KRANIOSYNOSTOZY i HIPOCHONDROPLAZJA
FGFR1, FGFR2, FGFR3, TWIST1, GLI3, ALPL, IFT122 (7 genów)
FGFR1, FGFR2, FGFR3, TWIST1, GLI3, ALPL, IFT122 (7 genów)
PTPN11, SOS1, RAF1, KRAS, BRAF, MAP2K1, MAP2K2, HRAS, SHOC2, CBL (10 genów)
BBS1, BBS2, ARL6, BBS4, BBS5, MKKS, BBS7, TTC8, BBS9, BBS10, TRIM32, BBS12, MKS1, CEP290, C2ORF86, SDCCAG8, LZTFL1, BBIP1, IFT27, IFT74, C8ORF37, TMEM67 (22 geny)
WFS1, CISD2 (2 geny)
ALMS1 (1 gen)
GLUD1, HADH, INS, GCK, KCNJ11, SLC16A1, ABCC8 (7 genów)
GCK, KCNJ11, ABCC8, INS, FOXP3, GLIS3, HNF1B, PDX1, PTF1a,EIF2AK3, (10 genów)
HNF4A, GCK, HNF1A, PDX1, HNF1B, NEUROD1, KLF11, CEL, PAX4, INS, BLK, KCNJ11, APPL1, ABCC8 (14 genów)
ABCC8, AIRE, BLK, CEL, EIF2AK3, FOXP3, GATA4, GATA6, GCK, GCKR, GLIS3, GLUD1, HADH, HNF1A, HNF1B, HNF4A, INS, ISL1, KCNJ11, KLF11, MAFA, MAFB, MNX1, NEUROD1, NEUROG3,…
ABCG5, ABCG8, APOB, APOE, LDLR, LPL, PCSK9 (7 genów)
FGFR1, FGFR2, FGFR3, TWIST1, GLI3, ALPL, IFT122 (7 genów)
PTPN11, SOS1, RAF1, KRAS, BRAF, MAP2K1, MAP2K2, HRAS, SHOC2, CBL (10 genów)
BBS1, BBS2, ARL6, BBS4, BBS5, MKKS, BBS7, TTC8, BBS9, BBS10, TRIM32, BBS12, MKS1, CEP290, C2ORF86, SDCCAG8, LZTFL1, BBIP1, IFT27, IFT74, C8ORF37, TMEM67 (22 geny)
WFS1, CISD2 (2 geny)
ALMS1 (1 gen)
GLUD1, HADH, INS, GCK, KCNJ11, SLC16A1, ABCC8 (7 genów)
GCK, KCNJ11, ABCC8, INS, FOXP3, GLIS3, HNF1B, PDX1, PTF1a,EIF2AK3, (10 genów)
HNF4A, GCK, HNF1A, PDX1, HNF1B, NEUROD1, KLF11, CEL, PAX4, INS, BLK, KCNJ11, APPL1, ABCC8 (14 genów)
ABCC8, AIRE, BLK, CEL, EIF2AK3, FOXP3, GATA4, GATA6, GCK, GCKR, GLIS3, GLUD1, HADH, HNF1A, HNF1B, HNF4A, INS, ISL1, KCNJ11, KLF11, MAFA, MAFB, MNX1, NEUROD1, NEUROG3,…
ABCG5, ABCG8, APOB, APOE, LDLR, LPL, PCSK9 (7 genów)