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Tay-Sachs disease, B1 variant

Disease Export to PDF
Name:
Tay-Sachs disease, B1 variant
ORPHAcode:
309239
Synonyms:
GM2 gangliosidosis, B1 variant
Hexosaminidase A deficiency, B1 variant
XREF(s):
Orphanet
ICD-10
Analyte(s):
HEXA
Created:
13 May 2019 - 01:02
Changed:
22 Jun 2023 - 16:14
  • Hot spot mutation among Jewish (4 genes, 7 mutations) - UZA
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    ASPA
    HEXA
    ELP1
    FANCC
  • Lysomal Storage (64 genes) - VUB
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    ADCY5 94.52 0 No comment
    AGA 100.00 0 No comment
    ARSA 100.00 0 No comment
    SLURP1 85.73 0 No comment
    ASAH1 99.94 0 No comment
    CHIT1 100.00 0 No comment
    CLN3 100.00 0 No comment
    CLN5 99.94 0 No comment
    CLN6 90.35 0 No comment
    CLN8 100.00 0 No comment
    CTNS 100.00 0 No comment
    CTSA 100.00 0 No comment
    CTSC 100.00 0 No comment
    CTSD 99.45 0 No comment
    CTSK 100.00 0 No comment
    DGUOK 100.00 0 No comment
    FBXL4 100.00 0 No comment
    FUCA1 100.00 0 No comment
    GAA 100.00 0 No comment
    GALC 98.44 0 No comment
    GALNS 96.18 0 No comment
    GBA1 100.00 0 No comment
    GLA 100.00 0 No comment
    GLB1 100.00 0 No comment
    GM2A 100.00 0 No comment
    GNPTAB 100.00 0 No comment
    GNPTG 94.69 0 No comment
    GNS 100.00 0 No comment
    GUSB 100.00 0 No comment
    HEXA 100.00 0 No comment
    HEXB 99.82 0 No comment
    HGSNAT 93.95 0 No comment
    HYAL1 100.00 0 No comment
    IDS 100.00 0 No comment
    IDUA 88.67 0 No comment
    LAMP2 100.00 0 No comment
    LIPA 100.00 0 No comment
    MAN2B1 100.00 0 No comment
    MANBA 99.97 0 No comment
    MCOLN1 97.27 0 No comment
    MFSD8 100.00 0 No comment
    MGME1 100.00 0 No comment
    MPV17 100.00 0 No comment
    NAGA 100.00 0 No comment
    NAGLU 87.38 0 No comment
    NEU1 100.00 0 No comment
    NPC1 98.40 0 No comment
    NPC2 100.00 0 No comment
    OCRL 99.77 0 No comment
    POLG 100.00 0 No comment
    PPT1 100.00 0 No comment
    PSAP 100.00 0 No comment
    RRM2B 100.00 0 No comment
    SGSH 99.99 0 No comment
    SLC17A5 100.00 0 No comment
    SMPD1 100.00 0 No comment
    STS 100.00 0 No comment
    SUCLA2 100.00 0 No comment
    SUCLG1 95.74 0 No comment
    SUMF1 100.00 0 No comment
    TK2 95.90 0 No comment
    ACD 100.00 0 No comment
    TWNK 100.00 0 No comment
    TYMP 91.72 0 No comment