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
- Fatimah Nahhas-Alwan, Lab Associate Director
Phone: 727-767-8139
Email: fnahhas1@jhmi.edu
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 751
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 |
ATP1A2 | 1 | Oct 11, 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 | 15 | Feb 21, 2020 |
CFTR-AS1 | 2 | Feb 21, 2020 |
CHD7 | 3 | Dec 10, 2019 |
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 | 3 | Dec 17, 2019 |
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 | 2 | Mar 20, 2020 |
DES | 1 | Jan 10, 2019 |
DMD | 22 | Oct 4, 2018 |
DSC2 | 2 | Jul 17, 2018 |
DSG2 | 1 | Feb 28, 2019 |
DSP | 5 | Jan 15, 2020 |
ELN | 1 | Dec 10, 2019 |
EPM2A | 1 | Feb 28, 2019 |
FBN1 | 19 | Mar 31, 2020 |
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 | 4 | Oct 11, 2019 |
KCNQ3 | 1 | Feb 28, 2019 |
KCNT1 | 3 | Jun 7, 2019 |
KCTD7 | 1 | Jul 17, 2018 |
KLLN | 1 | Feb 28, 2019 |
LAMA2 | 1 | Jul 17, 2018 |
LAMA4 | 3 | Jul 17, 2018 |
LDB3 | 1 | Jan 15, 2020 |
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 | 8 | Jan 16, 2020 |
MYL2 | 2 | Jul 17, 2018 |
MYL3 | 1 | Jan 14, 2020 |
MYLK | 2 | Jan 31, 2018 |
MYPN | 2 | Jul 17, 2018 |
NEXN | 2 | Jul 17, 2018 |
NF1 | 57 | Mar 18, 2020 |
NF2 | 2 | Jan 31, 2018 |
NHLH1 | 1 | Aug 2, 2019 |
NOTCH1 | 3 | Dec 10, 2019 |
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 | 9 | Jan 21, 2020 |
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 |
TCAP | 1 | Jan 15, 2020 |
TGFB2 | 1 | Jan 31, 2018 |
TGFBR1 | 2 | Jan 31, 2018 |
TGFBR2 | 1 | Jan 31, 2018 |
THRB | 36 | Oct 7, 2019 |
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 | 7 | Dec 27, 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 |
Achondroplasia | 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 |
Centronuclear myopathy | 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 |
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 |
Homocystinuria | 1 test |
Homocystinuria due to MTHFR deficiency | 1 test |
Homocystinuria due to methylene tetrahydrofolate reductase deficiency | 1 test |
Huntington disease | 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 hypoplasia, type 1 | 1 test |
Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness | 1 test |
Myopathy, centronuclear, 1 | 1 test |
Myotonic dystrophy | 1 test |
Neurofibromatosis, type 1 | 2 tests |
Neuronal ceroid lipofuscinosis | 2 tests |
Neuronal ceroid lipofuscinosis 1 | 1 test |
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 2 | 1 test |
Pituitary hormone deficiency, combined, 1 | 1 test |
Prader-Willi syndrome | 1 test |
Precocious puberty | 1 test |
Rasopathy | 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 II | 1 test |
Spinal muscular atrophy, type IV | 1 test |
Testosterone 17-beta-dehydrogenase deficiency | 1 test |
Thalassemia intermedia | 1 test |
Thrombophilia due to factor V Leiden | 1 test |
Thrombophilia due to thrombin defect | 1 test |
Thyroid hormone resistance syndrome | 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 |