Rare Disease Group, Clinical Genetics (Karolinska Institutet), RDG
General information
Rare Disease Group, Clinical Genetics, RDG
Karolinska Institutet
Visionsgatan 4 (J10:20), Karolinska University Hospital
Solna
Stockholms Lan
Sweden - 17164
http://ki.se/en/mmk/rare-diseases
Organization ID: 506202
Karolinska Institutet
Visionsgatan 4 (J10:20), Karolinska University Hospital
Solna
Stockholms Lan
Sweden - 17164
http://ki.se/en/mmk/rare-diseases
Organization ID: 506202
Personnel
- Wolfgang Hofmeister, Staff
Phone: +460723983161
Email: wolfgang.hofmeister@ki.se - Maria Pettersson, Coordinator
Phone: +46702220391
Email: maria.pettersson.1@ki.se
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 248
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| ACOX1 | 1 | Apr 9, 2019 |
| ADAMTSL2 | 14 | Oct 11, 2022 |
| ADGRL3 | 1 | Apr 9, 2019 |
| ALMS1 | 1 | Sep 10, 2018 |
| ALMS1-IT1 | 1 | Sep 10, 2018 |
| ANKRD11 | 1 | Apr 9, 2019 |
| ATP1A1 | 1 | Mar 6, 2019 |
| ATP1A1-AS1 | 1 | Mar 6, 2019 |
| ATXN7 | 1 | Apr 26, 2019 |
| B9D1 | 2 | Apr 9, 2019 |
| BBS9 | 1 | Apr 9, 2019 |
| BMP5 | 2 | May 16, 2024 |
| BRCA2 | 1 | Apr 9, 2019 |
| C2CD3 | 2 | May 31, 2018 |
| CAMTA1 | 1 | Dec 17, 2018 |
| CCDC39 | 1 | May 31, 2018 |
| CCNO-DT | 1 | Jul 23, 2019 |
| CEP63 | 2 | May 31, 2021 |
| CLN5 | 1 | Apr 9, 2019 |
| COL1A2 | 2 | Feb 8, 2024 |
| COL4A1 | 3 | Mar 9, 2018 |
| COL4A2 | 3 | Apr 12, 2018 |
| COPB1 | 1 | Apr 22, 2022 |
| CYP26A1 | 1 | Apr 12, 2018 |
| CYP26C1 | 2 | Feb 27, 2018 |
| DMD | 1 | Apr 9, 2019 |
| DNAH6 | 1 | Apr 9, 2019 |
| DNAI3 | 1 | Jun 19, 2017 |
| DYNC2H1 | 24 | Sep 13, 2024 |
| ECEL1 | 2 | Apr 9, 2019 |
| EVC | 2 | May 31, 2018 |
| EVC2 | 1 | May 31, 2018 |
| FANCA | 1 | Apr 9, 2019 |
| GALNT14 | 1 | Jun 11, 2018 |
| GDF9 | 1 | Apr 9, 2019 |
| GLDC | 1 | Apr 9, 2019 |
| IFT122 | 1 | May 31, 2018 |
| IFT43 | 1 | May 31, 2018 |
| IFT74 | 1 | Nov 18, 2020 |
| IFT81 | 1 | Jul 3, 2018 |
| IL6ST | 2 | Jul 23, 2019 |
| KANK1 | 1 | Apr 9, 2019 |
| KIAA0586 | 1 | May 31, 2018 |
| KIAA0753 | 6 | Jul 25, 2019 |
| KIF7 | 1 | Mar 12, 2019 |
| LAMA2 | 1 | Apr 9, 2019 |
| LOC126862216 | 1 | Mar 12, 2019 |
| LOC129936979 | 1 | Apr 26, 2019 |
| LZTR1 | 2 | Jul 4, 2018 |
| MATN3 | 1 | Jul 3, 2018 |
| MBD5 | 1 | Apr 9, 2019 |
| MIR140 | 1 | Aug 2, 2017 |
| MLH1 | 1 | Apr 9, 2019 |
| MTRFR | 1 | Apr 9, 2019 |
| NID1 | 1 | Dec 17, 2018 |
| NKX2-1 | 1 | Apr 9, 2019 |
| NSD1 | 1 | Apr 9, 2019 |
| OPA1 | 1 | Feb 27, 2018 |
| PAX6 | 1 | Apr 17, 2018 |
| PNPT1 | 3 | Apr 9, 2019 |
| POLA2 | 3 | Jan 28, 2024 |
| POLG | 1 | Apr 9, 2019 |
| POLGARF | 1 | Apr 9, 2019 |
| PRDM16 | 1 | Dec 17, 2018 |
| PTEN | 1 | Apr 9, 2019 |
| RAB34 | 2 | Jun 28, 2023 |
| RPL13 | 3 | Jun 28, 2023 |
| RTTN | 1 | Apr 9, 2019 |
| SATB2 | 1 | Apr 9, 2019 |
| SFTA3 | 1 | Apr 9, 2019 |
| SMYD3 | 1 | Dec 17, 2018 |
| SPG7 | 1 | Feb 27, 2018 |
| SPOCK1 | 1 | Apr 9, 2019 |
| SPTA1 | 2 | Apr 9, 2019 |
| TBCK | 1 | Apr 9, 2019 |
| TOMM7 | 1 | May 3, 2022 |
| TRAF3IP1 | 1 | May 31, 2018 |
| UBE3B | 1 | Feb 27, 2018 |
| WDR19 | 6 | May 31, 2018 |
| WDR35 | 1 | May 31, 2018 |
| WDR35-DT | 1 | Jul 3, 2018 |
| WDR70 | 1 | May 8, 2018 |
| WWP2 | 1 | Aug 2, 2017 |
| ZIC2 | 2 | Apr 9, 2019 |