Center for Medical Genetics and Molecular Medicine (Haukeland University Hospital), CMGMM
General information
Center for Medical Genetics and Molecular Medicine, CMGMM
Haukeland University Hospital
Bergen
Norway - N-5021
https://helse-bergen.no/avdelinger/laboratorieklinikken/medisinsk-genetikk-og-molekylermedisin
Organization ID: 506087
Haukeland University Hospital
Bergen
Norway - N-5021
https://helse-bergen.no/avdelinger/laboratorieklinikken/medisinsk-genetikk-og-molekylermedisin
Organization ID: 506087
Personnel
- Bjorn Ivar Haukanes, Principal Investigator
Phone: +4755975332
Email: [email protected] - Ingvild Aukrust, Principal Investigator
Phone: +4798836907
Email: [email protected]
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 35
Gene
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| Beckwith-Wiedemann syndrome | 1 | Oct 7, 2020 |
| DEGCAGS syndrome | 7 | Feb 15, 2024 |
| Fabry disease | 1 | Jul 3, 2017 |
| IMAGe syndrome | 1 | Oct 7, 2020 |
| Intellectual disability | 2 | Dec 6, 2017 |
| Intellectual disability, X-linked syndromic, Turner type | 18 | May 10, 2017 |
| Megalencephaly-capillary malformation-polymicrogyria syndrome | 2 | Oct 1, 2021 |
| Neurodevelopmental disorder with severe motor impairment and absent language | 1 | May 3, 2018 |
| Noonan syndrome 8 | 2 | Oct 1, 2021 |
| Ogden syndrome | 1 | Apr 5, 2018 |
| Warburg-cinotti syndrome | 2 | Oct 12, 2018 |