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: bjorn.haukanes@helse-bergen.no - Ingvild Aukrust, Principal Investigator
Phone: +4798836907
Email: Ingvild.Aukrust@helse-bergen.no
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 |