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GenetischePanel-Diagnostik

ErkrankungPädiatrische Tumor-Prädisposition

Zusammenfassung

Kurzinformation

Ein kuratiertes panel mit 128 Genen zur umfassenden Untersuchung von praktisch allen bekannten genetisch bedingten Tumorentitäten des Kindesalters

ID
TP5858
Anzahl Gene
128
Untersuchte Sequenzlänge
0,0 kb (Core-/Basis-Gene)
311,1 kb (Erweitertes Panel)
Analyse-Dauer
auf Anfrage
Material
  • EDTA-Blut (3-5 ml)
Diagnostische Hinweise

NGS +

 

Genpanel

Ausgewählte Gene

NameExon-Länge (bp)OMIM-GErbgang
ALK4863AD und/oder Gen Fusion
APC8532AD und/oder Sus
ASXL14626AD und/oder SMu
ATM9171AD und/oder AR und/oder SMu und/oder Sus
BLM4254AR und/oder Sus
BMPR1A1599AD und/oder Sus
BRAF2301AD und/oder SMu und/oder Sus
BRCA15592AD und/oder AR und/oder SMu und/oder Sus
BRCA210257AD und/oder AR und/oder SMu und/oder Sus
BRIP13750AD und/oder Sus
BUB1B3153AD und/oder AR und/oder Sus
CBL2721AD und/oder SMu
CDC731596AD und/oder Sus
CDKN1B597AD und/oder Sus
CDKN1C951AD und/oder Sus
CEBPA1077AD und/oder SMu
CREBBP7329AD und/oder SMu und/oder Meth
DDB21284AR
DICER15769AD und/oder Sus
DIS3L22658AR und/oder Sus
DKC11545XLR
ELP13999AR
EP3007245AD und/oder SMu und/oder Meth
EPCAM945AR und/oder SMu und/oder Sus
ERCC1972AR
ERCC22283AR
ERCC32349AR
ERCC42751AR
ERCC53561AR
ETV61359Gen Fusion
EZH22256AD und/oder SMu
FAH1260AR
FANCA4368AR und/oder Sus
FANCB2580XLR und/oder Sus
FANCC1677AR und/oder Sus
FANCD24416AR und/oder Sus
FANCE1611AR und/oder Sus
FANCF1125AR und/oder Sus
FANCG1869AR und/oder Sus
FANCI3987AR und/oder Sus
FANCL1128AR und/oder Sus
FANCM6147AR und/oder Sus
FH1533AD und/oder AR und/oder SMu und/oder Sus
GATA21443AD und/oder SMu
GPC31743XLR und/oder SMu und/oder Sus
GPC41671XLR und/oder Sus
HRAS570AD und/oder SMu und/oder Sus
KRAS567AD und/oder SMu und/oder Sus
L2HGDH1392AR
LZTR12523AD und/oder AR und/oder SMu
MAP2K11182AD
MAP2K21203AD
MAX483AD und/oder Sus
MEN11833AD und/oder Sus
MLH12271AD und/oder AR und/oder Sus
MSH22805AD und/oder AR und/oder Sus
MSH64083AD und/oder AR und/oder Sus
MUTYH1650AR und/oder Sus
NBN2265AR und/oder Ass
NF18457AD und/oder SMu und/oder Sus
NF21788AD
NHP2273AR
NKX2-11206AD
NOP10195AR
NRAS570AD und/oder SMu und/oder Sus
NSD18091AD und/oder SMu
NTRK12373AD und/oder AR
PALB23561AD und/oder Sus
PAX51074AD
PDGFRA3270SMu und/oder Sus
PHOX2B945AD
PMS22589AR und/oder Sus
POLH2142AR
PRKAR1A1146AD und/oder Sus
PTCH14344AD und/oder SMu
PTEN1212AD und/oder SMu und/oder Sus
PTPN111782AD und/oder SMu
RAD51C1131AR und/oder Sus
RAF11947AD
RB12787AD und/oder Sus
RECQL43628AR
REST3294AD und/oder Sus
RET3345AD und/oder Dig und/oder Sus
RIT1660AD
RPL11537AD
RPL35A333AD
RPL5894AD
RPS10498AD
RPS17408AD
RPS19438AD
RPS24393AD
RPS26348AD
RPS7585AD
RUNX11443AD und/oder Gen Fusion
SAMD94770AD und/oder AR und/oder SMu
SDHA1995AD und/oder AR und/oder Sus
SDHAF2501AD und/oder Sus
SDHB843AD und/oder Sus
SDHC510AD und/oder Sus
SDHD480AD und/oder AR und/oder Sus
SETBP14791AD und/oder SMu
SH2B31728AR und/oder SMu
SHOC21749AD
SLX45505AR und/oder Sus
SMAD41659AD und/oder SMu und/oder Sus
SMARCA45040AD und/oder SMu
SMARCB11158AD und/oder SMu und/oder Sus
SMARCE11236AD
SOS14002AD
SQSTM11323AD und/oder AR
STK111302AD und/oder Sus
SUFU1455AD und/oder AR
TERT3399AD und/oder AR und/oder SMu und/oder Sus
TINF21356AD
TMEM127717AD und/oder Sus
TP531182AD und/oder SMu und/oder Sus
TRIM372895AR und/oder Sus
TRIP13870AR
TSC13495AD und/oder Sus
TSC25424AD und/oder Sus
UBE2T594AR
VHL642AD und/oder AR und/oder SMu und/oder Sus
WRAP531647AR
WRN4299AR
WT11569AD und/oder Dig und/oder SMu und/oder Sus
XPA822AR
XPC2823AR
XRCC2843AR

Infos zur Erkrankung

Synonyme
  • 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: Chorea, hereditary benign (NKX2-1)
  • Allelic: Choreoathetosis, hypothyroidism, neonatal respiratory distress (NKX2-1)
  • 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: 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-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, 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, XL (DKC1)
  • Endometrial cancer, familial (MSH6)
  • Erythrocytosis, familial, 2 (VHL)
  • Erythrocytosis, somatic (SH2B3)
  • Faciocutaneoskeletal syndrome (HRAS)
  • 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 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 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)
  • 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)
  • 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)
  • von Hippel-Lindau syndrome (VHL)
Erbgänge, Vererbungsmuster etc.
  • AD
  • AD und/oder AR
  • AD und/oder AR und/oder SMu
  • AD und/oder AR und/oder SMu und/oder Sus
  • AD und/oder AR und/oder Sus
  • AD und/oder Dig und/oder SMu und/oder Sus
  • AD und/oder Dig und/oder Sus
  • AD und/oder Gen Fusion
  • AD und/oder SMu
  • AD und/oder SMu und/oder Meth
  • AD und/oder SMu und/oder Sus
  • AD und/oder Sus
  • AR
  • AR und/oder Ass
  • AR und/oder SMu
  • AR und/oder SMu und/oder Sus
  • AR und/oder Sus
  • Gen Fusion
  • SMu und/oder Sus
  • XLR
  • XLR und/oder SMu und/oder Sus
  • XLR und/oder Sus
OMIM-Ps
  • Keine OMIM-Ps verknüpft
ICD10 Code
Z80.8

Bioinformatik und klinische Interpretation

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