Clinical Genomics Laboratory (Washington University in St. Louis)
General information
Clinical Genomics Laboratory
Washington University in St. Louis
4320 Forest Park Avenue
CORTEX building, Suite 207
St.Louis
Missouri
United States - 63108
http://gps.wustl.edu/
Organization ID: 505219
Washington University in St. Louis
4320 Forest Park Avenue
CORTEX building, Suite 207
St.Louis
Missouri
United States - 63108
http://gps.wustl.edu/
Organization ID: 505219
Personnel
- Meagan Corliss, Genetic Counselor
Phone: 314-747-7337
Email: mcorliss@path.wustl.edu - Yang Cao, Lab Associate Director
Phone: 3142733225
Email: cao.yang@wustl.edu - Michelle Thompson, Variant scientist/curator
Phone: 410-972-6875
Email: michelle.t@wustl.edu - Jason Walker, Informatics staff
Phone: 3147477337
Email: jason.walker@wustl.edu
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 334
Gene
Gene | Submissions | Last Updated |
---|---|---|
ABL1 | 1 | Dec 12, 2023 |
ABTB3 | 1 | Dec 12, 2023 |
ACVRL1 | 1 | Dec 12, 2023 |
ADA2 | 1 | Dec 12, 2023 |
AIRE | 1 | Dec 12, 2023 |
AKT1 | 1 | Dec 12, 2023 |
ANK2 | 1 | Dec 12, 2023 |
APOL1 | 2 | Dec 12, 2023 |
ARAF | 2 | Dec 12, 2023 |
ATP1A3 | 1 | Dec 12, 2023 |
ATP6V1B2 | 1 | Dec 12, 2023 |
ATRX | 1 | Dec 12, 2023 |
BAZ2B | 1 | Dec 12, 2023 |
BCL11A | 1 | Dec 12, 2023 |
BNC2 | 1 | Dec 12, 2023 |
BRAF | 1 | Dec 12, 2023 |
BRPF1 | 1 | Dec 12, 2023 |
CACNA1A | 1 | Dec 12, 2023 |
CARD14 | 1 | Dec 12, 2023 |
CCDST | 3 | Dec 12, 2023 |
CCNH | 2 | Dec 12, 2023 |
CDC42 | 1 | Dec 12, 2023 |
CDC42BPB | 1 | Dec 12, 2023 |
CDK13 | 1 | Dec 12, 2023 |
CDKN1C | 1 | Dec 12, 2023 |
CELSR1 | 5 | Dec 12, 2023 |
CHD1 | 1 | Dec 12, 2023 |
CHD2 | 1 | Dec 12, 2023 |
CHD3 | 1 | Dec 12, 2023 |
CHD5 | 1 | Dec 12, 2023 |
CHD7 | 1 | Dec 12, 2023 |
CLDN14 | 2 | Dec 12, 2023 |
CLDN14-AS1 | 2 | Dec 12, 2023 |
COL10A1 | 1 | Dec 12, 2023 |
COL11A2 | 1 | Dec 12, 2023 |
COL4A3 | 1 | Dec 12, 2023 |
COL9A2 | 1 | Dec 12, 2023 |
CPEB4 | 1 | Dec 12, 2023 |
CPOX | 1 | Dec 12, 2023 |
CTNNB1 | 1 | Dec 12, 2023 |
DAGLA | 1 | Dec 12, 2023 |
DCHS1 | 5 | Dec 12, 2023 |
DEAF1 | 1 | Dec 12, 2023 |
DGKE | 1 | Dec 12, 2023 |
DHTKD1 | 1 | Dec 12, 2023 |
DMXL2 | 2 | Dec 12, 2023 |
DNAH11 | 1 | Dec 12, 2023 |
DNAH5 | 2 | Dec 12, 2023 |
DNAH8 | 1 | Dec 12, 2023 |
DPYSL3 | 1 | Dec 12, 2023 |
DSP | 1 | Dec 12, 2023 |
DVL1 | 1 | Dec 12, 2023 |
EARS2 | 1 | Dec 12, 2023 |
EEF1A1 | 1 | Dec 12, 2023 |
EIF3F | 1 | Dec 12, 2023 |
EPHB4 | 3 | Dec 12, 2023 |
EXT1 | 1 | Dec 12, 2023 |
EYA1 | 1 | Dec 12, 2023 |
FAT4 | 6 | Dec 12, 2023 |
FBXW11 | 1 | Dec 12, 2023 |
FGFR1 | 2 | Dec 12, 2023 |
FGFR2 | 2 | Dec 12, 2023 |
FGFR3 | 1 | Dec 12, 2023 |
FLG | 3 | Dec 12, 2023 |
FLT4 | 2 | Dec 12, 2023 |
FRMD7 | 1 | Dec 12, 2023 |
GABBR2 | 1 | Dec 12, 2023 |
GH-LCR | 1 | Dec 12, 2023 |
GJC2 | 2 | Dec 12, 2023 |
GLMN | 4 | Dec 12, 2023 |
GNA11 | 1 | Dec 12, 2023 |
GNA14 | 2 | Dec 12, 2023 |
GNAQ | 3 | Dec 12, 2023 |
GNAS | 3 | Dec 12, 2023 |
GRIA1 | 1 | Dec 12, 2023 |
HCFC1 | 1 | Dec 12, 2023 |
HECW2 | 1 | Dec 12, 2023 |
HFE | 1 | Dec 12, 2023 |
HNF4A | 1 | Dec 12, 2023 |
HNRNPU | 1 | Dec 12, 2023 |
HRAS | 3 | Dec 12, 2023 |
HSALR1 | 1 | Dec 12, 2023 |
HUWE1 | 2 | Dec 12, 2023 |
IDH1 | 1 | Dec 12, 2023 |
IDH2 | 1 | Dec 12, 2023 |
IL7 | 1 | Dec 12, 2023 |
INVS | 1 | Dec 12, 2023 |
IQSEC2 | 2 | Dec 12, 2023 |
ITSN1 | 1 | Dec 12, 2023 |
JMJD1C | 1 | Dec 12, 2023 |
KAT5 | 1 | Dec 12, 2023 |
KCNH2 | 3 | Dec 12, 2023 |
KCNQ1 | 2 | Dec 12, 2023 |
KCNQ5 | 1 | Dec 12, 2023 |
KDR | 2 | Dec 12, 2023 |
KIDINS220 | 1 | Dec 12, 2023 |
KIF11 | 1 | Dec 12, 2023 |
KIF1A | 1 | Dec 12, 2023 |
KIF5A | 1 | Dec 12, 2023 |
KMT2A | 2 | Dec 12, 2023 |
KMT2B | 1 | Dec 12, 2023 |
KMT2E | 1 | Dec 12, 2023 |
KRAS | 3 | Dec 12, 2023 |
KRIT1 | 2 | Dec 12, 2023 |
KRT1 | 2 | Dec 12, 2023 |
KRT10 | 1 | Dec 12, 2023 |
KRT10-AS1 | 1 | Dec 12, 2023 |
LOC102724058 | 2 | Dec 12, 2023 |
LOC121627952 | 1 | Dec 12, 2023 |
LOC126806659 | 1 | Dec 12, 2023 |
LOC126860124 | 2 | Dec 12, 2023 |
LOC126860585 | 1 | Dec 12, 2023 |
LOC126861887 | 1 | Dec 12, 2023 |
LOC129999303 | 1 | Dec 12, 2023 |
LOC130066813 | 1 | Dec 12, 2023 |
LRRC56 | 3 | Dec 12, 2023 |
LZTR1 | 3 | Dec 12, 2023 |
MAGEL2 | 1 | Dec 12, 2023 |
MAP1B | 1 | Dec 12, 2023 |
MAP2K1 | 4 | Dec 12, 2023 |
MAP3K3 | 1 | Dec 12, 2023 |
MAPK8IP3 | 1 | Dec 12, 2023 |
MARK2 | 1 | Dec 12, 2023 |
MED13 | 3 | Dec 12, 2023 |
MED13L | 1 | Dec 12, 2023 |
MFF-DT | 1 | Dec 12, 2023 |
MSH2 | 1 | Dec 12, 2023 |
MSI2 | 1 | Dec 12, 2023 |
MTOR | 6 | Dec 12, 2023 |
MXRA5 | 1 | Dec 12, 2023 |
MYBPC3 | 2 | Dec 12, 2023 |
MYCN | 1 | Dec 12, 2023 |
MYH7 | 1 | Dec 12, 2023 |
MYO10 | 1 | Dec 12, 2023 |
NCOR1 | 1 | Dec 12, 2023 |
NDUFA9 | 1 | Dec 12, 2023 |
NEDD4L | 2 | Dec 12, 2023 |
NF1 | 6 | Dec 12, 2023 |
NRAS | 2 | Dec 12, 2023 |
NT5DC1 | 1 | Dec 12, 2023 |
OCA2 | 2 | Dec 12, 2023 |
PACS1 | 1 | Dec 12, 2023 |
PALB2 | 2 | Dec 12, 2023 |
PCGF2 | 1 | Dec 12, 2023 |
PDE11A | 1 | Dec 12, 2023 |
PDGFRB | 1 | Dec 12, 2023 |
PHF14 | 1 | Dec 12, 2023 |
PIEZO1 | 7 | Dec 12, 2023 |
PIK3CA | 25 | Dec 12, 2023 |
PIK3CD | 1 | Dec 12, 2023 |
PIK3R1 | 2 | Dec 12, 2023 |
PIK3R2 | 1 | Dec 12, 2023 |
PKD1 | 1 | Dec 12, 2023 |
PLEC | 1 | Dec 12, 2023 |
PLXNA3 | 1 | Dec 12, 2023 |
POLR2A | 2 | Dec 12, 2023 |
PPFIA3 | 1 | Dec 12, 2023 |
PRKACA | 1 | Dec 12, 2023 |
PSMB11 | 1 | Dec 12, 2023 |
PTEN | 2 | Dec 12, 2023 |
PTPN11 | 1 | Dec 12, 2023 |
PTPN14 | 5 | Dec 12, 2023 |
RAB5A | 1 | Dec 12, 2023 |
RANBP2 | 1 | Dec 12, 2023 |
RASA1 | 2 | Dec 12, 2023 |
RELN | 1 | Dec 12, 2023 |
RERE | 1 | Dec 12, 2023 |
RET | 1 | Dec 12, 2023 |
REV3L | 1 | Dec 12, 2023 |
RORA | 1 | Dec 12, 2023 |
RORA-AS1 | 1 | Dec 12, 2023 |
RRAS | 1 | Dec 12, 2023 |
SCN1A | 2 | Dec 12, 2023 |
SCN2A | 1 | Dec 12, 2023 |
SCN4A | 1 | Dec 12, 2023 |
SCN5A | 1 | Dec 12, 2023 |
SDHA | 1 | Dec 12, 2023 |
SEMA6D | 1 | Dec 12, 2023 |
SERPINA1 | 1 | Dec 12, 2023 |
SHANK1 | 1 | Dec 12, 2023 |
SHANK3 | 1 | Dec 12, 2023 |
SIK1 | 1 | Dec 12, 2023 |
SLC12A2 | 1 | Dec 12, 2023 |
SLC17A8 | 1 | Dec 12, 2023 |
SLC1A2 | 1 | Dec 12, 2023 |
SLC25A46 | 2 | Dec 12, 2023 |
SLC35F1 | 1 | Dec 12, 2023 |
SMAD3 | 1 | Dec 12, 2023 |
SMO | 7 | Dec 12, 2023 |
SNAPC4 | 2 | Dec 12, 2023 |
SPI1 | 1 | Dec 12, 2023 |
SPTBN1 | 1 | Dec 12, 2023 |
STAT5B | 1 | Dec 12, 2023 |
STX8 | 1 | Dec 12, 2023 |
SUPT16H | 1 | Dec 12, 2023 |
SYNGAP1 | 2 | Dec 12, 2023 |
SYNGAP1-AS1 | 2 | Dec 12, 2023 |
SYP | 1 | Dec 12, 2023 |
SYP-AS1 | 1 | Dec 12, 2023 |
TEK | 8 | Dec 12, 2023 |
TNRC6B | 2 | Dec 12, 2023 |
TP53 | 1 | Aug 21, 2017 |
TP63 | 1 | Dec 12, 2023 |
TRIP12 | 1 | Dec 12, 2023 |
TRRAP | 1 | Dec 12, 2023 |
TSC1 | 3 | Dec 12, 2023 |
TSC2 | 4 | Dec 12, 2023 |
TTN | 3 | Dec 12, 2023 |
TTN-AS1 | 2 | Dec 12, 2023 |
UBA2 | 1 | Dec 12, 2023 |
UBXN7 | 1 | Dec 12, 2023 |
UPF2 | 1 | Dec 12, 2023 |
VAX2 | 1 | Dec 12, 2023 |
WDFY3 | 1 | Dec 12, 2023 |
WDR11 | 2 | Dec 12, 2023 |
WDR24 | 2 | Dec 12, 2023 |
WWP1 | 1 | Dec 12, 2023 |
ZBTB20 | 1 | Dec 12, 2023 |
ZC2HC1A | 1 | Dec 12, 2023 |
ZNF462 | 1 | Dec 12, 2023 |
ZNF827 | 1 | Dec 12, 2023 |
Condition
Testing in GTR
Disease name | Number of tests |
---|---|
3-Methylglutaconic aciduria type 2 | 1 test |
3-methylglutaconic aciduria, type VIIB | 1 test |
Acrokeratosis verruciformis of Hopf | 1 test |
Acute myeloid leukemia | 1 test |
Alport syndrome | 2 tests |
Angioosteohypertrophic syndrome | 2 tests |
Arrhythmogenic right ventricular cardiomyopathy | 3 tests |
Atypical hemolytic-uremic syndrome | 1 test |
Autoimmune lymphoproliferative syndrome | 1 test |
Autoimmune lymphoproliferative syndrome, type 1a | 1 test |
Autoinflammation, immune dysregulation, and eosinophilia | 2 tests |
Autosomal dominant Alport syndrome | 1 test |
Autosomal dominant polycystic kidney disease | 1 test |
Autosomal recessive Alport syndrome | 1 test |
Autosomal recessive keratitis-ichthyosis-deafness syndrome | 1 test |
Autosomal recessive polycystic kidney disease | 1 test |
Bannayan-Riley-Ruvalcaba syndrome | 1 test |
Baraitser-Winter syndrome | 2 tests |
Basal cell nevus syndrome 2 | 1 test |
Becker nevus syndrome | 1 test |
Beckwith-Wiedemann syndrome | 1 test |
Bone marrow failure syndrome 3 | 1 test |
Branchiootorenal Spectrum Disorders | 1 test |
Brugada syndrome | 3 tests |
CLOVES syndrome | 2 tests |
Capillary malformation | 1 test |
Capillary malformation-arteriovenous malformation 2 | 1 test |
Cardiac arrhythmia | 5 tests |
Cardioacrofacial dysplasia | 1 test |
Cardioacrofacial dysplasia 1 | 1 test |
Cardioacrofacial dysplasia 2 | 1 test |
Cardiomyopathy | 1 test |
Cardiomyopathy, hypertrophic, midventricular, digenic | 3 tests |
Catecholaminergic polymorphic ventricular tachycardia 1 | 3 tests |
Cerebral arteriovenous malformation | 1 test |
Cerebral cavernous malformation | 2 tests |
Charcot-Marie-Tooth disease | 1 test |
Chondrodysplasia punctata | 1 test |
Chédiak-Higashi syndrome | 1 test |
Coenzyme Q10 deficiency | 1 test |
Coenzyme Q10 deficiency, primary, 3 | 1 test |
Cohen syndrome | 1 test |
Combined immunodeficiency due to GINS1 deficiency | 1 test |
Complex cortical dysplasia with other brain malformations | 2 tests |
Complex cortical dysplasia with other brain malformations 2 | 2 tests |
Complex cortical dysplasia with other brain malformations 7 | 1 test |
Complex neurodevelopmental disorder with or without congenital anomalies | 1 test |
Complex vascular malformation with associated anomalies | 1 test |
Congenital disorder of glycosylation | 1 test |
Congenital hemangioma | 1 test |
Congenital ichthyosis of skin | 1 test |
Congenital neutropenia | 1 test |
Cowden syndrome | 1 test |
Curry-Jones syndrome | 3 tests |
Cyclical neutropenia | 1 test |
Developmental and epileptic encephalopathy 111 | 1 test |
Developmental and epileptic encephalopathy 6B | 1 test |
Developmental and epileptic encephalopathy, 11 | 1 test |
Developmental and epileptic encephalopathy, 19 | 1 test |
Developmental and epileptic encephalopathy, 2 | 2 tests |
Developmental and epileptic encephalopathy, 27 | 2 tests |
Developmental and epileptic encephalopathy, 7 | 2 tests |
Developmental and epileptic encephalopathy, 74 | 1 test |
Developmental and epileptic encephalopathy, 78 | 1 test |
Developmental and epileptic encephalopathy, 9 | 2 tests |
Diabetes mellitus | 5 tests |
Ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies | 1 test |
Encephalocraniocutaneous lipomatosis | 1 test |
Enchondromatosis | 1 test |
Epidermal nevus | 2 tests |
Epilepsy | 1 test |
Epilepsy, familial focal, with variable foci 2 | 1 test |
Epilepsy, familial focal, with variable foci 3 | 1 test |
Familial aplasia of the vermis | 1 test |
Familial benign pemphigus | 1 test |
Familial focal epilepsy with variable foci | 1 test |
Familial hyperinsulinism | 1 test |
Familial juvenile hyperuricemic nephropathy type 1 | 1 test |
Familial steroid-resistant nephrotic syndrome with sensorineural deafness | 1 test |
Focal segmental glomerulosclerosis | 2 tests |
Glomuvenous malformation | 1 test |
Glycogen storage disease, type I | 1 test |
Griscelli syndrome type 2 | 1 test |
Growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominant | 1 test |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive | 1 test |
Hemangiomatosis, cutaneous, with associated features | 1 test |
Hemimegalencephaly | 2 tests |
Hemolytic anemia due to adenylate kinase deficiency | 1 test |
Hennekam lymphangiectasia-lymphedema syndrome 1 | 1 test |
Hennekam lymphangiectasia-lymphedema syndrome 2 | 1 test |
Hereditary hemorrhagic telangiectasia | 1 test |
Hermansky-Pudlak syndrome 2 | 1 test |
Heterotopia, periventricular, X-linked dominant | 1 test |
Hyper-IgM syndrome type 1 | 1 test |
Hypereosinophilic syndrome | 1 test |
Hyperinsulinemic hypoglycemia | 1 test |
Hypertrophic cardiomyopathy | 1 test |
Hypoinsulinemic hypoglycemia and body hemihypertrophy | 2 tests |
Hypotrichosis-lymphedema-telangiectasia syndrome | 1 test |
Ichthyosis | 1 test |
Immunodeficiency 14 | 1 test |
Immunodeficiency 23 | 1 test |
Immunodeficiency 36 | 2 tests |
Immunodeficiency 67 | 1 test |
Immunodeficiency 98 with autoinflammation, X-linked | 1 test |
Infantile myofibromatosis | 1 test |
Isolated focal cortical dysplasia type II | 2 tests |
Left ventricular noncompaction | 2 tests |
Linear nevus sebaceous syndrome | 2 tests |
Lissencephaly | 2 tests |
Long QT syndrome | 3 tests |
Lymphatic malformation | 1 test |
Lymphedema-distichiasis syndrome with renal disease and diabetes mellitus | 1 test |
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss | 1 test |
Maffucci syndrome | 2 tests |
Marfan syndrome | 1 test |
McCune-Albright syndrome | 1 test |
Megalencephaly-capillary malformation-polymicrogyria syndrome | 3 tests |
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 | 2 tests |
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 | 1 test |
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 | 1 test |
Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome | 1 test |
Melanocytic nevus | 1 test |
Melorheostosis | 1 test |
Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability | 1 test |
Microcephaly-capillary malformation syndrome | 1 test |
Multiple cutaneous and mucosal venous malformations | 1 test |
Myelodysplastic syndrome | 1 test |
Myofibromatosis | 1 test |
Nephronophthisis | 1 test |
Nephrotic syndrome | 1 test |
Neurodevelopmental disorder | 1 test |
Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination | 2 tests |
Neurofibromatosis | 1 test |
Neutrophil immunodeficiency syndrome | 1 test |
Nevus comedonicus syndrome | 1 test |
Noonan syndrome | 2 tests |
Overgrowth syndrome | 1 test |
PTEN hamartoma tumor syndrome | 1 test |
Parkes Weber syndrome | 1 test |
Periventricular heterotopia with microcephaly, autosomal recessive | 2 tests |
Periventricular nodular heterotopia | 1 test |
Pierson syndrome | 1 test |
Pityriasis rubra pilaris | 1 test |
Poikiloderma with neutropenia | 1 test |
Polycystic kidney disease | 1 test |
Porokeratosis | 1 test |
Primary dilated cardiomyopathy | 3 tests |
Primary lymphedema | 1 test |
Proteus syndrome | 2 tests |
Pyogenic bacterial infections due to MyD88 deficiency | 1 test |
Pyogenic granuloma | 1 test |
RASopathy | 2 tests |
Renal cysts and diabetes syndrome | 1 test |
Renal dysplasia and retinal aplasia | 1 test |
Renal hypoplasia | 1 test |
Renal tubular dysgenesis | 1 test |
Renal-hepatic-pancreatic dysplasia | 1 test |
Segmental overgrowth | 1 test |
Severe congenital neutropenia | 1 test |
Severe neonatal-onset encephalopathy with microcephaly | 1 test |
Short QT syndrome | 2 tests |
Shwachman syndrome | 1 test |
Spindle cell hemangioma | 1 test |
Sturge-Weber syndrome | 1 test |
Telangiectasia, hereditary hemorrhagic, type 2 | 1 test |
Thrombotic microangiopathy | 1 test |
Transcobalamin II deficiency | 1 test |
Tuberous sclerosis syndrome | 2 tests |
Tubulointerstitial kidney disease, autosomal dominant, 2 | 1 test |
Usher syndrome type 2A | 1 test |
VEXAS syndrome | 2 tests |
Van Maldergem syndrome | 1 test |
Vascular anomaly | 1 test |
Verrucous venous malformation | 1 test |
WDR1 deficiency | 1 test |
Warts, hypogammaglobulinemia, infections, and myelokathexis | 1 test |
Wiskott-Aldrich syndrome | 1 test |
Wolcott-Rallison dysplasia | 1 test |