- Diseases
- Carpenter syndrome
Carpenter syndrome
Name: |
Carpenter syndrome
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Description: |
A rare syndromic craniosynostosis with variable phenotypic expression characterized by craniosynostosis, intellectual disability, distinctive facies, abnormalities of the fingers and toes (brachydactyly, polydactyly and syndactyly), short stature, congenital heart disease, skeletal defects, obesity, genital abnormalities and umbilical hernia.
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ORPHAcode: |
65759
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Synonyms: |
ACPS2
Acrocephalopolysyndactyly type 2
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XREF(s): | |
Analyte(s): | |
Created: |
13 May 2019 - 01:02
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Changed: |
22 Jun 2023 - 16:14
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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% -
Early-onset severe obesity (44 genes) - ULG
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments ADCY3 100.00 0 only for coding exons and intronic borders +/-14pb ALMS1 100.00 0 only for coding exons and intronic borders +/-14pb BBS1 100.00 0 only for coding exons and intronic borders +/-14pb BBS2 100.00 0 only for coding exons and intronic borders +/-14pb ARL6 100.00 0 only for coding exons and intronic borders +/-14pb BBS4 100.00 0 only for coding exons and intronic borders +/-14pb BBS5 100.00 0 only for coding exons and intronic borders +/-14pb MKKS 100.00 0 only for coding exons and intronic borders +/-14pb BBS7 100.00 0 only for coding exons and intronic borders +/-14pb TTC8 100.00 0 only for coding exons and intronic borders +/-14pb BBS9 99.99 0 only for coding exons and intronic borders +/-14pb BBS10 100.00 0 only for coding exons and intronic borders +/-14pb TRIM32 100.00 0 only for coding exons and intronic borders +/-14pb BBS12 100.00 0 only for coding exons and intronic borders +/-14pb MKS1 100.00 0 only for coding exons and intronic borders +/-14pb CEP290 99.99 0 only for coding exons and intronic borders +/-14pb WDPCP 100.00 0 only for coding exons and intronic borders +/-14pb SDCCAG8 100.00 0 only for coding exons and intronic borders +/-14pb LZTFL1 100.00 0 only for coding exons and intronic borders +/-14pb BBIP1 100.00 0 only for coding exons and intronic borders +/-14pb IFT27 100.00 0 only for coding exons and intronic borders +/-14pb BDNF 100.00 0 only for coding exons and intronic borders +/-14pb CREBBP 99.99 0 only for coding exons and intronic borders +/-14pb EP300 99.99 0 only for coding exons and intronic borders +/-14pb GNAS 99.34 0 only for coding exons and intronic borders +/-14pb INPP5E 97.02 0 only for coding exons and intronic borders +/-14pb LEP 100.00 1 only for coding exons and intronic borders +/-14pb LEPR 99.99 1 only for coding exons and intronic borders +/-14pb MAGEL2 99.54 0 only for coding exons and intronic borders +/-14pb MC3R 100.00 1 only for coding exons and intronic borders +/-14pb MC4R 100.00 1 only for coding exons and intronic borders +/-14pb MYT1L 100.00 0 only for coding exons and intronic borders +/-14pb NTRK2 100.00 0 only for coding exons and intronic borders +/-14pb PCSK1 99.99 0 only for coding exons and intronic borders +/-14pb PHF6 99.98 0 only for coding exons and intronic borders +/-14pb POMC 99.97 1 only for coding exons and intronic borders +/-14pb RAB23 100.00 0 only for coding exons and intronic borders +/-14pb SETD2 100.00 0 only for coding exons and intronic borders +/-14pb SH2B1 100.00 1 only for coding exons and intronic borders +/-14pb SIM1 100.00 1 only for coding exons and intronic borders +/-14pb TBX3 98.58 0 only for coding exons and intronic borders +/-14pb TUB 100.00 0 only for coding exons and intronic borders +/-14pb DYRK1B 99.94 0 only for coding exons and intronic borders +/-14pb MRAP2 100.00 0 only for coding exons and intronic borders +/-14pb