Klinische FragestellungPädiatrische Tumor-Prädisposition, hereditär

NGS +

• PS: Nicht eingeschlossen sind Gene, die mit Krebsleiden des Erwachsenen assoziiert sind
• Alias: Colorectal adenomatous polyposis
• Alias: Familial polyposis coli, FAP
• Alias: Gardner syndrome
• Alias: Neoplasie, endokrine multiple, MEN
• Allelic: Acrodysostosis 1, with/-out hormone resistance (PRKAR1A)
• Allelic: Baller-Gerold syndrome (RECQL4)
• Allelic: Basal ganglia calcification, idiopathic, 4 (PDGFRB)
• Allelic: Bohring-Opitz syndrome (ASXL1)
• Allelic: Cardiomyopathy, dilated, 1GG (SDHA)
• Allelic: Cardiomyopathy, dilated, 1NN (RAF1)
• Allelic: Central hypoventilation syndrome, congenital (RET)
• Allelic: Central hypoventilation syndrome, congenital, with/_out Hirschsprung disease (PHOX2B)
• Allelic: Cerebroretinal microangiopathy with calcifications + cysts (CTC1)
• Allelic: Chorea, hereditary benign (NKX2-1)
• Allelic: Choreoathetosis, hypothyroidism, neonatal respiratory distress (NKX2-1)
• Allelic: Coats plus syndrome (CTC1)
• Allelic: Coffin-Siris syndrome 3 (SMARCB1)
• Allelic: Coffin-Siris syndrome 4 (SMARCA4)
• Allelic: Coffin-Siris syndrome 5 (SMARCE1)
• Allelic: Colorectal cancer, somatic (EP300)
• Allelic: Congenital myopathy with excess of muscle spindles (HRAS)
• Allelic: Costello syndrome (HRAS)
• Allelic: Deafness, AD 27 (REST)
• Allelic: Diarrhea 5, with tufting enteropathy, congenital (EPCAM)
• Allelic: Dysautonomia, familial (ELP1)
• Allelic: Emberger syndrome (GATA2)
• Allelic: Focal cortical dysplasia, type II, somatic (TSC1)
• Allelic: Focal cortical dysplasia, type II, somatic (TSC2)
• Allelic: Fumarase deficiency (FH)
• Allelic: Gastric cancer, somatic (MUTYH)
• Allelic: Hirschsprung disease, protection against (RET)
• Allelic: Hirschsprung disease, susceptibility to, 1 (RET)
• Allelic: Holoprosencephaly 7 (PTCH1)
• Allelic: Hyperparathyroidism, familial primary (CDC73)
• Allelic: IMAGE syndrome (CDKN1C)
• Allelic: Immunodeficiency 21 (GATA2)
• Allelic: Insensitivity to pain, congenital, with anhidrosis (NTRK1)
• Allelic: Joubert syndrome 32 (SUFU)
• Allelic: Keipert syndrome (GPC4)
• Allelic: Kosaki overgrowth syndrome (PDGFRB)
• Allelic: Macrocephaly/autism syndrome (PTEN)
• Allelic: Mental retardation, AD 29 (SETBP1)
• Allelic: Mitochondrial complex II deficiency, nuclear type 1 (SDHA)
• Allelic: Mitochondrial complex II deficiency, nuclear type 3 (SDHD)
• Allelic: Mitochondrial complex II deficiency, nuclear type 4 (SDHB)
• Allelic: Myhre syndrome (SMAD4)
• Allelic: Nephrotic syndrome, type 4 (WT1)
• Allelic: Neurodegeneration with ataxia + late-onset optic atrophy (SDHA)
• Allelic: Oocyte maturation defect 9 (TRIP13)
• Allelic: Premature aging syndrome, Penttinen type (PDGFRB)
• Allelic: Pulmonary fibrosis and/or bone marrow failure, telomere-related, 4 (PARN)
• Allelic: RAPADILINO syndrome (RECQL4)
• Allelic: Thrombocytopenia 5 (ETV6)
• Allelic: Tumoral calcinosis, familial, normophosphatemic (SAMD9)
• APC-related attenuated familial adenomatous polyposis (APC)
• Adenocarcinoma of lung, somatic (BRAF)
• Adenoma, periampullary, somatic (APC)
• Adenomas, multiple colorectal (MUTYH)
• Adenomatous polyposis coli (APC)
• Adrenal adenoma, somatic (MEN1)
• Adrenocortical carcinoma, pediatric (TP53)
• Adrenocortical tumor, somatic (PRKAR1A)
• Angiofibroma, somatic (MEN1)
• Aplastic anemia (NBN)
• Ataxia-pancytopenia syndrome (SAMD9L)
• Ataxia-telangiectasia (ATM)
• Basal cell carcinoma 7 (TP53)
• Basal cell carcinoma, somatic (PTCH1)
• Basal cell nevus syndrome (PTCH1)
• Basal cell nevus syndrome (SUFU)
• Beckwith-Wiedemann syndrome (CDKN1C)
• Bladder cancer, somatic (KRAS)
• Bladder cancer, somatic (RB1)
• Bloom syndrome (BLM)
• Bone marrow failure syndrome 5 (TP53)
• Brain tumor-polyposis syndrome 2 (APC)
• Breast cancer, early-onset, susceptibility to (BRIP1)
• Breast cancer, male, susceptibility to (BRCA2)
• Breast cancer, somatic (KRAS)
• Breast cancer, somatic (TP53)
• Breast cancer, susceptibility to (ATM)
• Breast cancer, susceptibility to (PALB2)
• Breast-ovarian cancer, familial, 1 (BRCA1)
• Breast-ovarian cancer, familial, 2 (BRCA2)
• Breast-ovarian cancer, familial, susceptibility to, 3 (RAD51C)
• Carcinoid tumor of lung (MEN1)
• Cardiofaciocutaneous syndrome (BRAF)
• Cardiofaciocutaneous syndrome 2 (KRAS)
• Cardiofaciocutaneous syndrome 3 (MAP2K1)
• Cardiofaciocutaneous syndrome 4 (MAP2K2)
• Carney complex, type 1 (PRKAR1A)
• Cerebrooculofacioskeletal syndrome 2 (ERCC2)
• Cerebrooculofacioskeletal syndrome 3 (ERCC5)
• Cerebrooculofacioskeletal syndrome 4 (ERCC1)
• Cerebroretinal microangiopathy with calcifications and cysts (CTC1)
• Choroid plexus papilloma (TP53)
• Colorectal cancer (TP53)
• Colorectal cancer, hereditary nonpolyposis, type 1 (MSH1)
• Colorectal cancer, hereditary nonpolyposis, type 2 (MLH1)
• Colorectal cancer, hereditary nonpolyposis, type 4 (PMS2)
• Colorectal cancer, hereditary nonpolyposis, type 5 (MSH6)
• Colorectal cancer, hereditary nonpolyposis, type 8 (EPCAM)
• Colorectal cancer, somatic (APC)
• Colorectal cancer, somatic (BRAF)
• Colorectal cancer, somatic (BUB1B)
• Cowden syndrome 1 (PTEN)
• Denys-Drash syndrome (WT1)
• Desmoid disease, hereditary (APC)
• Diamond-Blackfan anemia 1 (RPS19)
• Diamond-Blackfan anemia 10 (RPS26)
• Diamond-Blackfan anemia 3 (RPS24)
• Diamond-Blackfan anemia 4 (RPS17)
• Diamond-Blackfan anemia 5 (RPL35A)
• Diamond-Blackfan anemia 6 (RPL5)
• Diamond-Blackfan anemia 7 (RPL11)
• Diamond-Blackfan anemia 8 (RPS7)
• Diamond-Blackfan anemia 9 (RPS10)
• Dyskeratosis congenita (INVS)
• Dyskeratosis congenita, AD 2 (TERT)
• Dyskeratosis congenita, AD 3 (TINF2)
• Dyskeratosis congenita, AD 6 (ACD)
• Dyskeratosis congenita, AR (CTC1)
• Dyskeratosis congenita, AR 1 (NOP10)
• Dyskeratosis congenita, AR 2 (NHP2)
• Dyskeratosis congenita, AR 3 (WRAP53)
• Dyskeratosis congenita, AR 4 (RTEL1)
• Dyskeratosis congenita, AR 4 (TERT)
• Dyskeratosis congenita, AR 5 (RTEL1)
• Dyskeratosis congenita, AR 6 (PARN)
• Dyskeratosis congenita, AR 7 (ACD)
• Dyskeratosis congenita, XL (DKC1)
• Dyskeratosis congenita, autosomal dominant 4 (RTEL1)
• Dyskeratosis congenita, autosomal recessive 5 (RTEL1)
• Endometrial cancer, familial (MSH6)
• Erythrocytosis, familial, 2 (VHL)
• Erythrocytosis, somatic (SH2B3)
• Faciocutaneoskeletal syndrome (HRAS)
• Familial Wilms tumor (TRIM28)
• Familial Wilms tumor [panelapp] (TRIM28)
• Fanconi anemia, complementation group A (FANCA)
• Fanconi anemia, complementation group B (FANCB)
• Fanconi anemia, complementation group C (FANCC)
• Fanconi anemia, complementation group D1 (BRCA2)
• Fanconi anemia, complementation group D2 (FANCD2)
• Fanconi anemia, complementation group E (FANCE)
• Fanconi anemia, complementation group F (FANCF)
• Fanconi anemia, complementation group G (FANCG)
• Fanconi anemia, complementation group I (FANCI)
• Fanconi anemia, complementation group J (BRIP1)
• Fanconi anemia, complementation group L (FANCL)
• Fanconi anemia, complementation group N (PALB2)
• Fanconi anemia, complementation group O (RAD51C)
• Fanconi anemia, complementation group P (SLX4)
• Fanconi anemia, complementation group Q (ERCC4)
• Fanconi anemia, complementation group S (BRCA1)
• Fanconi anemia, complementation group T (UBE2T)
• Fanconi anemia, complementation group U (XRCC2)
• Fanconi anemia, complementation group V (MAD2L2)
• Fibromatosis, gingival, 1 (SOS1)
• Fibromatosis, gingival, 5 (REST)
• Frasier syndrome (WT1)
• GLOW syndrome, somatic mosaic (DICER1)
• Gastric adenocarcinoma + proximal polyposis of the stomach (APC)
• Gastric cancer, somatic (APC, KRAS)
• Gastrointestinal stromal tumor (SDHB, SDHC)
• Gastrointestinal stromal tumor/GIST-plus syndrome, somatic or familial (PDGFRA)
• Glioblastoma 3 (BRCA2)
• Glioma susceptibility 1 (TP53)
• Glioma susceptibility 2 (PTEN)
• Goiter, multinodular 1, with/-out Sertoli-Leydig cell tumors (DICER1)
• Hemangioblastoma, cerebellar, somatic (VHL)
• Hepatoblastoma, somatic (APC)
• Hepatocellular carcinoma, somatic (TP53)
• Hypereosinophilic syndrome, idiopathic, resistant to imatinib (PDGFRA)
• Hyperparathyroidism-jaw tumor syndrome (CDC73)
• Juvenile myelomonocytic leukemia (CBL)
• Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome (SMAD4)
• L-2-hydroxyglutaric aciduria (L2HGDH)
• LEOPARD syndrome 1 (PTPN11)
• LEOPARD syndrome 2 (RAF1)
• LEOPARD syndrome 3 (BRAF)
• Leiomyomatosis + renal cell cancer (FH)
• Leukemia, acute lymphoblastic (NBN)
• Leukemia, acute lymphoblastic, susceptibility to (PAX5)
• Leukemia, acute myeloid (CEBPA, RUNX1, TERT)
• Leukemia, acute myeloid, somatic (CEBPA, ETV6, KRAS)
• Leukemia, acute myeloid, susceptibility to (GATA2)
• Leukemia, juvenile myelomonocytic (NF1)
• Leukemia, juvenile myelomonocytic, somatic (PTPN11)
• Lhermitte-Duclos syndrome (PTEN)
• Li-Fraumeni syndrome (TP53)
• Lipoma, somatic (MEN1)
• Lung cancer, somatic (KRAS)
• Lymphangioleiomyomatosis (TSC1)
• Lymphangioleiomyomatosis, somatic (TSC2)
• Lymphoma, B-cell non-Hodgkin, somatic (ATM)
• Lymphoma, mantle cell, somatic (ATM)
• MIRAGE syndrome (SAMD9)
• Meacham syndrome (WT1)
• Medullary thyroid carcinoma (RET)
• Medulloblastoma (BRCA2)
• Medulloblastoma, desmoplastic (SUFU)
• Melanoma, cutaneous malignant, 9 (TERT)
• Melanoma, malignant, somatic (BRAF)
• Melanoma, malignant, somatic (STK11)
• Melorheostosis, isolated, somatic mosaic (MAP2K1)
• Meningioma (PTEN)
• Meningioma, NF2-related, somatic (NF2)
• Meningioma, familial, susceptibility to (SMARCE1)
• Meningioma, familial, susceptibility to (SUFU)
• Menke-Hennekam syndrome 1 (CREBBP)
• Menke-Hennekam syndrome 2 (EP300)
• Mesothelioma, somatic (WT1)
• Metachondromatosis (PTPN11)
• Mismatch repair cancer syndrome 1 (MLH1)
• Mismatch repair cancer syndrome 2 (MSH2)
• Mismatch repair cancer syndrome 3 (MSH6)
• Mismatch repair cancer syndrome 4 (PMS2)
• Monosomy 7 myelodysplasia + leukemia syndrome 1 (SAMD9L)
• Monosomy 7 myelodysplasia + leukemia syndrome 2 (SAMD9)
• Mosaic variegated aneuploidy syndrome 1 (BUB1B)
• Mosaic variegated aneuploidy syndrome 3 (TRIP13)
• Muir-Torre syndrome (MLH1, MSH2)
• Mulibrey nanism (TRIM37)
• Multiple endocrine neoplasia 1, Wermer syndrome (MEN1)
• Multiple endocrine neoplasia IIA (RET)
• Multiple endocrine neoplasia IIB (RET)
• Multiple endocrine neoplasia, type IV (CDKN1B)
• Myelodysplastic syndrome, somatic (ASXL1)
• Myelodysplastic syndrome, susceptibility to (GATA2)
• Myelofibrosis, somatic (SH2B3)
• Myeloproliferative disorder with eosinophilia (PDGFRB)
• Myofibromatosis, infantile, 1 (PDGFRB)
• Myxoma, intracardiac (PRKAR1A)
• Nasopharyngeal carcinoma, somatic (TP53)
• Neuroblastoma with Hirschsprung disease (PHOX2B)
• Neuroblastoma, susceptibility to, 2 (PHOX2B)
• Neuroblastoma, susceptibility to, 3 (ALK)
• Neurofibromatosis, familial spinal (NF1)
• Neurofibromatosis, type 1 (NF1)
• Neurofibromatosis, type 2 (NF2)
• Neurofibromatosis-Noonan syndrome (NF1)
• Nevus sebaceous or woolly hair nevus, somatic (HRAS)
• Nijmegen breakage syndrome (NBN)
• Nonsmall cell lung cancer, somatic (BRAF)
• Noonan syndrome 1 (PTPN11)
• Noonan syndrome 10 (LZTR1)
• Noonan syndrome 2 (LZTR1)
• Noonan syndrome 3 (KRAS)
• Noonan syndrome 4 (SOS1)
• Noonan syndrome 5 (RAF1)
• Noonan syndrome 7 (BRAF)
• Noonan syndrome 8 (RIT1)
• Noonan syndrome 9 (SOS2)
• Noonan syndrome-like disorder with loose anagen hair 2 (PPP1CB)
• Noonan syndrome-like disorder with/-out juvenile myelomonocytic leukemia (CBL)
• Noonan syndrome-like with loose anagen hair 1 (SHOC2)
• Oculoectodermal syndrome, somatic (KRAS)
• Osteosarcoma (TP53)
• Osteosarcoma, somatic (RB1)
• Pancreatic cancer 2 (BRCA2)
• Pancreatic cancer, somatic (SMAD4)
• Pancreatic cancer, somatic (STK11)
• Pancreatic cancer, somatic (TP53)
• Pancreatic cancer, susceptibility to, 3 (PALB2)
• Pancreatic cancer, susceptibility to, 4 (BRCA1)
• Pancreatic carcinoma, somatic (KRAS)
• Paraganglioma + gastric stromal sarcoma (SDHB, SDHC, SDHD)
• Paragangliomas 1, with/-out deafness (SDHD)
• Paragangliomas 2 (SDHAF2)
• Paragangliomas 3 (SDHC)
• Paragangliomas 4 (SDHB)
• Paragangliomas 5 (SDHA)
• Parathyroid adenoma with cystic changes (CDC73)
• Parathyroid adenoma, somatic (MEN1)
• Parathyroid carcinoma (CDC73)
• Perlman syndrome (DIS3L2)
• Peutz-Jeghers syndrome (STK11)
• Pheochromocytoma (RET, SDHB, SDHD, VHL)
• Pheochromocytoma, susceptibility to (MAX, TMEM127)
• Pigmented nodular adrenocortical disease, primary, 1 (PRKAR1A)
• Platelet disorder, familial, with associated myeloid malignancy (RUNX1)
• Pleuropulmonary blastoma (DICER1)
• Polyposis syndrome, hereditary mixed, 2 (BMPR1A)
• Polyposis, juvenile intestinal (BMPR1A)
• Polyposis, juvenile intestinal (SMAD4)
• Premature aging syndrome, Penttinen type (PDGFRB)
• Premature chromatid separation trait (BUB1B)
• Prostate cancer (BRCA2)
• Prostate cancer, somatic (PTEN)
• Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1 (TERT)
• Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3 (RTEL1)
• Pulmonary fibrosis and/or bone marrow failure, telomere-related, 4 (PARN)
• RAS-associated autoimmune leukoproliferative disorder (KRAS)
• Renal cell carcinoma, somatic (VHL)
• Retinoblastoma (RB1)
• Retinoblastoma, trilateral (RB1)
• Revesz syndrome (TINF2)
• Rhabdoid tumor predisposition syndrome 1 (SMARCB1)
• Rhabdoid tumor predisposition syndrome 2 (SMARCA4)
• Rhabdoid tumors, somatic (SMARCB1)
• Rhabdomyosarcoma, embryonal, 2 (DICER1)
• Rothmund-Thomson syndrome, type 2 (RECQL4)
• Rubinstein-Taybi syndrome 1 (CREBBP)
• Rubinstein-Taybi syndrome 2 (EP300)
• Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic (HRAS, KRAS)
• Schinzel-Giedion midface retraction syndrome (SETBP1)
• Schwannomatosis, somatic (NF2)
• Schwannomatosis-1, susceptibility to (SMARCB1)
• Schwannomatosis-2, susceptibility to (LZTR1)
• Simpson-Golabi-Behmel syndrome, type 1 (GPC3)
• Small cell cancer of the lung, somatic (RB1)
• Sotos syndrome 1 (NSD1)
• Spitz nevus/nevus spilus, somatic (HRAS)
• Susceptibility to ALL (SH2B3)
• T-cell prolymphocytic leukemia, somatic (ATM)
• Testicular tumor, somatic (STK11)
• Thrombocythemia, somatic (SH2B3)
• Thyroid cancer, nonmedullary, 1 (NKX2-1)
• Thyroid carcinoma, follicular, somatic (HRAS, NRAS)
• Trichothiodystrophy 1, photosensitive (ERCC2)
• Trichothiodystrophy 2, photosensitive (ERCC3)
• Tuberous sclerosis-1 (TSC1)
• Tuberous sclerosis-2 (TSC2)
• Tumor predisposition syndrome (BAP1)
• Tyrosinemia, type I (FAH)
• Watson syndrome (NF1)
• Weaver syndrome (EZH2)
• Werner syndrome (WRN)
• Wilms tumor (BRCA2)
• Wilms tumor 6, susceptibility to (REST)
• Wilms tumor, familial (TRIM28)
• Wilms tumor, somatic (GPC3)
• Wilms tumor, type (WT1)
• Wilms tumour [panelapp] (NYNRIN)
• XFE progeroid syndrome (ERCC4)
• Xeroderma pigmentosum, group A (XPA)
• Xeroderma pigmentosum, group B (ERCC3)
• Xeroderma pigmentosum, group C (XPC)
• Xeroderma pigmentosum, group D (ERCC2)
• Xeroderma pigmentosum, group E, DDB-negative subtype (DDB2)
• Xeroderma pigmentosum, group F (ERCC4)
• Xeroderma pigmentosum, group F/Cockayne syndrome (ERCC4)
• Xeroderma pigmentosum, group G (ERCC5)
• Xeroderma pigmentosum, group G/Cockayne syndrome (ERCC5)
• Xeroderma pigmentosum, variant type (POLH)
• [Familial Wilms tumor; panelapp] (CTR9)
• von Hippel-Lindau syndrome (VHL)