Human Genetics Unit (University Of Colombo), HGU
General information
Human Genetics Unit, HGU
University Of Colombo
No. 25 Kynsey Rd
Colombo 08
Western
Sri Lanka - 00800
http://www.hgucolombo.org/
Organization ID: 505980
University Of Colombo
No. 25 Kynsey Rd
Colombo 08
Western
Sri Lanka - 00800
http://www.hgucolombo.org/
Organization ID: 505980
Personnel
- Nelanka Colombage, Informatics staff
Phone: 0718437108
Email: ra1@genetics.cmb.ac.lk - Bhagya Hendalage, Informatics staff
Phone: 0776866369
Email: ra4@genetics.cmb.ac.lk - Nilaksha Neththikumara, Informatics staff
Phone: 0094773689529
Email: nilakshafreezon@gmail.com
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 24
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| APC | 1 | Jun 2, 2021 |
| ATRX | 1 | Aug 18, 2020 |
| BRCA2 | 1 | Jul 24, 2019 |
| CDC73 | 1 | Sep 13, 2022 |
| CTSK | 2 | Dec 28, 2023 |
| DKC1 | 1 | May 17, 2017 |
| EIF2B4 | 1 | Sep 23, 2020 |
| FGFR2 | 1 | Aug 9, 2022 |
| HFE | 1 | Aug 1, 2021 |
| HFE-AS1 | 1 | Aug 1, 2021 |
| MED12L | 1 | Jan 26, 2024 |
| MEN1 | 1 | May 18, 2022 |
| MFN2 | 1 | Sep 23, 2020 |
| MSH6 | 1 | May 18, 2022 |
| MTMR2 | 1 | Jan 26, 2024 |
| NAGLU | 1 | Jul 29, 2020 |
| PALB2 | 1 | Jul 26, 2019 |
| PCNT | 1 | Mar 10, 2022 |
| PMS2 | 1 | Jul 26, 2019 |
| SCN1A | 2 | Jan 26, 2024 |
| SLC12A3 | 1 | Apr 5, 2017 |
| SLC40A1 | 2 | Aug 23, 2021 |
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| Breast-ovarian cancer, familial, susceptibility to, 2 | 1 | Jul 24, 2019 |
| Charcot-Marie-Tooth disease type 2A2 | 1 | Sep 23, 2020 |
| Charcot-Marie-Tooth disease type 4B1 | 1 | Jan 26, 2024 |
| Colorectal cancer | 1 | Jun 2, 2021 |
| Dyskeratosis congenita, X-linked | 1 | May 17, 2017 |
| Familial cancer of breast | 2 | Jul 26, 2019 |
| Familial hypokalemia-hypomagnesemia | 1 | Apr 5, 2017 |
| Hemochromatosis type 1 | 1 | Aug 1, 2021 |
| Hemochromatosis type 4 | 2 | Aug 23, 2021 |
| Hyperparathyroidism 2 with jaw tumors | 1 | Sep 13, 2022 |
| Intellectual disability-hypotonic facies syndrome, X-linked, 1 | 1 | Aug 18, 2020 |
| Lynch syndrome 5 | 1 | May 18, 2022 |
| Microcephalic osteodysplastic primordial dwarfism type II | 1 | Mar 10, 2022 |
| Mucopolysaccharidosis, MPS-III-B | 1 | Jul 29, 2020 |
| Multiple endocrine neoplasia, type 1 | 1 | May 18, 2022 |
| Nizon-Isidor syndrome | 1 | Jan 26, 2024 |
| Pfeiffer syndrome | 1 | Aug 9, 2022 |
| Pyknodysostosis | 2 | Dec 28, 2023 |
| Severe myoclonic epilepsy in infancy | 2 | Jan 26, 2024 |
| Vanishing white matter disease | 1 | Sep 23, 2020 |