Klinische FragestellungHamartomas [extra-gastrointestinal], Differentialdiagnose

NGS +

• Allelic: GLOW syndrome, somatic mosaic (DICER1)
• Allelic: Glioma susceptibility 2 (PTEN)
• Allelic: Goiter, multinodular 1, with/-out Sertoli-Leydig cell tumors (DICER1)
• Allelic: Greig cephalopolysyndactyly syndrome (GLI3)
• Allelic: Holoprosencephaly 7 (PTCH1)
• Allelic: Leukemia, juvenile myelomonocytic (NF1)
• Allelic: Medulloblastoma, desmoplastic (SUFU)
• Allelic: Meningioma (PTEN)
• Allelic: Meningioma, familial, susceptibility to (SUFU)
• Allelic: Myhre syndrome (SMAD4)
• Allelic: Neurofibromatosis, familial spinal (NF1)
• Allelic: Neurofibromatosis-Noonan syndrome (NF1)
• Allelic: Pleuropulmonary blastoma (DICER1)
• Allelic: Pneumothorax, primary spontaneous (FLCN)
• Allelic: Polydactyly, postaxial, types A1 + B (GLI3)
• Allelic: Polydactyly, preaxial, type IV (GLI3)
• Allelic: Watson syndrome (NF1)
• Bardet-Biedl syndrome 1 (BBS1)
• Bardet-Biedl syndrome 10 (BBS10)
• Bardet-Biedl syndrome 11 (TRIM32)
• Bardet-Biedl syndrome 12 (BBS12)
• Bardet-Biedl syndrome 13 (MKS1)
• Bardet-Biedl syndrome 14 (CEP290)
• Bardet-Biedl syndrome 15 (WDPCP)
• Bardet-Biedl syndrome 16 (SDCCAG8)
• Bardet-Biedl syndrome 17 (LZTFL1)
• Bardet-Biedl syndrome 18 (BBIP1)
• Bardet-Biedl syndrome 19 (IFT27)
• Bardet-Biedl syndrome 2 (BBS2)
• Bardet-Biedl syndrome 3 (ARL6)
• Bardet-Biedl syndrome 4 (BBS4)
• Bardet-Biedl syndrome 5 (BBS5)
• Bardet-Biedl syndrome 6 (MKKS)
• Bardet-Biedl syndrome 7 (BBS7)
• Bardet-Biedl syndrome 8 (TTC8)
• Bardet-Biedl syndrome 9 (BBS9)
• Basal cell nevus syndrome (PTCH1)
• Basal cell nevus syndrome (PTCH2)
• Basal cell nevus syndrome (SUFU)
• Birt-Hogg-Dube syndrome (FLCN)
• Cowden syndrome 1 (PTEN)
• Cowden syndrome 6 (AKT1)
• Joubert syndrome 10 (OFD1)
• Joubert syndrome 12 (KIF7)
• Joubert syndrome 17 (C5orf42 syn. CPLANE1)
• Joubert syndrome 18 (TCTN3)
• Joubert syndrome 2 (TMEM216)
• Joubert syndrome 24 (TCTN2)
• Joubert syndrome 29 (TMEM107)
• Joubert syndrome 31 (CEP120)
• Joubert syndrome 32 (SUFU)
• Joubert syndrome 34 (B9D2)
• Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome (SMAD4)
• Lhermitte-Duclos disease (PTEN)
• Luscan-Lumish syndrome (SETD2)
• Macrocephaly/autism syndrome (PTEN)
• Neurofibromatosis, type 1 (NF1)
• Neurofibromatosis, type 2 (NF2)
• Orofaciodigital syndrome XIV (C2CD3)
• Pallister-Hall syndrome (GLI3)
• Peutz-Jeghers syndrome (STK11)
• Polyposis syndrome, hereditary mixed, 2 (BMPR1A)
• Polyposis, juvenile intestinal (BMPR1A)
• Polyposis, juvenile intestinal (SMAD4)
• Rhabdomyosarcoma, embryonal, 2 (DICER1)