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 |