Bicknell laboratory (University of Otago)
General information
Bicknell laboratory
University of Otago
Dunedin
Otago
New Zealand
https://www.otago.ac.nz/biochemistry/people/profile/index.html?id=2236
Organization ID: 505703
University of Otago
Dunedin
Otago
New Zealand
https://www.otago.ac.nz/biochemistry/people/profile/index.html?id=2236
Organization ID: 505703
Personnel
- Louise Bicknell, Principal Investigator
Phone: 0064 3 4795056
Email: louise.bicknell@otago.ac.nz - Bridget Fellows, Staff
Phone: 0064 3 4795056
Email: bridget.fellows@otago.ac.nz
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 33
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| ABL1 | 1 | Jun 17, 2021 |
| ACAN | 1 | Jun 17, 2021 |
| ACTB | 1 | Jun 17, 2021 |
| CDC45 | 1 | Jun 3, 2021 |
| CDK13 | 1 | Jun 17, 2021 |
| CDT1 | 2 | Jun 17, 2021 |
| CTB-99A3.1 | 1 | Nov 4, 2021 |
| DNMT3A | 1 | Jun 17, 2021 |
| DONSON | 6 | Jun 17, 2021 |
| DPF2 | 1 | Aug 2, 2021 |
| EP300 | 1 | Jun 17, 2021 |
| MCM3 | 1 | Jun 17, 2021 |
| MCM7 | 4 | Jun 17, 2021 |
| ORC1 | 3 | Dec 15, 2021 |
| ORC6 | 4 | Jun 17, 2021 |
| PAX1 | 1 | Feb 24, 2022 |
| PPP2R2B | 1 | Nov 4, 2021 |
| SLC35C1 | 2 | Aug 2, 2021 |
| TUBB4A | 1 | Jun 17, 2021 |
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| Autism spectrum disorder | 1 | Jun 17, 2021 |
| Baraitser-Winter syndrome 1 | 1 | Jun 17, 2021 |
| Coffin-Siris syndrome 7 | 1 | Aug 2, 2021 |
| Craniofacial microsomia | 1 | Feb 24, 2022 |
| Leukocyte adhesion deficiency type II | 2 | Aug 2, 2021 |
| Meier-Gorlin syndrome | 11 | Jun 17, 2021 |
| Meier-Gorlin syndrome 1 | 3 | Dec 15, 2021 |
| Meier-Gorlin syndrome 3 | 4 | Jun 17, 2021 |
| Meier-Gorlin syndrome 4 | 2 | Jun 17, 2021 |
| Meier-Gorlin syndrome 7 | 1 | Jun 3, 2021 |
| Microcephaly | 2 | Jun 17, 2021 |
| Neurodevelopmental disorder | 1 | Nov 4, 2021 |
| Osteochondritis dissecans | 1 | Jun 17, 2021 |
| Rubinstein-Taybi syndrome due to EP300 haploinsufficiency | 1 | Jun 17, 2021 |
| Tatton-Brown-Rahman overgrowth syndrome | 1 | Jun 17, 2021 |