1. Analytes
  2. SPTB

SPTB

Analyte Export to PDF
Name:
spectrin beta, erythrocytic
Symbol:
SPTB
Version of Orphanet:
2023-06-22 14:14:43
Synonyms:
spherocytosis, clinical type I
XREF(s):
Orphanet
Ensembl
Genatlas
HGNC
OMIM
Reactome
SwissProt
Created:
13 May 2019 - 01:01
Changed:
22 Jun 2023 - 16:14
  • 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