ErkrankungMyeloproliferative Neoplasie - genetische Prädisposition; hereditär
Zusammenfassung
Kurzinformation
Umfassendes differentialdiagnostisches panel für Myeloproliferative Neoplasie - genetische Prädisposition; hereditär, mit 88 kuratierten Genen gemäß klinischer Verdachtsdiagnose
ID
MP0990
Anzahl Gene
82
Akkreditierte Untersuchung
Untersuchte Sequenzlänge
0,0 kb (Core-/Basis-Gene)
178,0 kb (Erweitertes Panel)
178,0 kb (Erweitertes Panel)
Analyse-Dauer
auf Anfrage
Material
- EDTA-Blut (3-5 ml)
Diagnostische Hinweise
NGS +
Genpanel
Ausgewählte Gene
Name | Exon-Länge (bp) | OMIM-G | Erbgang |
---|---|---|---|
ACD | 1647 | AD und/oder AR | |
ANAPC1 | 5835 | AR | |
ANKRD26 | 5133 | AD und/oder SMu | |
ATM | 9171 | AD und/oder AR und/oder SMu und/oder Sus | |
BLM | 4254 | AR und/oder Sus | |
BRCA1 | 5592 | AD und/oder AR und/oder SMu und/oder Sus | |
BRCA2 | 10257 | AD und/oder AR und/oder SMu und/oder Sus | |
BRIP1 | 3750 | AD und/oder Sus | |
CBL | 2721 | AD und/oder SMu | |
CEBPA | 1077 | AD und/oder SMu | |
CTC1 | 3654 | AR | |
DDX41 | 1935 | AD | |
DKC1 | 1545 | XLR | |
DNAJC21 | 2049 | AR | |
DOCK8 | 6300 | AR | |
ELANE | 804 | AD | |
ERCC4 | 2751 | AR | |
ETV6 | 1359 | Gen Fusion | |
FANCA | 4368 | AR und/oder Sus | |
FANCB | 2580 | XLR und/oder Sus | |
FANCC | 1677 | AR und/oder Sus | |
FANCE | 1611 | AR und/oder Sus | |
FANCF | 1125 | AR und/oder Sus | |
FANCG | 1869 | AR und/oder Sus | |
FANCI | 3987 | AR und/oder Sus | |
FANCL | 1128 | AR und/oder Sus | |
FAS | 1008 | AD und/oder SMu | |
GATA1 | 1242 | XLR und/oder SMu | |
GATA2 | 1443 | AD und/oder SMu | |
GBA | 1611 | AD und/oder AR und/oder Sus | |
HAX1 | 840 | AR | |
IKZF1 | 1560 | AD und/oder SMu | |
ITK | 1863 | AR | |
LIG4 | 2736 | AR und/oder SMu und/oder Sus | |
MAD2L2 | 683 |
| AR |
MLH1 | 2271 | AD und/oder AR und/oder Sus | |
MSH2 | 2805 | AD und/oder AR und/oder Sus | |
MSH6 | 4083 | AD und/oder AR und/oder Sus | |
NAF1 | 1631 | AD | |
NBN | 2265 | AR und/oder Ass | |
NF1 | 8457 | AD und/oder SMu und/oder Sus | |
NHP2 | 273 | AR | |
NOP10 | 195 | AR | |
PALB2 | 3561 | AD und/oder Sus | |
PARN | 1920 | AD und/oder AR | |
PAX5 | 1074 | AD | |
PMS2 | 2589 | AR und/oder Sus | |
PRF1 | 1668 | AR | |
PTPN11 | 1782 | AD und/oder SMu | |
RECQL4 | 3628 | AR | |
RMRP | 300 | AR | |
RPL11 | 537 | AD | |
RPL15 | 615 | AD | |
RPL23 | 457 | AD | |
RPL26 | 438 | AD | |
RPL27 | 411 | AD | |
RPL31 | 1143 |
| AD |
RPL36 | 318 | AD | |
RPL5 | 894 | AD | |
RPS10 | 498 | AD | |
RPS15 | 438 | AD | |
RPS26 | 348 | AD | |
RPS27 | 255 | AD | |
RPS27A | 471 | AD | |
RPS28 | 210 | AD | |
RPS29 | 204 | AD | |
RPS7 | 585 | AD | |
RTEL1 | 3732 | AD und/oder AR | |
RUNX1 | 1443 | AD und/oder Gen Fusion | |
SAMD9L | 4756 | AD | |
SH2D1A | 378 | XLR | |
SLX4 | 5505 | AR und/oder Sus | |
STAT3 | 2313 | AD und/oder Mult | |
STN1 | 1221 | AR | |
TERT | 3399 | AD und/oder AR und/oder SMu und/oder Sus | |
TINF2 | 1356 | AD | |
TP53 | 1182 | AD und/oder SMu und/oder Sus | |
TSR2 | 576 | XLR | |
UBE2T | 594 | AR | |
WAS | 1509 | XLR | |
WRAP53 | 1647 | AR | |
XRCC2 | 843 | AR |
Infos zur Erkrankung
Klinischer Kommentar
Myelodysplastische Syndrome als Gruppe von malignen Blut- + Knochenmarkserkrankungen, Stammzellen reifen nicht aus, vermehrt unreife Zellen, Blasten + dysplastische Zellen; normale reife Zellen im Blut nehmen ab, weniger Erythrozyten, weiße Blutkörperchen, Thrombozyten; Anämie, Neutropenie, Thrombozytopenie; periphere Zellzahlen können unauffällig sein, aber Blut- + Knochenmarkzellen sind dennoch anormal.
Synonyme
- Allelic: Breast cancer, susceptibility to (RAD51)
- Allelic: Breast-ovarian cancer, familial, susceptibility to, 3 (RAD51C)
- Allelic: Colorectal cancer, hereditary nonpolyposis, types 1, 2, 4, 5 (MSH2, MLH1, PMS2, MSH6)
- Allelic: Immunodeficiency 21 (GATA2)
- Allelic: Melanoma, cutaneous malignant, 9 (TERT)
- Allelic: Metachondromatosis (PTPN11)
- Allelic: Mirror movements 2 (RAD51)
- Allelic: Multiple myeloma, resistance to (LIG4)
- Allelic: Neurofibromatosis, familial spinal (NF1)
- Allelic: Premature ovarian failure 15 (FANCM)
- Allelic: Spermatogenic failure 28 (FANCM)
- Allelic: Uveal melanoma, susceptibility to, 1 (MBD4)
- Allelic: Xeroderma pigmentosum, group F (ERCC4)
- Anauxetic dysplasia 1 (RMRP)
- 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, type IA (FAS)
- BM failure syndrome type AR [panelapp] (FANCM, NAF1)
- BM failure syndrome, type AR [panelapp] (RPL23, RPL31, RPL36, RPS15, RPS27A)
- Baller-Gerold syndrome (RECQL4)
- Bloom syndrome (BLM)
- Bone marrow failure syndrome 2 (ERCC6L2)
- Bone marrow failure syndrome 5 (TP53)
- Cartilage-hair hypoplasia (RMRP)
- Cerebroretinal microangiopathy with calcifications + cysts (CTC1)
- Cerebroretinal microangiopathy with calcifications + cysts 2 (STN1)
- 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 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)
- Diamond-Blackfan anemia [panelapp] (RPL23, RPL31, RPL36, RPS15, RPS27A)
- Dyskeratosis congenita [panelapp] (NAF1)
- 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)
- Emberger syndrome; primary lymphedema with myelodysplasia (GATA2)
- Fanconi anemia, complementation group A-M (FANCA-FANCM)
- Fanconi anemia, complementation group D1 (BRCA2)
- Fanconi anemia, complementation group D2 (FANCD2)
- Fanconi anemia, complementation group J (BRIP1)
- 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 R (RAD51)
- 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)
- Head/neck + anogenital squamous cell, liver, esophagus CA; squamous c. CA: oral, GI, vulva (FANCB-M)
- Hemophagocytic lymphohistiocytosis, familial, 2 (PRF1)
- Hemophagocytic lymphohistiocytosis, familial, 3 (UNC13D)
- Hemophagocytic lymphohistiocytosis, familial, 4 (STX11)
- Hemophagocytic lymphohistiocytosis, familial, 5, +/- microvillus inclusion disease (STXBP2)
- Hyper-IgE recurrent infection syndrome (STAT3)
- Hyper-IgE recurrent infection syndrome, AR (DOCK8)
- Juvenile myelomonocytic leukemia (CBL)
- LEOPARD syndrome 1 (PTPN11)
- 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, susceptibility to (GATA2)
- Leukemia, juvenile myelomonocytic (NF1)
- Li-Fraumeni syndrome (TP53)
- Lymphoma, non-Hodgkin (PRF1)
- Lymphoproliferative syndrome 1 (ITK)
- Lymphoproliferative syndrome, XL, 1 (SH2D1A)
- MDS, AML [panelapp] (RPL23, RPL31, RPL36, RPS15, RPS27A)
- Metaphyseal dysplasia without hypotrichosis (RMRP)
- Mismatch repair cancer syndrome 1, 2, 3, 4 (MLH1, MSH2, MSH6, PMS2)
- Monosomy 7 myelodysplasia and leukemia syndrome 1 (SMAD9L)
- Muir-Torre syndrome (MLH1, MSH2)
- Myelodysplastic syndrome, susceptibility to (GATA2)
- Myeloproliferative/lymphoproliferative neoplasms, familial, multiple types, suscept. to (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)
- Noonan syndrome 1 (PTPN11)
- Noonan syndrome-like disorder with or without 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)
- RAPADILINO syndrome (RECQL4)
- Revesz syndrome (TINF2)
- Rothmund-Thomson syndrome, type 1 (ANAPC1)
- Rothmund-Thomson syndrome, type 2 (RECQL4)
- 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)
- Tumor predisposition syndrome 2 (MBD4)
- Watson syndrome (NF1)
- Wiskott-Aldrich syndrome (WAS)
Erbgänge, Vererbungsmuster etc.
- AD
- AD und/oder AR
- AD und/oder AR und/oder SMu und/oder Sus
- AD und/oder AR und/oder Sus
- AD und/oder Gen Fusion
- AD und/oder Mult
- AD und/oder SMu
- AD und/oder SMu und/oder Sus
- AD und/oder Sus
- AR
- AR und/oder Ass
- AR und/oder SMu und/oder Sus
- AR und/oder Sus
- Gen Fusion
- XLR
- XLR und/oder SMu
- XLR und/oder Sus
OMIM-Ps
- Multiple OMIM-Ps
ICD10 Code
C94.6-
Bioinformatik und klinische Interpretation
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