Indikationskriterien für genetische Diagnostik -
Bewertung der Validität und des klinischen Nutzens

Bei der vorliegenden Liste der „Indikationskriterien“ handelt es sich um eine Aufstellung von Erkrankungen, bei denen eine molekulargenetische Diagnostik einen klinisch relevanten Nutzen erbringt. Diese Liste ist nicht vollständig und wird laufend ergänzt.

Verabschiedete Indikationskriterien - Clinical Utility Gene Cards

Legende

  • Die in rot gekennzeichneten Clinical Utility Gene Cards
    wurden auf europäischer Ebene konsentiert und ins Deutsche zurückübersetzt.
  • en = englische Fassung
  • de = deutsche Fassung
DE/EN Version Indikationskriterien (in alphabetischer Reihenfolge)
  16p12.2 microdeletion
  16p13.11 microdeletion syndrome
  3M syndrome
  α-1-antitrypsin deficiency
  α-Mannosidosis
  Aarskog–Scott syndrome (faciogenital dysplasia)
  Abetalipoproteinaemia
  Achromatopsia
  Acrodermatitis enteropathica
de Adrenoleukodystrophie (ALD) / Adrenomyelo-Neuropathie (AMN) [ABCD1]
en Adrenoleukodystrophy
  Alagille Syndrome (ALGS)
  ALG1 defective congenital disorder of glycosylation
  ALG6 defective congenital disorder of glycosylation
  Alport syndrome
  Alström syndrome
  Alström Syndrome - update 2013
  Alveolar rhabdomyosarcoma
de Androgeninsensitivität, komplette (CAIS) [AR]
  Anemia Diamond Blackfan  
  Hereditary thoracic aortic aneurysm and dissection including next-generation sequencing-based approaches
en Angelman Syndrome
de Angelman-Syndrom (AS) [UBE3A]
  Angioedema,  hereditary, with normal C1 inhibitor (HAEnC1)
  Aniridia
  Arterial tortuosity syndrome
  Axenfeld–Rieger syndrome
de Azoospermie, nicht-obstruktive; schwere Oligozoospermie
[AZFa, AZFb, AZFc]
  B4GALT7-defective congenital disorder of glycosylation
  Bardet–Biedl syndrome
  Beckwith–Wiedemann Syndrome
  BEST1-related dystrophies (Bestrophinopathies)
  Biotinidase deficiency
  Blue cone monochromatism
de Familiärer Brust-/Eierstockkrebs [BRCA1/BRCA2]
  Campomelic dysplasia
  Cantú syndrome
  Cardiomyopathy hypertrophic (type 1–14)
  Cardiomyopathy, arrhythmogenic right ventricular (ARVC)
de CBAVD - Vas deferens-Aplasie, kongenitale [CFTR]
  Central core disease
  CHARGE syndrome
  Choroideremia
  Cornelia de Lange syndrome
de Cranio-fronto-nasales Syndrom (CFNS) [EFNB1]
  Cystinosis
  Cystinuria
  Deletion 22q13 syndrome
  Dent disease (Dent-1 and Dent-2)
en DiGeorge syndrome, velocardiofacial syndrome, Shprintzen syndrome, chromosome 22q11.2 deletion syndrome (22q11.2, TBX1)
de DiGeorge-Syndrom, Velocardio-faciales Syndrom 2, Shprintzen-Syndrom, Takao-Syndrom, Sedlackova-Syndrom, Chromosom-22q11-Deletion-Syndrom [22q11.2, TBX1]
  Dilated Cardiomyopathy (CMD)
  DPAGT1 defective congenital disorder of glycosylation
de Duchenne Muskeldystrophie (DMD)
  Dyskeratosis congenita
  Dystrophy, autosomal recessive cone-rod dystrophy
en Ehlers–Danlos syndrome types I–VII
de Ehlers–Danlos-Syndrom Typen I–VII
  Familial erythrocytosis
  Fabry disease
  Familial adenomatous polyposis (FAP) and attenuated FAP (AFAP)
  Fibrodysplasia ossificans progressiva
  Fragile X mental retardation syndrome, fragile X-associated tremor/ataxia syndrome and fragile X-associated primary ovarian insufficiency
de Friedreich-Ataxie (FRDA) [FXN]
  Hereditary diffuse gastric cancer (HDGC)
  Gitelman syndrome
  Glanzmann thrombasthenia
  Gorlin syndrome
  Haemochromatosis [HFE]
  Haemophilia A
  Haemophilia B
de Hereditäre Hämochromatose (Hämochromatose Typ 1) (HFE)
de Hereditäre hämorrhagische Teleangiektasie / Morbus Osler
(HHT) [ENG, ACVRL1 (ALK1)]
de Hereditäre motorische und sensorische Neuropathie Typen 1, 2, 3, 6, X (HMSN1, HMSN2, HMSN3, HMSN6, HMSN X1);
Charcot–Marie–Tooth-Neuropathie Typen 1, 2, 4, X1 (CMT1, CMT2, CMT4, CMTX1);
Déjérine–Sottas-Neuropathie (DSN);
Kongenitale hypomyelinisierend Neuropathie (CHN);
Riesenaxon-Neuropathie 1 (GAN1);
Kongenitale Katarakt, faziale Dysmorphie und Neuropathy‘-Syndrom (CCFDN);
Hereditäre neuralgische Amyotrophie (HNA);
Hereditäre Neuropathie mit Drucklähmungen (HNPP)
  HMSN/HNPP HMSN types 1, 2, 3, 6 (CMT1,2,4, DSN, CHN, GAN, CCFDN, HNA); HNPP
de HNPCC (erbliche kolorektale Karzinom ohne Polyposis) /
Lynch-Syndrom [MLH1, MSH2, MSH6, PMS2]
  Holoprosencephaly
  Huntington’s disease
  Hyperlipoproteinemia, TYPE II
  Hyperthermia malignant
  Familial Hypobetalipoproteinaemia (APOB)
  Familial hypomagnesemia with hypercalciuria and nephrocalcinosis with/without severe ocular involvement
  Hypophosphatasia
  Incontinentia pigmenti
  Johanson–Blizzard syndrome
  Joubert syndrome
  Laing distal myopathy
  Leri-Weill dyschondrosteosis (LWD) and Langer mesomelic dysplasia (LMD)
en Lesch–Nyhan syndrome
de Lesch-Nyhan-Syndrom
Hypoxanthin-Guanin-Phosphoribosyltransferase (HPRT)-1-Mangel
HPRT1-Mangel
HPRT-Mangel
HPRT-Mangel, komplett
HPRT-Mangel, Grad IV
  Lipodystrophy, congenital, generalized
  Lipodystrophy, familial partial
de Lissenzephalie Typ I (klassische)
  Loeys-Dietz syndrome (TGFBR1/2) and related phenotypes
  Long-QT Syndrome (types 1–13)
  Lowe syndrome
  Lynch syndrome (MLH1, MSH2, MSH6, PMS2)
  MAN1B1 defective congenital disorder of glycosylation
  Marfan syndrome type 1 and related phenotypes [FBN1]
de Marfan-Syndrom Typ 1 und verwandte Phänotypen [FBN 1]
de Marfan-Syndrom Typ 2 und Loeys-Dietz-Syndrom [TGFBR1/TGFBR2]
  Maturity-onset diabetes of the young
  Mayer–Rokitansky–Küster–Hauser syndrome
  Meckel syndrome
  Meckel syndrome – update 2016
  Menkes disease
  Microphthalmia, Non-Syndromic, Including Next-Generation Sequencing-Based Approaches
  Mowat–Wilson syndrome
  Mucopolysaccharidosis type II
de Mukopolysaccharidose Typ II
de Mukopolysaccharidose Typ VI
  Multi-minicore disease
  MUTYH-associated polyposis (MAP), autosomal recessive colorectal adenomatous polyposis
de MUTYH-assoziierte Polyposis (MAP), autosomal-rezessive kolorektale adenomatöse Polyposis
  Myopathies, centronuclear and myotubular
  Nemaline myopathy
de Myotone Dystrophie Typ 1 (DM1) [DMPK]
de Myotone Dystrophie Typ 2 (DM2) [ZNF9]
  Multiple endocrine neoplasia type 2
de Noonan-Syndrom [PTPN11, SOS1, RAF1, KRAS]
  Oculocutaneous albinism
  Osteogenesis imperfecta
  Phenylketonuria
  Phosphomannomutase 2 deficiency
  Phosphomannose isomerase deficiency
  Platelet disorder, familial, with associated myeloid malignancies
  Poikiloderma with neutropenia
  Poikiloderma, hereditary fibrosing with tendon contractures, myopathy, and pulmonary fibrosis (POIKTMP)
  Familial polycythaemia vera
  Prader-Willi Syndrome
  Progressive familial intrahepatic cholestasis type 1
  Progressive familial intrahepatic cholestasis type 2
  Progressive familial intrahepatic cholestasis type 3
  Prototypic hereditary recurrent fever syndromes (monogenic autoinflammatory syndromes)

 

Proximal spinal muscular atrophy
  Pseudohypoparathyroidism
  Renal coloboma (Papillorenal) syndrome
  Retinoblastoma
  Rothmund–Thomson syndrome
  Rubinstein–Taybi syndrome (CREBBP, EP300)
  Silver–Russell syndrome
  Sitosterolaemia
  Smith-Lemli-Opitz Syndrome [SLOS]
de Spinale Muskelatrophie Typ I-IV [SMN1]
de Spinocerebelläre Ataxien (verursacht durch Repeat-Expansionen)
  Tachycardia, catecholaminergic polymorphic ventricular (CPVT)
  Tangier disease
  Hereditary thrombocythemia
  Transient Neonatal Diabetes Mellitus, 6q24-related
  Trimethylaminuria
  Tuberous sclerosis complex (TSC1, TSC2)
  Usher syndrome
  Vici Syndrome
  von Hippel–Lindau (VHL)
  von Willebrand disease
  WAGR syndrome
  Werner syndrome
  Williams–Beuren Syndrome [7q11.23]
  Wolf–Hirschhorn (4p-) syndrome
  Wolfram syndrome
  Xeroderma pigmentosum
  X-linked immunodeficiency with magnesium defect, Epstein–Barr virus infection, and neoplasia (XMEN)
de XY-Gonadendysgenesie
  Zellweger syndrome spectrum

 

 
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