| CHARGE association | 2 tests |
| Cardiofaciocutaneous syndrome 1 | 1 test |
| Ceroid lipofuscinosis neuronal 1 | 1 test |
| Ceroid lipofuscinosis neuronal 2 | 1 test |
| Congenital adrenal hypoplasia, X-linked | 1 test |
| Costello syndrome | 1 test |
| Cowden syndrome | 1 test |
| Deafness, digenic, GJB2/GJB6 | 1 test |
| Dilated cardiomyopathy 3B | 2 tests |
| Duchenne muscular dystrophy | 2 tests |
| Dystonia 1 | 1 test |
| Dystrophinopathies | 1 test |
| Factor V deficiency | 1 test |
| Familial hypertrophic cardiomyopathy 1 | 1 test |
| Familial medullary thyroid carcinoma | 1 test |
| Fragile X syndrome | 1 test |
| Fragile X tremor/ataxia syndrome | 1 test |
| Hb SS disease | 1 test |
| Hemochromatosis type 1 | 1 test |
| Hereditary hearing loss and deafness | 1 test |
| Hirschsprung disease | 1 test |
| Hirschsprung disease 1 | 1 test |
| Homocysteinemia due to MTHFR deficiency | 1 test |
| Homocystinuria | 1 test |
| Homocystinuria due to MTHFR deficiency | 1 test |
| Huntington's chorea | 1 test |
| Hyperhomocysteinemia | 1 test |
| Hypochondroplasia | 1 test |
| Hypogonadotropic hypogonadism 11 with or without anosmia | 1 test |
| Hypospadias | 1 test |
| Infantile neuronal ceroid lipofuscinosis | 1 test |
| Juvenile onset Huntington's disease | 1 test |
| Kugelberg-Welander disease | 1 test |
| Laron-type isolated somatotropin defect | 1 test |
| Legius syndrome | 3 tests |
| Leydig cell agenesis | 1 test |
| MASP2 deficiency | 1 test |
| Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness | 1 test |
| Multiple endocrine neoplasia, type 2 | 1 test |
| Multiple endocrine neoplasia, type 2a | 1 test |
| Multiple endocrine neoplasia, type 2b | 1 test |
| Myopathy, centronuclear, 1 | 1 test |
| Myotonic dystrophy | 1 test |
| Myotubular myopathy | 1 test |
| Neurofibromatosis, type 1 | 2 tests |
| Neuronal ceroid lipofuscinosis | 2 tests |
| Noonan syndrome | 1 test |
| Noonan syndrome-like disorder with loose anagen hair 1 | 1 test |
| Obesity | 1 test |
| Pituitary hormone deficiency, combined | 2 tests |
| Pituitary hormone deficiency, combined 1 | 1 test |
| Pituitary hormone deficiency, combined 2 | 1 test |
| Pituitary hormone deficiency, combined 3 | 1 test |
| Pituitary hormone deficiency, combined 4 | 1 test |
| Prader-Willi syndrome | 1 test |
| Precocious puberty | 1 test |
| Rasopathy | 1 test |
| Recurrent infections | 1 test |
| Rett syndrome | 2 tests |
| Russell-Silver syndrome | 1 test |
| Septo-optic dysplasia sequence | 1 test |
| Severe X-linked myotubular myopathy | 1 test |
| Severe neonatal-onset encephalopathy with microcephaly | 1 test |
| Sickle cell-Hemoglobin O Arab disease | 1 test |
| Sickle cell-beta-thalassemia | 1 test |
| Sickle cell-hemoglobin C disease | 1 test |
| Sickle cell-hemoglobin D disease | 1 test |
| Spinal muscular atrophy | 1 test |
| Spinal muscular atrophy type 4 | 1 test |
| Spinal muscular atrophy, type II | 1 test |
| Testosterone 17-beta-dehydrogenase deficiency | 1 test |
| Thalassemia intermedia | 1 test |
| Thrombophilia due to activated protein C resistance | 1 test |
| Thyroid Hormone Resistance | 1 test |
| Venous thrombosis | 1 test |
| Werdnig-Hoffmann disease | 1 test |
| X-linked agammaglobulinemia | 1 test |
| X-linked agammaglobulinemia with growth hormone deficiency | 1 test |
| beta Thalassemia | 1 test |
| von Willebrand disorder | 1 test |