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Heterozygous familial hypercholesterolemia (NON RARE IN EUROPE)

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Name:
Heterozygous familial hypercholesterolemia (NON RARE IN EUROPE)
ORPHAcode:
406
XREF(s):
ORPHANET
Created:
24 Sep 2020 - 17:11
Changed:
24 Sep 2020 - 17:14
  • Familial Hypercholesterolemia panel (8 genes) - UZA
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    LDLR
    APOB
    APOE
    PCSK9
    LDLRAP1
    LIPA
    ABCG5
    ABCG8
  • Familial Hypercholesterolemia panel (9 genes) - ULG
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    LDLR 100.00 1 only for 5'UTR + coding exons + intronic borders +/-14pb
    APOB 99.79 0 only for coding exons and intronic borders +/-14pb Exons 26 and 29 are entirely covered at 30x Exon 1 is not covered
    APOE 100.00 0 only for coding exons and intronic borders +/-14pb
    PCSK9 100.00 0 only for coding exons and intronic borders +/-14pb
    LDLRAP1 98.69 0 only for coding exons and intronic borders +/-14pb exon 1 is not covered
    LIPA 100.00 0 only for coding exons and intronic borders +/-14pb
    ABCG5 100.00 0 only for coding exons and intronic borders +/-14pb
    ABCG8 100.00 0 only for coding exons and intronic borders +/-14pb
    STAP1 100.00 0 only for coding exons and intronic borders +/-14pb