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Pfeiffer syndrome type 1

Disease Export to PDF
Name:
Pfeiffer syndrome type 1
Description:
Pfeiffer syndrome type 1 (PS1) is a mild to moderately severe type of Pfeiffer syndrome (PS; see this term), characterized by bicoronal craniosynostosis, variable finger and toe malformations, and in most cases, normal intellectual development.
ORPHAcode:
93258
Synonyms:
Classic Pfeiffer syndrome
XREF(s):
Orphanet
OMIM
ICD-10
Analyte(s):
FGFR1
FGFR2
Created:
13 May 2019 - 01:02
Changed:
22 Jun 2023 - 16:14
  • Craniosynostosis (32 genes) - KUL
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    ASXL1 95.00 0 NM_015338.6/ interpretable range CS1>95%
    COLEC10 95.00 0 NM_006438.5/ interpretable range CS1>95%
    COLEC11 95.00 0 NM_024027.5/ interpretable range CS1>95%
    CYP26B1 95.00 0 NM_019885.4/ interpretable range CS1>95%
    EFNB1 95.00 0 NM_004429.5/ interpretable range CS1>95%
    ERF 95.00 0 NM_006494.4/ interpretable range CS1>95%
    FAM111A 95.00 0 NM_022074.4/ interpretable range CS1>95%
    FGFR1 95.00 0 NM_023110.3/ interpretable range CS1>95%
    FGFR2 95.00 0 NM_000141.5/ interpretable range CS1>95%
    FGFR3 95.00 0 NM_000142.5/ interpretable range CS1>95%
    HNRNPK 95.00 0 NM_002140.5/ interpretable range CS1>95%
    IL11RA 95.00 0 NM_001142784.3/ interpretable range CS1>95%
    IL6ST 95.00 0 NM_002184.4/ interpretable range CS1>95%
    LTBP1 95.00 0 NM_206943.4/ interpretable range CS1>95%
    MASP1 95.00 0 NM_139125.4/ interpretable range CS1>95%
    MEGF8 95.00 0 NM_001410.3/ interpretable range CS1>95%
    MSX2 95.00 0 NM_002449.5/ interpretable range CS1>95%
    POR 95.00 0 NM_001367562.3/ interpretable range CS1>95%
    RAB23 95.00 0 RAB23 NM_183227.3/ interpretable range CS1>95%
    RECQL4 95.00 0 NM_004260.4/ interpretable range CS1>95%
    RUNX2 95.00 0 NM_001024630.4/ interpretable range CS1>95%
    SIX1 95.00 0 NM_005982.4/ interpretable range CS1>95%
    SKI 95.00 0 SKI NM_003036.4/ interpretable range CS1>95%
    SLC25A24 95.00 0 NM_013386.5/ interpretable range CS1>95%
    SMAD6 95.00 0 NM_005585.5/ interpretable range CS1>95%
    SMO 95.00 0 NM_005631.5/ interpretable range CS1>95%
    TCF12 95.00 0 NM_207036.2/ interpretable range CS1>95%
    TFAP2B 95.00 0 NM_003221.4/ interpretable range CS1>95%
    TRAF7 95.00 0 NM_032271.3/ interpretable range CS1>95%
    TWIST1 95.00 0 NM_000474.4/ interpretable range CS1>95%
    ZIC1 95.00 0 NM_003412.4/ interpretable range CS1>95%
    ZNF462 95.00 0 NM_021224.6/ interpretable range CS1>95%