Klinische FragestellungMonosomie 7-Prädisposition-Syndrome, Differentialdiagnose
Zusammenfassung
Kurzinformation
Umfassendes differentialdiagnostisches panel für Monosomie 7-Prädisposition-Syndrome mit 43 bzw. zusammen genommen 67 kuratierten Genen gemäß klinischer Verdachtsdiagnose
ID
MP9923
Anzahl Gene
66
Akkreditierte Untersuchung
Untersuchte Sequenzlänge
107,5 kb (Core-/Core-canditate-Gene)
152,4 kb (Erweitertes Panel: inkl. additional genes)
152,4 kb (Erweitertes Panel: inkl. additional genes)
Analyse-Dauer
auf Anfrage
Material
- EDTA-Blut (3-5 ml)
Diagnostische Hinweise
NGS +
Genpanel
Ausgewählte Gene
Name | Exon-Länge (bp) | OMIM-G | Referenz-Seq. | Erbgang |
---|---|---|---|---|
BLM | 4254 | NM_000057.4 | AR | |
BRCA2 | 10257 | NM_000059.4 | AR | |
BRIP1 | 3750 | NM_032043.3 | AR | |
CBL | 2721 | NM_005188.4 | AD | |
CEBPA | 1077 | NM_004364.5 | AD | |
DDX41 | 1935 | NM_016222.4 | AD | |
DNAJC21 | 2049 | NM_001012339.3 | AR | |
EFL1 | 3382 | NM_001040610.3 | AR | |
ELANE | 804 | NM_001972.4 | AD | |
ERCC6L2 | 2106 | NM_001010895.4 | AR | |
FANCA | 4368 | NM_000135.4 | AR | |
FANCB | 2580 | NM_001018113.3 | XL, Sus | |
FANCC | 1677 | NM_000136.3 | AR | |
FANCE | 1611 | NM_021922.3 | AR, Sus | |
FANCF | 1125 | NM_022725.4 | AR, Sus | |
FANCG | 1869 | NM_004629.2 | AR, Sus | |
FANCI | 3987 | NM_001113378.2 | AR, Sus | |
G6PC3 | 1041 | NM_138387.4 | AR | |
GATA1 | 1242 | NM_002049.4 | XLR | |
GATA2 | 1443 | NM_032638.5 | AD, Sus | |
GFI1 | 1269 | NM_005263.5 | AD | |
HAX1 | 840 | NM_006118.4 | AR | |
JAGN1 | 552 | NM_032492.4 | AR | |
KRAS | 567 | NM_004985.5 | AD | |
LIG4 | 2736 | NM_002312.3 | AR | |
MLH1 | 2271 | NM_000249.4 | AD, AR, Sus | |
MSH2 | 2805 | NM_000251.3 | n.k. | |
MSH6 | 4083 | NM_000179.3 | n.k. | |
NF1 | 8457 | NM_001042492.3 | AD | |
NRAS | 570 | NM_002524.5 | AD, Sus | |
PMS2 | 2589 | NM_000535.7 | AR, Sus | |
PTPN11 | 1782 | NM_002834.5 | AD | |
RUNX1 | 1443 | NM_001754.5 | AD, Gen Fusion | |
SAMD9 | 4770 | NM_001193307.2 | AD | |
SAMD9L | 4756 | NM_152703.5 | AD | |
SBDS | 753 | NM_016038.4 | AR | |
SRP54 | 1534 | NM_001146282.2 | AD | |
TCIRG1 | 2493 | NM_006019.4 | AR | |
TP53 | 1182 | NM_000546.6 | AD | |
VPS45 | 1617 | NM_007259.5 | AR | |
WRN | 4299 | NM_000553.6 | AR | |
XPC | 2823 | NM_004628.5 | AR | |
ACD | 1647 | NM_001082486.2 | AD, AR | |
ANKRD26 | 5133 | NM_014915.3 | AD | |
ATM | 9171 | NM_000051.4 | AR | |
CTC1 | 3654 | NM_025099.6 | AR | |
DKC1 | 1545 | NM_001363.5 | XLR | |
ETV6 | 1359 | NM_001987.5 | Gen Fusion | |
MPL | 1908 | NM_005373.3 | AD, AR, SMu | |
NBN | 2265 | NM_002485.5 | AR, Sus | |
NHP2 | 273 | NM_001034833.2 | AR | |
NOP10 | 195 | NM_018648.4 | AR | |
PARN | 1920 | NM_002582.4 | AR, AD | |
RPL11 | 537 | NM_000975.5 | AD | |
RPL35A | 333 | NM_000996.4 | AD | |
RPL5 | 894 | NM_000969.5 | AD | |
RPS10 | 498 | NM_001014.5 | AD | |
RPS17 | 408 | NM_001021.6 | AD | |
RPS19 | 438 | NM_001022.4 | AD | |
RPS24 | 393 | NM_033022.4 | AD | |
RPS26 | 348 | NM_001029.5 | AD | |
RTEL1 | 3732 | NM_032957.5 | AD, AR | |
SRP72 | 1833 | NM_001267722.2 | AD | |
TERT | 3399 | NM_198253.3 | Sus | |
TINF2 | 1356 | NM_001099274.3 | AD | |
WRAP53 | 1647 | NM_001143990.2 | AR |
Infos zur Erkrankung
Synonyme
- Alias: Watson disease (NF1)
- Allelic: Colorectal cancer (TP53)
- Allelic: Dursun syndrome (G6PC3)
- Allelic: Leukemia, juvenile myelomonocytic (NF1)
- Allelic: Noonan syndrome 3 (KRAS)
- Allelic: Oculoectodermal syndrome, somatic (KRAS)
- Allelic: Tumoral calcinosis, familial, normophosphatemic (SAMD9)
- Anemia, XL, with/-out neutropenia and/or platelet abnormalities (GATA1)
- Aplastic anemia, susceptibility to (SBDS)
- Ataxia-pancytopenia syndrome (SAMD9L)
- Ataxia-telangiectasia (ATM) 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)
- Cardiofaciocutaneous syndrome 2 (KRAS)
- Cerebroretinal microangiopathy with calcifications + cysts (CTC1)
- Colorectal cancer, hereditary nonpolyposis, type 1 (MSH2)
- 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 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 9 (RPS10)
- Dyskeratosis congenita, AD 2 (TERT)
- Dyskeratosis congenita, AD 3 (TINF2)
- Dyskeratosis congenita, AD 4 (RTEL1)
- 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, XL (DKC1)
- Emberger syndrome (GATA2)
- Familial adenomatous polyposis 4 (MSH3)
- 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)
- Immunodeficiency 21 (GATA2)
- Juvenile myelomonocytic leukemia (CBL)
- LEOPARD syndrome 1 (PTPN11)
- LIG4 syndrome (LIG4)
- 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, somatic (KRAS)
- Leukemia, acute myeloid, susceptibility to (GATA2)
- Leukemia, juvenile myelomonocytic, somatic (PTPN11)
- Leukemia, megakaryoblastic, with/-out Down syndrome, somatic (GATA1)
- MIRAGE syndrome (SAMD9)
- Monosomy 7 myelodysplasia + leukemia syndrome 1 (SAMD9L)
- Monosomy 7 myelodysplasia and leukemia syndrome 2 (SAMD9)
- Multiple myeloma, resistance to (LIG4)
- Myelodysplastic syndrome, susceptibility to (GATA2)
- Myelofibrosis with myeloid metaplasia, somatic (MPL)
- Myeloproliferative/lymphoproliferative neoplasms, familial, multiple types, susceptibility (DDX41)
- Neurofibromatosis, familial spinal (NF1)
- Neurofibromatosis, type 1 (NF1)
- Neurofibromatosis-Noonan syndrome (NF1)
- Neutropenia, cyclic (ELANE)
- Neutropenia, nonimmune chronic idiopathic, of adults (GFI1)
- Neutropenia, severe congenital 1, AD (ELANE)
- Neutropenia, severe congenital 2, AD (GFI1)
- Neutropenia, severe congenital 3, AR (HAX1)
- Neutropenia, severe congenital 4, AR (G6PC3)
- Neutropenia, severe congenital, 5, AR (VPS45)
- Neutropenia, severe congenital, 6, AR (JAGN1)
- Neutropenia, severe congenital, 8, AD (SRP54)
- Nijmegen breakage syndrome (NBN)
- Noonan syndrome 1 (PTPN11)
- Noonan syndrome 6 (NRAS)
- Noonan syndrome-like disorder with/-out juvenile myelomonocytic leukemia (CBL)
- Osteopetrosis, AR 1 (TCIRG)
- 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)
- RAS-associated autoimmune leukoproliferative disorder (KRAS)
- RAS-associated autoimmune lymphoproliferative syndrome type IV, somatic (NRAS)
- Revesz syndrome (TINF2)
- Shwachman-Diamond syndrome (SBDS)
- Shwachman-Diamond syndrome 2 (EFL1)
- Thrombocythemia 2 (MPL)
- Thrombocytopenia 2 (ANKRD26)
- Thrombocytopenia 5 (ETV6)
- Thrombocytopenia with beta-thalassemia, XL (GATA1)
- Thrombocytopenia, XL, with/-out dyserythropoietic anemia (GATA1)
- Thrombocytopenia, congenital amegakaryocytic (MPL)
- Werner syndrome (WRN)
- Xeroderma pigmentosum, group C (XPC)
Erbgänge, Vererbungsmuster etc.
- AD
- AR
- Gen Fusion
- SMu
- Sus
- XL
- XLR
- n.k.
OMIM-Ps
- Multiple OMIM-Ps
ICD10 Code
Bioinformatik und klinische Interpretation
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