Women's and Children's Health (University of Otago)
General information
Personnel
- Stephen Robertson, Principal Investigator
Phone: +6434707469
Email: [email protected] - Emma Wade, Staff
Phone: +6434707469
Email: [email protected]
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 19
Gene
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| Accelerated skeletal maturation | 2 | Jul 3, 2019 |
| Arachnodactyly | 2 | Jul 3, 2019 |
| Attenuated frontometaphyseal dysplasia | 2 | Mar 10, 2021 |
| Diverticulum of bladder | 2 | Jul 3, 2019 |
| Dolichocephaly | 2 | Jul 3, 2019 |
| Dural ectasia | 2 | Jul 3, 2019 |
| Ectropion of lower eyelids | 2 | Jul 3, 2019 |
| Generalized hypotonia | 2 | Jul 3, 2019 |
| Glutamine synthetase stabilization disorder | 6 | Mar 4, 2024 |
| High myopia | 2 | Jul 3, 2019 |
| Inguinal hernia | 2 | Jul 3, 2019 |
| Joint hypermobility | 2 | Jul 3, 2019 |
| Levy-Hollister syndrome | 1 | Apr 12, 2021 |
| Osteopathia striata with cranial sclerosis | 6 | Aug 12, 2020 |
| Posterolateral diaphragmatic hernia | 2 | Jul 3, 2019 |
| Primary pulmonary hypoplasia | 1 | Apr 12, 2021 |
| Pulmonary bulla | 2 | Jul 3, 2019 |
| Scoliosis | 2 | Jul 3, 2019 |
| Spondylocarpotarsal synostosis syndrome | 2 | Mar 2, 2021 |
| Tall stature | 2 | Jul 3, 2019 |