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Notes
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| Hereditary papillary renal carcinoma (MET)
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Disease
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| Multiple endocrine neoplasia type 2 (RET)
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Disease
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| Juvenile polyposis syndrome (BMPR1A, SMAD4)
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Disease
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| Hereditary neuroblastoma (ALK, PHOX2B)
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Disease
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| Encephalocraniocutaneous lipomatosis (FGFR1)
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Disease
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| Glucagon cell hyperplasia and neoplasia (GCGR)
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Disease
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| McCune-Albright syndrome (GNAS)
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Disease
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| Sturge-Weber syndrome (GNAQ)
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Disease
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| Neurofibromatosis type 1 (NF1)
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Disease
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| NF2-related schwannomatosis (NF2)
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Disease
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| Costello syndrome (HRAS)
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Disease
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| Noonan syndrome (Various genes)
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Disease
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| Schimmelpenning-Feuerstein-Mims (HRAS, KRAS)
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Disease
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| Carney complex (PRKAR1A, PDE8B, PDE11A)
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Disease
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| PROS syndrome (PIK3CA)
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Disease
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| Familial adenomatous polyposis (APC)
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Disease
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| Gastric Adenocarcinoma and Proximal Polyposis of Stomach - GAPPS (APC promoter)
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Disease
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| AXIN2-associated polyposis (AXIN2)
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Disease
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| Serrated polyposis (RNF43)
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Disease
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| WT1 related tumour predisposition syndrome (WT1)
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Disease
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| WAGR syndrome (WT1)
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Disease
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| Multiple endocrine neoplasia type 1 (MEN1)
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Disease
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| Peutz-Jeghers syndrome (STK11)
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Disease
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| Hereditary gastric and breast cancer syndrome (CDH1, CTNNA1)
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Disease
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| Hereditary mixed polyposis syndrome (GREM1)
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Disease
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| Naevoid basal cell carcinoma syndrome - Gorlin syndrome (PTCH1, SUFU, GPR161)
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Disease
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| SMO-related Curry-Jones syndrome (SMO)
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Disease
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| ELP1-related medulloblastoma predisposition syndrome(ELP1)
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Disease
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| Osteochondromatosis (EXT1, EXT2)
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Disease
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| Brooke-Spiegler syndrome (CYLD)
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Disease
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| Tuberous sclerosis (TSC1, TSC1)
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Disease
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| PTEN hamartoma tumour syndrome (PTEN)
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Disease
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| Activated Phosphatidylinositol-3-OH kinase δ Syndrome - APDS (PIK3CD)
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Disease
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| Multiple endocrine neoplasia type 5, MAX related tumours (MAX)
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Disease
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| MAFA-related familial insulinomatosis (MAFA)
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Disease
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| Birt-Hogg-Dube syndrome (FLCN)
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Disease
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| Familial chordoma (TBXT)
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Disease
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| Hyperparathyroidism jaw tumour syndrome (CDC73)
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Disease
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| Von Hippel-Lindau syndrome (VHL)
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Disease
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| SDH-deficient tumour syndrome - Hereditary phaeochromocytoma-paraganglioma syndromes (SDHA, SDHB, SDHC, SDHD, SDHAF2)
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Disease
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| Hereditary leiomyomatosis and renal cell carcinoma syndrome (FH)
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Disease
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| Hereditary tyrosinaemia type 1 (FAH)
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Disease
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| Li-Fraumeni syndrome (TP53)
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Disease
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| Retinoblastoma syndrome (RB1)
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Disease
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| Multiple endocrine neoplasia type 4 (CDKN1B)
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Disease
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| CDKN2A-related tumour predisposition syndrome (CDKN2A)
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Disease
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| CDK4-related melanoma predisposition syndrome (CDK4)
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Disease
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| Autoimmune lymphoproliferative syndrome (FAS)
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Disease
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| Lynch Syndrome (MLH1, PMS2, MSH2, MSH6)
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Disease
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| Muir-Torre syndrome (MLH1, PMS2, MSH2, MSH6)
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Disease
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| Constitutional mismatch repair deficiency (CMMRD) syndrome (MLH1, PMS2, MSH2, MSH6)
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Disease
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| BRCA-related cancer predisposition syndrome (BRCA1, BRCA2)
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Disease
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| PALB2-related cancer predisposition syndrome (PALB2)
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Disease
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| RAD51-related cancer predisposition syndrome (RAD51C, RAD51D)
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Disease
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| Fanconi anaemia (FANC genes)
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Disease
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| MUTYH-associated polyposis (MUTYH)
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Disease
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| NTHL1-related tumour syndrome (NTHL1)
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Disease
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| MBD4-associated neoplasia syndrome (MBD4)
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Disease
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| Xeroderma Pigmentosum
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Disease
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| Ataxia-telangiectasia syndrome (ATM)
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Disease
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| CHEK2-related hereditary (breast) cancer predisposition syndrome (CHEK2)
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Disease
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| Nijmegen breakage syndrome (NBN)
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Disease
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| Polymerase proofreading-associated polyposis (POLD1, POLE)
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Disease
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| Bloom syndrome (BLM)
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Disease
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| Werner syndrome (WRN)
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Disease
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| Rothmund-Thomson syndrome (ANAPC1, RECQL4)
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Disease
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| DDX41-related haematologic tumour predisposition syndrome (DDX41)
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Disease
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| Mosaic variegated aneuploidy (BUB1B, CEP57, TRIP13, BUB1, BUB3)
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Disease
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| Klinefelter syndrome
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Disease
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| Turner syndrome
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Disease
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| Down syndrome
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Disease
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| Dyskeratosis congenita (DKC1, TERT, TERC, TINF2, Other IBMFS genes)
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Disease
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| POT1 and Shelterin-related tumour predisposition syndrome (POT1, ACD, TERF2IP, TERT promoter)
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Disease
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| Beckwith-Wiedemann spectrum (IGF2; CDKN1C)
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Disease
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| Enchondromatosis (IDH1, IDH2)
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Disease
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| Rhabdoid tumour predisposition syndrome (SMARCB1, SMARCA4)
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Disease
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| Schwannomatosis (SMARCB1, LZTR1)
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Disease
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| Clear cell meningioma predisposition syndrome (SMARCE1)
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Disease
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| Weaver syndrome (EZH2)
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Disease
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| DICER1-related tumour predisposition syndrome (DICER1)
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Disease
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| MicroRNA processor tumour predisposition syndromes (DROSHA, DGCR8)
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Disease
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| Goldenhar syndrome (MYT1, SF3B2)
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Disease
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| BAP1-related tumour predisposition syndrome (BAP1)
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Disease
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