Department of Clinical Genetics (Copenhagen University Hospital, Rigshospitalet), MGL_KC
General information
Department of Clinical Genetics, MGL_KC
Copenhagen University Hospital, Rigshospitalet
Glostrup
Hovedstaden
Denmark - DK-2600
http://www.rigshospitalet.dk/
Organization ID: 1147
Copenhagen University Hospital, Rigshospitalet
Glostrup
Hovedstaden
Denmark - DK-2600
http://www.rigshospitalet.dk/
Organization ID: 1147
Personnel
- Karen Gronskov, Principal Investigator
Phone: +45 43260156
Email: Karen.Groenskov@regionh.dk - Thomas v. O. Hansen, Principal Investigator
Phone: +45 35454062
Email: Thomas.Van.Overeem.Hansen@regionh.dk
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 789
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| ABCA4 | 79 | Dec 5, 2018 |
| ACO2 | 1 | May 2, 2022 |
| ACTB | 1 | May 2, 2022 |
| ACVRL1 | 1 | May 2, 2022 |
| ADCY5 | 1 | May 2, 2022 |
| ADGRA3 | 1 | Dec 5, 2018 |
| ADGRV1 | 2 | Dec 5, 2018 |
| ADPRS | 2 | May 2, 2022 |
| AIPL1 | 5 | Dec 5, 2018 |
| ALMS1 | 1 | Dec 5, 2018 |
| ANKRD11 | 7 | May 2, 2022 |
| APC | 1 | Jun 22, 2023 |
| AQP2 | 1 | May 2, 2022 |
| AQP5-AS1 | 1 | May 2, 2022 |
| ARID1B | 2 | May 2, 2022 |
| ARID2 | 1 | May 2, 2022 |
| ASPM | 1 | May 2, 2022 |
| ASXL3 | 1 | May 2, 2022 |
| ATM | 3 | Mar 21, 2024 |
| B4GALT7 | 2 | May 2, 2022 |
| B9D1 | 1 | May 2, 2022 |
| BAP1 | 1 | Jun 27, 2023 |
| BBS1 | 8 | Dec 5, 2018 |
| BBS10 | 2 | Dec 5, 2018 |
| BBS12 | 2 | Dec 5, 2018 |
| BBS2 | 4 | Dec 5, 2018 |
| BBS4 | 1 | Dec 5, 2018 |
| BBS5 | 1 | Dec 5, 2018 |
| BBS7 | 1 | Dec 5, 2018 |
| BBS9 | 2 | Dec 5, 2018 |
| BCL11A | 1 | May 2, 2022 |
| BCOR | 1 | May 2, 2022 |
| BEST1 | 19 | Dec 5, 2018 |
| BICD2 | 1 | May 2, 2022 |
| BLOC1S1-RDH5 | 1 | Dec 5, 2018 |
| BMPR1B | 1 | May 2, 2022 |
| BMPR2 | 1 | May 2, 2022 |
| BRCA2 | 3 | Mar 21, 2024 |
| C10orf105 | 1 | Dec 5, 2018 |
| CA4 | 1 | Dec 5, 2018 |
| CABP4 | 5 | Dec 5, 2018 |
| CACNA1A | 1 | Oct 5, 2022 |
| CACNA1F | 7 | Dec 5, 2018 |
| CACNA2D4 | 1 | Dec 5, 2018 |
| CACNG2 | 1 | May 2, 2022 |
| CAMTA1 | 1 | May 2, 2022 |
| CAPN3 | 1 | May 6, 2020 |
| CCDC22 | 1 | May 2, 2022 |
| CDH23 | 7 | Dec 5, 2018 |
| CDH23-AS1 | 1 | Dec 5, 2018 |
| CDH3 | 1 | Dec 5, 2018 |
| CDH3-AS1 | 1 | Dec 5, 2018 |
| CDHR1 | 3 | Dec 5, 2018 |
| CDK13 | 1 | May 2, 2022 |
| CEP152 | 1 | May 2, 2022 |
| CEP290 | 9 | Dec 5, 2018 |
| CERKL | 4 | Dec 5, 2018 |
| CHD8 | 1 | May 2, 2022 |
| CHM | 2 | Dec 5, 2018 |
| CHRNG | 2 | May 2, 2022 |
| CLCN4 | 2 | May 2, 2022 |
| CLRN1 | 1 | Dec 5, 2018 |
| CNGA1 | 3 | Dec 5, 2018 |
| CNGB1 | 11 | Dec 5, 2018 |
| CNGB3 | 7 | Dec 5, 2018 |
| CNKSR2 | 2 | May 2, 2022 |
| CNNM4 | 1 | Dec 5, 2018 |
| CNPY2 | 1 | May 2, 2022 |
| CNTNAP1 | 2 | May 2, 2022 |
| COL11A1 | 1 | May 2, 2022 |
| COL12A1 | 1 | May 2, 2022 |
| COL1A1 | 1 | May 2, 2022 |
| COL27A1 | 1 | May 2, 2022 |
| COL2A1 | 1 | May 2, 2022 |
| COL4A1 | 2 | May 2, 2022 |
| COL4A2 | 2 | May 2, 2022 |
| COL4A2-AS2 | 1 | May 2, 2022 |
| COL4A5 | 1 | May 2, 2022 |
| COL6A1 | 1 | Feb 15, 2023 |
| COL6A2 | 1 | May 2, 2022 |
| COL6A3 | 1 | May 2, 2022 |
| COMP | 1 | May 2, 2022 |
| COQ4 | 2 | May 2, 2022 |
| CRB1 | 17 | Dec 5, 2018 |
| CREBBP | 3 | May 2, 2022 |
| CRX | 7 | Dec 5, 2018 |
| CUL4B | 1 | May 2, 2022 |
| DCAF17 | 1 | May 2, 2022 |
| DMAP1 | 2 | May 2, 2022 |
| DNMT1 | 1 | May 2, 2022 |
| DOCK6 | 1 | May 2, 2022 |
| DONSON | 1 | May 2, 2022 |
| DSPP | 1 | May 2, 2022 |
| ECEL1 | 1 | May 2, 2022 |
| EDA | 1 | May 2, 2022 |
| EHMT1 | 1 | May 2, 2022 |
| ELN | 1 | May 2, 2022 |
| EPG5 | 2 | May 2, 2022 |
| EYS | 28 | Dec 5, 2018 |
| FAM161A | 4 | Dec 5, 2018 |
| FBXO11 | 2 | May 2, 2022 |
| FBXO7 | 1 | May 2, 2022 |
| FGD1 | 1 | May 2, 2022 |
| FLNA | 2 | May 2, 2022 |
| FLVCR1 | 2 | May 2, 2022 |
| FOXP1 | 2 | May 2, 2022 |
| FRAS1 | 2 | May 2, 2022 |
| GAN | 1 | May 2, 2022 |
| GDF6 | 1 | May 2, 2022 |
| GLI3 | 2 | May 2, 2022 |
| GNAS | 1 | May 2, 2022 |
| GNAT1 | 1 | Dec 5, 2018 |
| GOSR2 | 2 | Feb 16, 2021 |
| GPHN | 5 | Dec 5, 2018 |
| GPR179 | 2 | Dec 5, 2018 |
| GRIN2A | 1 | May 2, 2022 |
| GRIN2B | 1 | May 2, 2022 |
| GRK1 | 1 | Dec 5, 2018 |
| GRM6 | 4 | Dec 5, 2018 |
| GUCA1A | 2 | Dec 5, 2018 |
| GUCA1ANB-GUCA1A | 2 | Dec 5, 2018 |
| GUCY2D | 6 | May 2, 2022 |
| H1-4 | 1 | May 2, 2022 |
| HARS2 | 5 | May 20, 2019 |
| HEXB | 1 | May 2, 2022 |
| HMGA2 | 1 | May 2, 2022 |
| HNF4A | 1 | May 2, 2022 |
| HSPG2 | 2 | May 2, 2022 |
| HUWE1 | 1 | May 2, 2022 |
| HYCC1 | 1 | May 2, 2022 |
| IDH3A | 1 | May 2, 2022 |
| IDH3B | 1 | Dec 5, 2018 |
| IDUA | 1 | May 2, 2022 |
| IGF2 | 1 | May 2, 2022 |
| IMPA1 | 1 | May 2, 2022 |
| IMPDH1 | 4 | Dec 5, 2018 |
| IMPG2 | 3 | Dec 5, 2018 |
| INS-IGF2 | 1 | May 2, 2022 |
| IQCB1 | 2 | Dec 5, 2018 |
| IRF2BPL | 1 | May 2, 2022 |
| JMJD8 | 1 | May 2, 2022 |
| KARS1 | 2 | May 2, 2022 |
| KAT6B | 1 | May 2, 2022 |
| KCNT2 | 1 | May 2, 2022 |
| KCNV2 | 2 | Dec 5, 2018 |
| KDM5C | 1 | May 2, 2022 |
| KDM6A | 1 | May 2, 2022 |
| KIF11 | 1 | May 2, 2022 |
| KMT2A | 3 | May 2, 2022 |
| KMT2B | 1 | May 2, 2022 |
| KMT2C | 1 | May 2, 2022 |
| KMT2D | 1 | May 2, 2022 |
| KMT5B | 1 | May 2, 2022 |
| LAMP2 | 1 | May 2, 2022 |
| LETM1 | 1 | May 2, 2022 |
| LINS1 | 1 | May 2, 2022 |
| LOC100506235 | 1 | May 2, 2022 |
| LOC101927157 | 3 | Dec 5, 2018 |
| LOC111828517 | 1 | Dec 5, 2018 |
| LOC121740638 | 1 | May 2, 2022 |
| LOC122152296 | 1 | Dec 5, 2018 |
| LOC126805793 | 10 | Dec 5, 2018 |
| LOC126805794 | 1 | Dec 5, 2018 |
| LOC126807125 | 1 | May 2, 2022 |
| LOC126860392 | 1 | Dec 5, 2018 |
| LOC126860736 | 1 | May 2, 2022 |
| LOC126861242 | 1 | May 2, 2022 |
| LOC126861520 | 1 | May 2, 2022 |
| LOC126862578 | 1 | Feb 16, 2021 |
| LOC130003079 | 1 | May 2, 2022 |
| LOC130062794 | 1 | May 2, 2022 |
| LOC130068098 | 1 | Dec 5, 2018 |
| LOC130068202 | 2 | Dec 5, 2018 |
| LOX | 2 | May 2, 2022 |
| LRAT | 1 | Dec 5, 2018 |
| LRRC37A2 | 2 | Feb 16, 2021 |
| MAK | 2 | Dec 5, 2018 |
| MAN1B1 | 1 | May 2, 2022 |
| MAST1 | 1 | May 2, 2022 |
| MCOLN1 | 2 | May 2, 2022 |
| MEA1 | 1 | May 2, 2022 |
| MECP2 | 1 | May 2, 2022 |
| MED13L | 1 | May 2, 2022 |
| MERTK | 8 | Dec 5, 2018 |
| MKKS | 3 | Dec 5, 2018 |
| MKS1 | 2 | Dec 5, 2018 |
| MMP13 | 1 | May 2, 2022 |
| MRPL39 | 1 | Mar 24, 2022 |
| MSH2 | 1 | Jan 10, 2024 |
| MSX2 | 1 | May 2, 2022 |
| MT-TE | 1 | Jan 13, 2021 |
| MYCN | 1 | May 2, 2022 |
| MYCNOS | 1 | May 2, 2022 |
| MYH3 | 2 | May 2, 2022 |
| MYLK | 1 | Jun 22, 2023 |
| MYO7A | 7 | Dec 5, 2018 |
| NAA15 | 1 | May 2, 2022 |
| NDUFA8 | 2 | May 2, 2022 |
| NDUFV1 | 2 | May 2, 2022 |
| NEB | 1 | May 2, 2022 |
| NOD2 | 1 | May 2, 2022 |
| NONO | 1 | May 2, 2022 |
| NOTCH2 | 1 | Jan 22, 2019 |
| NPHP1 | 1 | May 2, 2022 |
| NPHP3 | 1 | May 2, 2022 |
| NPHP3-ACAD11 | 1 | May 2, 2022 |
| NPHP3-AS1 | 1 | May 2, 2022 |
| NR2E3 | 7 | Dec 5, 2018 |
| NSD2 | 1 | May 2, 2022 |
| OTOA | 1 | May 2, 2022 |
| PACS2 | 1 | May 2, 2022 |
| PBX1 | 1 | May 2, 2022 |
| PCARE | 3 | Dec 5, 2018 |
| PCDH12 | 1 | May 2, 2022 |
| PCDH15 | 2 | Dec 5, 2018 |
| PDE6A | 9 | Dec 5, 2018 |
| PDE6B | 11 | Dec 5, 2018 |
| PDE6B-AS1 | 1 | Dec 5, 2018 |
| PDGFB | 1 | May 2, 2022 |
| PHF3 | 4 | Dec 5, 2018 |
| PIK3CA | 1 | May 2, 2022 |
| PIK3R1 | 2 | Jun 13, 2022 |
| PITPNM3 | 2 | Dec 5, 2018 |
| PMS2 | 1 | Mar 21, 2024 |
| POLR2F | 7 | May 5, 2021 |
| POLR3H | 1 | May 2, 2022 |
| POU3F3 | 1 | Oct 27, 2022 |
| PPP1R12A | 1 | May 2, 2022 |
| PPP2CA | 1 | May 2, 2022 |
| PPP2R5D | 1 | May 2, 2022 |
| PRMT7 | 1 | May 2, 2022 |
| PROM1 | 6 | Dec 5, 2018 |
| PRPF31 | 15 | Dec 5, 2018 |
| PRPF31-AS1 | 5 | Dec 5, 2018 |
| PRPF8 | 1 | Dec 5, 2018 |
| PRPH2 | 18 | Dec 5, 2018 |
| PSMD12 | 1 | May 2, 2022 |
| PTEN | 1 | Jun 22, 2023 |
| PTPN11 | 1 | May 2, 2022 |
| PURA | 1 | May 2, 2022 |
| RAB28 | 1 | Dec 5, 2018 |
| RAB39B | 1 | May 2, 2022 |
| RAI1 | 3 | May 2, 2022 |
| RDH12 | 5 | Dec 5, 2018 |
| RDH5 | 1 | Dec 5, 2018 |
| RGS9 | 1 | Dec 5, 2018 |
| RHO | 13 | Dec 5, 2018 |
| RIF1 | 1 | May 2, 2022 |
| RLBP1 | 1 | Dec 5, 2018 |
| RNF14 | 1 | May 2, 2022 |
| ROM1 | 1 | Dec 5, 2018 |
| ROR2 | 2 | May 2, 2022 |
| RP1 | 15 | Dec 5, 2018 |
| RP2 | 6 | Dec 5, 2018 |
| RPE65 | 4 | Dec 5, 2018 |
| RPGR | 13 | Dec 5, 2018 |
| RPGRIP1 | 1 | Dec 5, 2018 |
| RYR1 | 1 | May 2, 2022 |
| SACS | 1 | May 2, 2022 |
| SAG | 1 | Dec 5, 2018 |
| SALL1 | 3 | May 2, 2022 |
| SASS6 | 1 | May 2, 2022 |
| SC5D | 2 | May 2, 2022 |
| SCN8A | 1 | May 2, 2022 |
| SCUBE3 | 1 | May 2, 2022 |
| SETD2 | 1 | May 2, 2022 |
| SETD5 | 3 | May 2, 2022 |
| SKI | 1 | May 2, 2022 |
| SLC25A46 | 2 | May 2, 2022 |
| SLC34A1 | 1 | May 2, 2022 |
| SLC39A8 | 2 | May 2, 2022 |
| SLC52A2 | 1 | May 2, 2022 |
| SMC1A | 1 | May 2, 2022 |
| SMOC2 | 1 | May 2, 2022 |
| SNHG14 | 1 | May 2, 2022 |
| SNRNP200 | 2 | Dec 5, 2018 |
| SOX10 | 7 | May 5, 2021 |
| SOX2 | 1 | May 2, 2022 |
| SOX2-OT | 1 | May 2, 2022 |
| SOX3 | 1 | Oct 16, 2017 |
| SPTAN1 | 1 | May 2, 2022 |
| SRFBP1 | 2 | May 2, 2022 |
| ST3GAL5 | 1 | May 2, 2022 |
| STIL | 2 | May 2, 2022 |
| STIM1 | 1 | May 2, 2022 |
| STRA6 | 1 | May 2, 2022 |
| STUB1 | 1 | May 2, 2022 |
| SZT2 | 1 | May 2, 2022 |
| TAF1 | 1 | May 2, 2022 |
| TAFAZZIN | 1 | May 2, 2022 |
| TARS2 | 9 | May 2, 2022 |
| TBL1XR1 | 1 | May 2, 2022 |
| TCF20 | 2 | May 2, 2022 |
| TCF4 | 2 | May 2, 2022 |
| TFAP2A | 1 | May 2, 2022 |
| TFAP2A-AS2 | 1 | May 2, 2022 |
| TOPORS | 2 | Dec 5, 2018 |
| TP53 | 1 | Oct 27, 2023 |
| TRAF7 | 1 | May 2, 2022 |
| TRIO | 3 | May 2, 2022 |
| TRPM1 | 2 | Dec 5, 2018 |
| TSC2 | 2 | May 2, 2022 |
| TTC8 | 3 | Dec 5, 2018 |
| TUBB2B | 1 | May 2, 2022 |
| TUBB3 | 1 | May 2, 2022 |
| TULP1 | 3 | Dec 5, 2018 |
| TWNK | 1 | May 2, 2022 |
| TXNL4A | 2 | May 2, 2022 |
| UBAP1 | 1 | May 2, 2022 |
| UBE3A | 1 | May 2, 2022 |
| UGT1A | 2 | May 2, 2022 |
| UGT1A1 | 2 | May 2, 2022 |
| UGT1A10 | 2 | May 2, 2022 |
| UGT1A3 | 2 | May 2, 2022 |
| UGT1A4 | 2 | May 2, 2022 |
| UGT1A5 | 2 | May 2, 2022 |
| UGT1A6 | 2 | May 2, 2022 |
| UGT1A7 | 2 | May 2, 2022 |
| UGT1A8 | 2 | May 2, 2022 |
| UGT1A9 | 2 | May 2, 2022 |
| USH1C | 1 | Dec 5, 2018 |
| USH2A | 55 | Oct 25, 2021 |
| USH2A-AS1 | 3 | Dec 5, 2018 |
| USH2A-AS2 | 7 | Dec 5, 2018 |
| VLDLR | 1 | May 2, 2022 |
| WAC | 1 | May 2, 2022 |
| WDR26 | 1 | May 2, 2022 |
| WDR62 | 2 | May 2, 2022 |
| WHRN | 1 | Dec 5, 2018 |
| YARS1 | 1 | May 2, 2022 |
| YY1 | 1 | May 2, 2022 |
| YY1AP1 | 1 | May 2, 2022 |
| ZBTB18 | 1 | May 2, 2022 |
| ZDHHC24 | 8 | Dec 5, 2018 |
| ZEB2 | 1 | Sep 1, 2023 |
| ZFYVE26 | 1 | Dec 5, 2018 |
| ZMYND11 | 1 | May 2, 2022 |
| ZNF142 | 2 | May 2, 2022 |
| ZNF41 | 1 | May 2, 2022 |
| ZNF454 | 2 | Dec 5, 2018 |
| ZNF469 | 1 | May 2, 2022 |
Condition
Testing in GTR
| Disease name | Number of tests |
|---|---|
| 11p partial monosomy syndrome | 1 test |
| 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency | 1 test |
| Aniridia 1 | 2 tests |
| Anophthalmia-microphthalmia syndrome | 1 test |
| Anophthalmia/microphthalmia-esophageal atresia syndrome | 1 test |
| Anterior segment anomalies with or without cataract | 1 test |
| Anterior segment dysgenesis 1 | 2 tests |
| Autosomal dominant optic atrophy classic form | 1 test |
| Autosomal recessive DOPA responsive dystonia | 1 test |
| Axenfeld-Rieger syndrome | 1 test |
| Axenfeld-Rieger syndrome type 1 | 3 tests |
| Axenfeld-Rieger syndrome type 3 | 3 tests |
| Beckwith-Wiedemann syndrome | 1 test |
| Brain small vessel disease 1 with or without ocular anomalies | 2 tests |
| Branchiooculofacial syndrome | 1 test |
| Cataract 23 | 1 test |
| Cornea plana 2 | 1 test |
| Cornelia de Lange syndrome 1 | 1 test |
| Cornelia de Lange syndrome 3 | 1 test |
| Cornelia de Lange syndrome 4 | 1 test |
| Cornelia de Lange syndrome 5 | 1 test |
| Dihydropteridine reductase deficiency | 1 test |
| Dopa-responsive dystonia due to sepiapterin reductase deficiency | 1 test |
| Early-onset generalized limb-onset dystonia | 1 test |
| Focal dermal hypoplasia | 2 tests |
| Focal segmental glomerulosclerosis 7 | 1 test |
| Frontonasal dysplasia - severe microphthalmia - severe facial clefting syndrome | 1 test |
| GTP cyclohydrolase I deficiency | 1 test |
| Glaucoma 1, open angle, A | 1 test |
| Glaucoma 3A | 1 test |
| Intellectual disability, X-linked, with or without seizures, arx-related | 1 test |
| Irido-corneo-trabecular dysgenesis | 2 tests |
| Leber congenital amaurosis 2 | 1 test |
| Linear skin defects with multiple congenital anomalies 1 | 1 test |
| Menkes kinky-hair syndrome | 1 test |
| Nance-Horan syndrome | 1 test |
| Oculocutaneous albinism | 1 test |
| Oculocutaneous albinism type 1 | 2 tests |
| Oculocutaneous albinism type 1B | 1 test |
| Oculocutaneous albinism type 3 | 2 tests |
| Oculocutaneous albinism type 4 | 2 tests |
| Oculocutaneous albinism type 5 | 1 test |
| Oculocutaneous albinism type 6 | 1 test |
| Oculocutaneous albinism type 7 | 1 test |
| Oculotrichoanal syndrome | 1 test |
| Optic atrophy | 1 test |
| Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy | 1 test |
| Pallister-Hall syndrome | 1 test |
| Peters plus syndrome | 2 tests |
| Phenylketonuria | 1 test |
| Pierson syndrome | 1 test |
| Primary Open Angle Glaucoma (Adult Onset) | 1 test |
| Russell-Silver syndrome | 1 test |
| Silver-Russell syndrome 1 | 2 tests |
| Silver-Russell syndrome due to an imprinting defect of 11p15 | 1 test |
| Syndromic microphthalmia | 1 test |
| Syndromic microphthalmia type 5 | 1 test |
| Torsion dystonia 6 | 1 test |
| Tuberous sclerosis 1 | 1 test |
| Tuberous sclerosis 2 | 1 test |
| Tyrosinase-negative oculocutaneous albinism | 1 test |
| Tyrosinase-positive oculocutaneous albinism | 2 tests |
| West syndrome | 1 test |
| Wilson disease | 1 test |
| X-linked lissencephaly with abnormal genitalia | 1 test |