IllnessHaematological malignancies, germline mutations; differential diagnosis

NGS +

Leukemia predisposition genes: Fanconi anaemia, Diamond-Blackfan anemia, Dyskeratosis congenita, shwachman-Diamond syndrome, severe congenital neutrpenia, familial MDS/AML with mutated GATA2 (Emberger syndrome, MonoMac syndrome), MIRAGE syndrome, Ataxia-pancytopenia syndrome, Bone marrow failure syndrome 1, familial MDS/AML with mutated DDX41, familial platelet disorder with propensity to myeloid malignancy, Thrombocytopenia 2+ 5, Familial AML with CEBPA mutation, Li-Fraumeni syndrome, ALL3 susceptibility, constitutional mismatch repair deficiency syndrome

• Alias: Myeloide Leukämie, Prädisposition
• Allelic: Adrenocortical carcinoma, pediatric (TP53)
• Allelic: Anauxetic dysplasia 1 (RMRP)
• Allelic: Basal cell carcinoma 7 (TP53)
• Allelic: Breast cancer, early-onset, susceptibility to (BRIP1)
• Allelic: Breast cancer, male, susceptibility to(BRCA2)
• Allelic: Breast cancer, susceptibility to (ATM)
• Allelic: Breast cancer, susceptibility to (CHEK2)
• Allelic: Breast cancer, susceptibility to (PALB2)
• Allelic: Breast-ovarian cancer, familial, 1 (BRCA1)
• Allelic: Breast-ovarian cancer, familial, 2 (BRCA2)
• Allelic: Cartilage-hair hypoplasia (RMRP)
• Allelic: Cerebroretinal microangiopathy with calcifications + cysts (CTC1)
• Allelic: Cerebroretinal microangiopathy with calcifications + cysts (STN1)
• Allelic: Choroid plexus papilloma (TP53)
• Allelic: Cleft palate, psychomotor retardation + distinctive facial features (KDM1A)
• Allelic: Colorectal cancer (TP53)
• Allelic: Colorectal cancer, susceptibility to (CHEK2)
• Allelic: Emberger syndrome (GATA2)
• Allelic: Endometrial cancer, familial (MSH6)
• Allelic: Gaucher disease, perinatal lethal (GBA)
• Allelic: Glioblastoma 3(BRCA2)
• Allelic: Glioma susceptibility 1 (TP53)
• Allelic: LEOPARD syndrome 1 (PTPN11)
• Allelic: Lewy body dementia, susceptibility to (GBA)
• Allelic: Medulloblastoma (BRCA2)
• Allelic: Melanoma, cutaneous malignant, 9 (TERT)
• Allelic: Metachondromatosis 156250 AD 3
• Allelic: Metaphyseal dysplasia without hypotrichosis (RMRP)
• Allelic: Muir-Torre syndrome (MLH1, MSh2)
• Allelic: Neurofibromatosis, familial spinal (NF1)
• Allelic: Osteosarcoma (TP53)
• Allelic: Osteosarcoma, soft tissue sarcomas [panelapp)] (RPS27A)
• Allelic: Osteosarcoma, soft tissue sarcomas [panelapp] (RPL23)
• Allelic: Osteosarcoma, soft tissue sarcomas [panelapp] (RPL27)
• Allelic: Osteosarcoma, soft tissue sarcomas [panelapp] (RPL36)
• Allelic: Osteosarcoma, soft tissue sarcomas [panelapp] (RPS15)
• Allelic: Pancreatic cancer 2 (BRCA2)
• Allelic: Pancreatic cancer, susceptibility to, 3 (PALB2)
• Allelic: Pancreatic cancer, susceptibility to, 4 (BRCA1)
• Allelic: Parkinson disease, late-onset, susceptibility to (GBA)
• Allelic: Premature ovarian failure 17 (XRCC2)
• Allelic: Prostate cancer (BRCA2)
• Allelic: Prostate cancer, familial, susceptibility to (CHEK2)
• Allelic: Spermatogenic failure (XRCC2)
• Allelic: Tumoral calcinosis, familial, normophosphatemic (SAMD9)
• Allelic: Watson syndrome (NF1)
• Allelic: Wilms tumor (BRCA2)
• Allelic: XFE progeroid syndrome (ERCC4)
• Anemia, XL, with/-out neutropenia and/or platelet abnormalities (GATA1)
• Aplastic anemia (NBN)
• Aplastic anemia (PRF1)
• Aplastic anemia, susceptibility to (SBDS)
• Ataxia-pancytopenia syndrome (SAMD9L)
• Ataxia-telangiectasia (ATM)
• Autoimmune disease, multisystem, infantile-onset, 1 (STAT3)
• Autoimmune lymphoproliferative syndrome (FAS)
• Autoimmune lymphoproliferative syndrome, type IA (FAS)
• Bloom syndrome (BLM)
• Bone marrow failure syndrome 1 (SRP72)
• Bone marrow failure syndrome 2 (ERCC6L2)
• Bone marrow failure syndrome 3 (DNAJC21)
• Bone marrow failure syndrome 5 (TP53)
• Bone marrow failure syndrome, typ AR [panelapp] (RPL23)
• Bone marrow failure syndrome, typ AR [panelapp] (RPL27)
• Bone marrow failure syndrome, typ AR [panelapp] (RPL36)
• Bone marrow failure syndrome, typ AR [panelapp] (RPS15)
• Bonne marrow failure syndrome, typ AR [panelapp)] (RPS27A)
• 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)
• Diamond-Blackfan anemia 1 (RPS19)
• Diamond-Blackfan anemia 10 (RPS26)
• Diamond-Blackfan anemia 11 (RPL26)
• Diamond-Blackfan anemia 12 (RPL15)
• Diamond-Blackfan anemia 13 (RPS29)
• Diamond-Blackfan anemia 14 with mandibulofacial dysostosis (TSR2)
• Diamond-Blackfan anemia 15 with mandibulofacial dysostosis (RPS28)
• Diamond-Blackfan anemia 16 (RPL27)
• Diamond-Blackfan anemia 17 (RPS27)
• 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)
• Diamond-Blackfan anemia [panelapp)] (RPS27A)
• Diamond-Blackfan anemia [panelapp] (RPL23)
• Diamond-Blackfan anemia [panelapp] (RPL27)
• Diamond-Blackfan anemia [panelapp] (RPL36)
• Diamond-Blackfan anemia [panelapp] (RPS15)
• Diamond-blackfan anemia 3 (RPS24)
• Dyskeratosis congenita, AD 2 (TERT)
• Dyskeratosis congenita, AD 3 (TINF2)
• Dyskeratosis congenita, AD 4 (RTEL1)
• Dyskeratosis congenita, AD 6 (ACD)
• Dyskeratosis congenita, AR 1 (NOP10)
• Dyskeratosis congenita, AR 2 (NHP2)
• Dyskeratosis congenita, AR 3 (WRAP53)
• Dyskeratosis congenita, AR 4 (TERT)
• Dyskeratosis congenita, AR 5 (RTEL1)
• Dyskeratosis congenita, AR 6 (PARN)
• Dyskeratosis congenita, AR 7 (ACD)
• Dyskeratosis congenita, XL (DKC1)
• Fanconi anemia, complementation group A, B, C, D2, E, F, G, I, L (FANCA, ... FANCL)
• Fanconi anemia, complementation group D1 (BRCA2)
• Fanconi anemia, complementation group J (BRIP1)
• Fanconi anemia, complementation group N (PALB2)
• 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)
• Gaucher disease, type I, II, III, IIIC (GBA)
• Hemophagocytic lymphohistiocytosis, familial, 2 (PRF1)
• Hyper-IgE recurrent infection syndrome (STAT3)
• Hyper-IgE recurrent infection syndrome, AR (DOCK8)
• Immunodeficiency 21 (GATA2)
• Immunodeficiency, common variable, 13 (IKZF1)
• Juvenile myelomonocytic leukemia (CBL)
• LIG4 syndrome (LIG4)
• Leukemia, acute lymphoblastic (NBN)
• Leukemia, acute lymphoblastic, susceptibility to, 3 (PAX5)
• Leukemia, acute myeloid (CEBPA)
• Leukemia, acute myeloid (RUNX1)
• Leukemia, acute myeloid (TERT)
• Leukemia, acute myeloid, somatic (CEBPA)
• Leukemia, acute myeloid, somatic (ETV6)
• Leukemia, acute myeloid, susceptibility to (GATA2)
• Leukemia, juvenile myelomonocytic (NF1)
• Leukemia, juvenile myelomonocytic, somatic (PTPN11)
• Li-Fraumeni syndrome (TP53)
• Li-Fraumeni syndrome 2 (CHEK2)
• Lymphoma, non-Hodgkin (PRF1)
• Lymphoproliferative syndrome 1 (ITK)
• Lymphoproliferative syndrome, XL, 1 (SH2D1A)
• MDS, AML [panelapp)] (RPS27A)
• MDS, AML [panelapp] (RPL23)
• MDS, AML [panelapp] (RPL27)
• MDS, AML [panelapp] (RPL36)
• MDS, AML [panelapp] (RPS15)
• MIRAGE syndrome (SAMD9)
• 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)
• Multiple myeloma, resistance to (LIG4)
• Myelodysplastic syndrome, susceptibility to (GATA2)
• Myeloproliferative/lymphoproliferative neoplasms, familial, multiple types, susceptibility (DDX41)
• Neurofibromatosis, type 1 (NF1)
• Neurofibromatosis-Noonan syndrome (NF1)
• Neutropenia, cyclic (ELANE)
• Neutropenia, severe congenital 1, AD (ELANE)
• Neutropenia, severe congenital 3, AR (HAX1)
• Neutropenia, severe congenital, XL (WAS)
• Nijmegen breakage syndrome (NBN)
• Non-hodgkin lymphoma; Squamous carcinoma; Leukemia [panelapp] (RMRP)
• Noonan syndrome 1 (PTPN11)
• Noonan syndrome-like disorder with/-out juvenile myelomonocytic leukemia (CBL)
• Platelet disorder, familial, with associated myeloid malignancy (RUNX1)
• 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)
• Radioulnar synostosis with amegakaryocytic thrombocytopenia 2 (MECOM)
• Revesz syndrome (TINF2)
• Shwachman-Diamond syndrome (SBDS)
• Thrombocytopenia 2 (ANKRD26)
• Thrombocytopenia 5 (ETV6)
• Thrombocytopenia with beta-thalassemia, XL (GATA1)
• Thrombocytopenia, XL (WAS)
• Thrombocytopenia, XL, intermittent (WAS)
• Thrombocytopenia, XL, with/-out dyserythropoietic anemia (GATA1)
• Wiskott-Aldrich syndrome (WAS)
• Xeroderma pigmentosum, group F (ERCC4)
• Xeroderma pigmentosum, type F/Cockayne syndrome (ERCC4)