Centre for Inherited Metabolic Diseases (Karolinska University Hospital)
General information
Centre for Inherited Metabolic Diseases
Karolinska University Hospital
CMMS L7:05
Stockholm
Sweden - 17176
http://www.karolinska.se/cmms
Organization ID: 319999
Karolinska University Hospital
CMMS L7:05
Stockholm
Sweden - 17176
http://www.karolinska.se/cmms
Organization ID: 319999
Personnel
- Michela Barbaro, Coordinator
Phone: +46725991076
Email: michela.barbaro@sll.se - Helene Bruhn, Staff
Phone: +46725991076
Email: helene.bruhn@regionstockholm.se - Leif Karlsson, Staff
Phone: +46851771450
Email: leif.e.karlsson@sll.se - Nicole Lesko, Staff
Phone: +46812371457
Email: nicole.lesko@regionstockholm.se - Henrik Stranneheim, Informatics staff
Phone: +46851771440
Email: henrik.stranneheim@ki.se - Malin Ueberschär, Staff
Phone: +46725991076
Email: malin.ueberschar@regionstockholm.se - Anna Wedell, Principal Investigator
Phone: +46851771440
Email: Anna.Wedell@ki.se
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 193
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| AASS | 2 | Mar 25, 2021 |
| ACADS | 1 | Mar 23, 2021 |
| ACADVL | 2 | Apr 13, 2021 |
| ACAT1 | 1 | Aug 1, 2024 |
| ADA2 | 1 | Mar 23, 2021 |
| ADK | 1 | May 3, 2017 |
| AGL | 1 | Oct 17, 2022 |
| AKR1D1 | 1 | Apr 13, 2021 |
| ALDOB | 1 | Apr 7, 2021 |
| ALG6 | 1 | Apr 13, 2021 |
| AMT | 2 | Mar 12, 2021 |
| ARHGEF9 | 2 | May 9, 2023 |
| ARSA | 4 | Mar 25, 2021 |
| ASL | 1 | Feb 21, 2024 |
| ASS1 | 2 | Jul 30, 2024 |
| ASXL3 | 1 | Mar 11, 2024 |
| ATAD3A | 1 | Oct 10, 2022 |
| ATM | 2 | Mar 1, 2024 |
| ATP1A2 | 2 | May 9, 2023 |
| ATP2B2 | 2 | Aug 1, 2024 |
| ATP7A | 2 | Apr 13, 2021 |
| ATP8B1 | 1 | May 16, 2023 |
| ATXN7L3-AS1 | 1 | Apr 13, 2021 |
| BCKDHB | 2 | Apr 13, 2021 |
| BCL11A | 1 | Oct 17, 2022 |
| BCOR | 1 | May 24, 2024 |
| BRAF | 1 | Apr 13, 2021 |
| C11orf65 | 2 | Mar 1, 2024 |
| CARD14 | 1 | Mar 25, 2021 |
| CDKL5 | 1 | Nov 29, 2023 |
| CFAP96 | 2 | Nov 29, 2023 |
| CHD2 | 2 | Jan 31, 2023 |
| CHRNA4 | 1 | Apr 13, 2021 |
| CLN6 | 2 | Apr 13, 2021 |
| COA8 | 1 | May 15, 2023 |
| COQ7 | 1 | Mar 1, 2024 |
| COQ8A | 2 | Mar 20, 2024 |
| CUBN | 1 | Aug 1, 2024 |
| DBT | 4 | Jun 25, 2020 |
| DVL2 | 2 | Apr 13, 2021 |
| EIF2B5 | 3 | Mar 11, 2024 |
| ELAC2 | 1 | Mar 11, 2024 |
| ETFDH | 1 | Aug 1, 2024 |
| FGF13 | 1 | Oct 7, 2022 |
| FRMD5 | 1 | May 9, 2023 |
| GABRA1 | 1 | Nov 22, 2022 |
| GALC | 2 | Apr 7, 2021 |
| GALNS | 3 | Apr 7, 2021 |
| GAREM2 | 1 | Apr 7, 2021 |
| GCK | 2 | Apr 4, 2024 |
| GFAP | 1 | Feb 27, 2024 |
| GLUL | 2 | Mar 25, 2021 |
| GNB1 | 1 | Dec 1, 2022 |
| GRIN1 | 1 | Nov 3, 2022 |
| GSS | 1 | Mar 23, 2021 |
| HADHA | 1 | Apr 7, 2021 |
| HGSNAT | 1 | Apr 7, 2021 |
| HNF1A | 2 | Dec 7, 2022 |
| HSD17B10 | 1 | May 16, 2023 |
| IRF2BPL | 1 | Jan 19, 2023 |
| ISCU | 1 | Apr 7, 2021 |
| ITPR1 | 2 | Apr 7, 2021 |
| KARS1 | 2 | Nov 22, 2022 |
| KCNH5 | 1 | Oct 17, 2023 |
| KCNQ2 | 1 | Oct 12, 2022 |
| KCNT1 | 1 | Apr 26, 2021 |
| LARS1 | 3 | Oct 30, 2023 |
| LIPA | 1 | Apr 7, 2021 |
| LIPT2 | 1 | May 16, 2023 |
| LIPT2-AS1 | 1 | May 16, 2023 |
| LOC102724058 | 9 | Aug 1, 2024 |
| LOC126805890 | 1 | Jan 31, 2023 |
| LOC126805944 | 1 | Mar 25, 2021 |
| LOC126806368 | 1 | Jul 23, 2024 |
| LOC126806590 | 1 | Apr 7, 2021 |
| LOC126806913 | 1 | Nov 22, 2022 |
| LOC126860498 | 1 | Jul 23, 2024 |
| LOC126863239 | 1 | May 24, 2024 |
| LPIN1 | 1 | Apr 7, 2021 |
| MAST1 | 1 | May 9, 2023 |
| MAT1A | 1 | Apr 7, 2021 |
| MCCC2 | 1 | Feb 27, 2024 |
| MEA1 | 1 | Apr 13, 2021 |
| MFSD8 | 2 | Apr 7, 2021 |
| MMAA | 1 | Apr 7, 2021 |
| MMADHC | 1 | Jul 23, 2024 |
| MMUT | 4 | Oct 17, 2023 |
| MPV17 | 2 | Mar 1, 2024 |
| MTHFR | 1 | Apr 7, 2021 |
| MTR | 3 | Mar 25, 2021 |
| NDUFB7 | 1 | Feb 25, 2021 |
| NF1 | 1 | Aug 1, 2024 |
| NKX6-2 | 1 | May 9, 2023 |
| NPC1 | 3 | Apr 7, 2021 |
| NR2F1 | 1 | Mar 11, 2024 |
| NR2F1-AS1 | 1 | Mar 11, 2024 |
| NUS1 | 1 | Oct 17, 2023 |
| OPA1 | 1 | Nov 22, 2022 |
| OPLAH | 1 | Mar 23, 2021 |
| PAH | 1 | Feb 21, 2024 |
| PC | 1 | Jun 14, 2022 |
| PCCA | 1 | Mar 16, 2021 |
| PCDH19 | 1 | Feb 27, 2024 |
| PEX1 | 1 | May 9, 2023 |
| PHKA2 | 1 | Oct 7, 2022 |
| PIGA | 1 | Apr 13, 2021 |
| PIGT | 1 | Mar 20, 2024 |
| PMM2 | 6 | Apr 28, 2020 |
| POLR3A | 2 | Apr 13, 2021 |
| PPP2R5D | 1 | Apr 13, 2021 |
| PPT1 | 2 | Apr 13, 2021 |
| PREPL | 1 | Apr 13, 2021 |
| PRSS1 | 1 | Apr 13, 2021 |
| PYCR2 | 1 | Mar 20, 2024 |
| RAB3GAP1 | 1 | Mar 1, 2024 |
| RNASEH1 | 1 | Apr 13, 2021 |
| SACS | 2 | Mar 20, 2024 |
| SCN1A | 15 | Aug 1, 2024 |
| SCN8A | 2 | Nov 29, 2023 |
| SERAC1 | 1 | Mar 1, 2024 |
| SGSH | 3 | Mar 25, 2021 |
| SLC12A5 | 2 | Mar 1, 2024 |
| SLC20A2 | 1 | Apr 13, 2021 |
| SLC3A1 | 3 | Apr 13, 2021 |
| SLC4A11 | 2 | Oct 17, 2023 |
| SQSTM1 | 1 | Mar 20, 2024 |
| STXBP1 | 1 | May 24, 2024 |
| SUCLA2 | 1 | May 15, 2023 |
| TBCK | 1 | Mar 20, 2024 |
| TBL1XR1 | 1 | Oct 24, 2023 |
| TCN2 | 1 | Jul 30, 2024 |
| TRB | 1 | Apr 13, 2021 |
| TSC2 | 1 | Oct 7, 2022 |
| UBTF | 1 | Apr 13, 2021 |
| UFSP2 | 2 | Nov 29, 2023 |
| UGT1A | 1 | Jan 31, 2023 |
| UGT1A1 | 1 | Jan 31, 2023 |
| UGT1A10 | 1 | Jan 31, 2023 |
| UGT1A3 | 1 | Jan 31, 2023 |
| UGT1A4 | 1 | Jan 31, 2023 |
| UGT1A5 | 1 | Jan 31, 2023 |
| UGT1A6 | 1 | Jan 31, 2023 |
| UGT1A7 | 1 | Jan 31, 2023 |
| UGT1A8 | 1 | Jan 31, 2023 |
| UGT1A9 | 1 | Jan 31, 2023 |
| USH2A | 2 | Mar 25, 2021 |
| WASHC5 | 1 | Jul 23, 2024 |
| WDR45 | 1 | Oct 17, 2023 |
| WWOX | 1 | May 24, 2024 |
| XDH | 1 | Mar 16, 2021 |
Condition
Testing in GTR
| Disease name | Number of tests |
|---|---|
| Acute intermittent porphyria | 1 test |
| Adenosine kinase deficiency | 1 test |
| Biotin-responsive basal ganglia disease | 1 test |
| Biotinidase deficiency | 1 test |
| Carnitine palmitoyltransferase II deficiency | 1 test |
| Cobalamin C disease | 1 test |
| Creatine transporter deficiency | 1 test |
| Cutaneous porphyria | 1 test |
| Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase | 1 test |
| Deficiency of galactokinase | 1 test |
| Developmental and epileptic encephalopathy, 39 | 1 test |
| Fabry disease | 1 test |
| Familial porphyria cutanea tarda | 1 test |
| Glutaric aciduria, type 1 | 1 test |
| Hereditary coproporphyria | 1 test |
| Hereditary fructosuria | 1 test |
| Homocystinuria due to methylene tetrahydrofolate reductase deficiency | 1 test |
| Homocystinuria, cblD type, variant 1 | 1 test |
| Infantile onset spinocerebellar ataxia | 1 test |
| Inherited glutathione synthetase deficiency | 1 test |
| Isovaleryl-CoA dehydrogenase deficiency | 1 test |
| Leigh Syndrome (nuclear DNA mutation) | 1 test |
| MERRF syndrome | 1 test |
| Medium-chain acyl-coenzyme A dehydrogenase deficiency | 1 test |
| Methylmalonic acidemia | 1 test |
| Methylmalonic aciduria and homocystinuria type cblF | 1 test |
| Mitochondrial DNA Deletion Syndromes | 1 test |
| Mitochondrial DNA depletion syndrome 1 | 1 test |
| Mitochondrial DNA depletion syndrome 3 (hepatocerebral type) | 1 test |
| Mitochondrial DNA depletion syndrome 6 (hepatocerebral type) | 1 test |
| Mitochondrial DNA depletion syndrome, myopathic form | 1 test |
| Mitochondrial disease | 1 test |
| Mitochondrial trifunctional protein deficiency | 1 test |
| Mucopolysaccharidosis type 1 | 1 test |
| Myoglobinuria, acute recurrent, autosomal recessive | 1 test |
| Peroxisome biogenesis disorder | 1 test |
| Progressive sclerosing poliodystrophy | 1 test |
| Protoporphyria, erythropoietic, 1 | 1 test |
| Pyruvate dehydrogenase E1-alpha deficiency | 1 test |
| Renal carnitine transport defect | 1 test |
| Variegate porphyria | 1 test |
| Very long chain acyl-CoA dehydrogenase deficiency | 1 test |