Wendy Chung Laboratory
(Columbia University Medical Center), WCL
General information
Wendy Chung Laboratory, WCL
Columbia University Medical Center
1150 St. Nicholas Ave.
New York
New York
United States - 10032
Organization ID: 506632
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 305
Gene
| Gene | Submissions | Last Updated |
|---|
| ATP13A3 | 5 | Aug 4, 2021 |
| ATP5PO | 1 | Sep 6, 2020 |
| BMPR1A | 43 | Feb 3, 2022 |
| BMPR1B | 1 | Jun 27, 2018 |
| BMPR2 | 76 | Feb 3, 2022 |
| CACNA1A | 33 | May 5, 2022 |
| CAV1 | 1 | Jun 27, 2018 |
| CDC42BPB | 12 | Sep 11, 2019 |
| ENG | 1 | Jun 27, 2018 |
| IRAK1BP1 | 15 | Nov 30, 2023 |
| LOC102723566 | 1 | Jun 27, 2018 |
| LOC126653351 | 1 | Sep 6, 2020 |
| LOC126862864 | 1 | May 5, 2022 |
| LOC126862865 | 1 | May 5, 2022 |
| LSM1 | 1 | Jan 3, 2019 |
| MPEG1 | 1 | Aug 2, 2022 |
| NRROS | 1 | Aug 2, 2022 |
| PHIP | 34 | Nov 30, 2023 |
| SMAD9 | 2 | Jun 27, 2018 |
| TBX4 | 90 | Jan 10, 2022 |
| TRAPPC2L | 1 | Jul 3, 2020 |
| VARS1 | 2 | Jul 19, 2018 |
Condition
| Name | Submissions | Last Updated | | Abnormal facial shape | 1 | Jan 3, 2019 |
| Autosomal recessive amelia | 1 | Jan 10, 2022 |
| Bicuspid aortic valve | 1 | Jan 3, 2019 |
| CDC42BPB-related neurodevelopmental syndrome | 12 | Sep 11, 2019 |
| Constipation | 1 | Jan 3, 2019 |
| Coxopodopatellar syndrome | 14 | Jan 10, 2022 |
| Cryptorchidism | 1 | Jan 3, 2019 |
| Delayed speech and language development | 2 | Jul 19, 2018 |
| Developmental and epileptic encephalopathy, 52 | 33 | May 5, 2022 |
| Drug- or toxin-induced pulmonary arterial hypertension | 2 | Feb 3, 2022 |
| Elevated circulating hepatic transaminase concentration | 2 | Jul 19, 2018 |
| Encephalopathy, progressive, early-onset, with episodic rhabdomyolysis | 1 | Jul 3, 2020 |
| Episodic ataxia type 2 | 33 | May 5, 2022 |
| Feeding difficulties | 1 | Jan 3, 2019 |
| Fetal pyelectasis | 1 | Jan 3, 2019 |
| Generalized hypotonia | 3 | Jan 3, 2019 |
| Hemivertebrae | 1 | Jan 3, 2019 |
| Hydroureter | 1 | Jan 3, 2019 |
| Idiopathic and/or familial pulmonary arterial hypertension | 99 | Feb 3, 2022 |
| Immunodeficiency 77 | 1 | Aug 2, 2022 |
| Inguinal hernia | 1 | Jan 3, 2019 |
| Intellectual disability | 3 | Jan 3, 2019 |
| Leigh syndrome | 1 | Sep 6, 2020 |
| Microcephaly | 1 | Jul 19, 2018 |
| Migraine, familial hemiplegic, 1 | 33 | May 5, 2022 |
| Mitral stenosis | 1 | Jan 3, 2019 |
| Neurodevelopmental delay | 1 | Jan 3, 2019 |
| Oligohydramnios | 1 | Jan 3, 2019 |
| PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome | 34 | Nov 30, 2023 |
| Patent ductus arteriosus after premature birth | 1 | Jan 3, 2019 |
| Penile hypospadias | 1 | Jan 3, 2019 |
| Perimembranous ventricular septal defect | 1 | Jan 3, 2019 |
| Premature birth | 2 | Jul 19, 2018 |
| Primary pulmonary hypoplasia | 2 | Jan 10, 2022 |
| Pulmonary arterial hypertension | 115 | Feb 3, 2022 |
| Pulmonary arterial hypertension associated with HIV infection | 1 | Feb 3, 2022 |
| Pulmonary arterial hypertension associated with another disease | 10 | Feb 3, 2022 |
| Pulmonary arterial hypertension associated with congenital heart disease | 23 | Feb 3, 2022 |
| Pulmonary arterial hypertension associated with connective tissue disease | 3 | Feb 3, 2022 |
| Pulmonary hypertension, primary, 1 | 70 | Jan 10, 2022 |
| Secondary microcephaly | 1 | Jul 19, 2018 |
| Seizures, early-onset, with neurodegeneration and brain calcifications | 1 | Aug 2, 2022 |
| Spinocerebellar ataxia type 6 | 33 | May 5, 2022 |
| Strabismus | 1 | Jan 3, 2019 |
| Triphalangeal thumb | 1 | Jan 3, 2019 |
