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  2. NON RARE IN EUROPE: Heterozygous familial hypercholesterolemia

NON RARE IN EUROPE: Heterozygous familial hypercholesterolemia

Disease Export to PDF
Name:
NON RARE IN EUROPE: Heterozygous familial hypercholesterolemia
ORPHAcode:
406
Synonyms:
HeFH
XREF(s):
Orphanet
Analyte(s):
STAP1
APOB
APOE
LDLR
PCSK9
LIPA
Created:
20 Aug 2021 - 01:14
Changed:
22 Jun 2023 - 16:14
  • Metabolic diseases with hepatic disorders (20 genes) - UCL
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    ATP7B 100.00 1 Part of Custom Gastro-pneumo panel
    CPT1A 100.00 1 Part of Custom Gastro-pneumo panel
    CYP27A1 100.00 1 Part of Custom Gastro-pneumo panel
    DGUOK 100.00 1 Part of Custom Gastro-pneumo panel
    DHCR7 100.00 1 Part of Custom Gastro-pneumo panel
    EHHADH 100.00 1 Part of Custom Gastro-pneumo panel
    GBE1 100.00 1 Part of Custom Gastro-pneumo panel
    GNAS 0.00 1 Part of Custom Gastro-pneumo panel / only Exons 8 and 9
    GUSB 100.00 1 Part of Custom Gastro-pneumo panel
    LIPA 100.00 1 Part of Custom Gastro-pneumo panel
    MPV17 100.00 1 Part of Custom Gastro-pneumo panel
    NEU1 100.00 1 Part of Custom Gastro-pneumo panel
    NPC1 100.00 1 Part of Custom Gastro-pneumo panel
    NPC2 100.00 1 Part of Custom Gastro-pneumo panel
    POLG 100.00 1 Part of Custom Gastro-pneumo panel
    SI 100.00 1 Part of Custom Gastro-pneumo panel
    SLC25A13 100.00 1 Part of Custom Gastro-pneumo panel
    SMPD1 100.00 1 Part of Custom Gastro-pneumo panel
    TALDO1 100.00 1 Part of Custom Gastro-pneumo panel
    TRMU 100.00 1 Part of Custom Gastro-pneumo panel