- Analytes
- BPGM
BPGM
Name: |
bisphosphoglycerate mutase
|
Symbol: |
BPGM
|
Version of Orphanet: |
2023-06-22 14:14:43
|
XREF(s): | |
Created: |
13 May 2019 - 01:01
|
Changed: |
22 Jun 2023 - 16:14
|
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Erythocyoses, polycythémies, thrombocytoses congénitales (gene panel) - ULG
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments ANKRD26 0.00 0 BPGM 0.00 0 CSF1R 0.00 0 CSF3R 0.00 0 DDX41 0.00 0 EGLN1 0.00 0 ELANE 0.00 0 EPAS1 0.00 0 EPO 0.00 0 EPOR 0.00 0 GATA2 0.00 0 JAK1 0.00 0 JAK2 0.00 0 JAK3 0.00 0 MPL 0.00 0 PIEZO1 0.00 0 SLC30A10 0.00 0 STAT3 0.00 0 STAT5B 0.00 0 THPO 0.00 0 VHL 0.00 0 SH2B3 0.00 0 -
Hereditary Hemolytic Anemias (52 genes) - ULB
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments GYPA 93.49 0 hemolytic anemia HBG1 94.93 0 hemolytic anemia ADAMTS13 95.39 0 hemolytic anemia MYB 96.76 0 hemolytic anemia PFKFB1 97.48 0 hemolytic anemia PIEZO1 97.92 0 hemolytic anemia ADA 97.95 0 hemolytic anemia PIGA 98.95 0 hemolytic anemia CFHR1 99.06 0 hemolytic anemia GYPC 99.28 0 hemolytic anemia G6PD 99.40 0 hemolytic anemia CFHR3 99.87 0 hemolytic anemia PGK1 99.88 0 hemolytic anemia THBD 99.88 0 hemolytic anemia SPTB 99.90 0 hemolytic anemia TPI1 99.90 0 hemolytic anemia CDAN1 99.91 0 hemolytic anemia SEC23B 99.97 0 hemolytic anemia SPTA1 99.98 0 hemolytic anemia GPI 99.99 0 hemolytic anemia AK1 100.00 0 hemolytic anemia ALDOA 100.00 0 hemolytic anemia ANK1 100.00 0 hemolytic anemia BCL11A 100.00 0 hemolytic anemia BPGM 100.00 0 hemolytic anemia C3 100.00 0 hemolytic anemia CD46 100.00 0 hemolytic anemia CFB 100.00 0 hemolytic anemia CFH 100.00 0 hemolytic anemia CFHR4 100.00 0 hemolytic anemia CFI 100.00 0 hemolytic anemia DGKE 100.00 0 hemolytic anemia EPB41 100.00 0 hemolytic anemia EPB42 100.00 0 hemolytic anemia GATA1 100.00 0 hemolytic anemia GSS 100.00 0 hemolytic anemia HBB 100.00 0 hemolytic anemia HBG2 100.00 0 hemolytic anemia HK1 100.00 0 hemolytic anemia KLF1 100.00 0 hemolytic anemia NT5C3A 100.00 0 hemolytic anemia PIGT 100.00 0 hemolytic anemia PKLR 100.00 0 hemolytic anemia SLC4A1 100.00 0 hemolytic anemia STOM 100.00 0 hemolytic anemia UGT1A1 100.00 0 hemolytic anemia