Clinical utility gene cards

Unit 2 of the EuroGentest2 initiative commissions the establishment as well as the annual update of the Clinical utility gene cards (CUGCs). CUGCs are disease-specific guidelines regarding the clinical utility of genetic testing. Clinical utility refers to the ability of a genetic test to significantly affect the clinical setting and patient outcome. CUGCs cover all elements relevant for assessing risks and benefits of genetic test application. Due to their clear and concise format, they enable quick guidance to all stakeholders, including clinicians, geneticists, referrers, service providers and payers.

Each CUGC is authored by an international expert team. Potential authors are identified based on their publication record and practical experience. Subsequent to peer-review, the documents are published in the European Journal of Human Genetics (EJHG). All published documents are freely available on the websites of the EJHG and EuroGentest.

Due to the underlying concept, the ACCE framework, the main components of the CUGCs are analytical validity, clinical validity, clinical utility and ethical, legal and social issues. A major challenge is to balance clinical validity, clinical utility and cost-benefit issues: In some cases a test is performing superbly in the laboratory, but is not viable from the clinical or economical point of view. On the other hand some tests are limited in their validity, but nevertheless have great impact on patient and family management. Therefore it is important that the requirements for a test are defined in the context of their impact on the clinical setting and that the laboratory genetic test is only one of the components of an overall evaluation.

The clinical and genetic community is invited to submit proposals to EuroGentest to cover a particular disease. Please contact eurogentest at .


Further information:

Clinical validity and utility of genetic testing – the viewpoint of a clinical geneticist. 

Javaher et al., "EuroGentest: DNA-based testing for heritable disorders in Europe":

Schmidtke and Cassiman, "The EuroGentest Clinical Utility Gene Cards":

Pubmed search for CUGC's:

CUGC disease list

Download the CUGC disease list

New: NGS panel database

With the long-term goal of adapting the CUGC format to next-generation sequencing (NGS) technologies, we have started to build up a NGS panel database.

In this database we present data from NGS providers including panel name, tested genes and disease of interest. Our main purpose is to give users the opportunity to quickly identify diagnostic options according to the different search terms: disease, gene, OMIM number, panel name, provider and Orpha number. Any overlap or gap of tested genes between different panels can easily be determined by comparison.

The NGS providers were identified through a web search using the web search engine Google. In order to specify the test information the respective laboratory websites were reviewed. We initially focus on European NGS panel providers.


The list will be updated regularly. Please note that in the current version the database does not include the association between gene symbol and OMIM phenotype(s). This feature will be implemented in the next version. A prototype of our data collection is being made available as a Microsoft Excel file. The statistics of each version (number of laboratories, NGS tests and genes) are presented on sheet 2.

NGS panels (click here to download)


We encourage NGS providers from the commercial and academic sectors to contact us regarding their current services in order to include them in this database, eurogentest at


Further information:

Dierking  and Schmidtke,  'The future of Clinical Utility Gene Cards in the context of next-generation sequencing diagnostic panels':

Available CUGC

EJHG = Published in EJHG

EJHG Disease Link Date published
EJHG 15q13.3 microdeletion syndrome NEW Download 2014 May 14
EJHG 16p13.11 microdeletion syndrome Download 2013 Oct 9
EJHG 3M syndrome Download 2011 Mar 2
EJHG 3M syndrome-update 2013 Download 2013 Jul 31
EJHG a-1-antitrypsin deficiency Download 2011 May
EJHG a-Mannosidosis Download 2011 Jul
EJHG Aarskog-Scott syndrome (faciogenital dysplasia) Download 2011 Jun 8
EJHG Abetalipoproteinaemia Download 2012 Feb 29
EJHG Achromatopsia Download 2011 Jun
EJHG Achromatopsia - Update 2013 Download 2013 Mar 13
EJHG Acrodermatitis enteropathica Download 2011 Dec14
EJHG Adrenoleukodystrophy (ALD) Download 2011 Nov
EJHG Alagille Syndrome (ALGS) Download 2013 Jul 24
EJHG ALG6 defective congenital disorder of glycosylation NEW Download 2014 July 23
EJHG Alport syndrome Download 2011 Dec 14
EJHG Alström syndrome Download
2011 Apr 27
Alström syndrome - update 2013
Download 2013 Apr 24
EJHG Alveolar rhabdomyosarcoma Download 2011 Aug 10

Angelman-Syndrome (UBE3A) Indication criteria-AS
EJHG Angelman Syndrome NEW Download 2014 June 4
EJHG Arrhythmogenic right ventricular cardiomyopathy (ARVC) Download 2013 June 5
EJHG Axenfeld-Rieger syndrome Download 2010 Oct 13
EJHG Bardet-Biedl syndrome Download 2010 Dec 8
EJHG Beckwith-Wiedemann syndrome Download 2013 Jul 3
EJHG BEST1-related dystrophies (Bestrophinopathies)
Download 2012 Jan 11
EJHG Biotinidase deficiency Download 2012 Feb 29
EJHG Blue cone monochromatism Download 2011 Jun
EJHG Campomelic dysplasia Download 2012 Oct 10
EJHG Catecholaminergic polymorphic ventricular tachycardia (CPVT) Download 2013 Apr 3
EJHG Central core disease Download 2011 Oct 12
Centronuclear and myotubular myopathies
Download 2012 May 23
EJHG CHARGE syndrome Download 2011 Mar 16
EJHG Choroideremia Download 2013 Aug 21

Complete Androgen insensitivity (CAIS) (AR) Indication criteria-CAIS

Cranio-fronto-nasal syndrome (CFNS) (EFNB1) Indication criteria-CFNS
EJHG Cystinosis Download 2013 Sep 18
EJHG Cystinuria Download
2011 Aug 24
EJHG Deletion 22q13 syndrome Download 2010 Dec 8
EJHG Dent disease (Dent-1 and Dent-2) NEW Download 2014 Mar 12
EJHG Diamond Blackfan anemia Download 2011 May
EJHG Diamond Blackfan anemia - update 2013 Download 2013 Mar 6
EJHG DiGeorge syndrome, Velocardio-facial syndrome 2, Shprintzen syndrome (22q11.2, TBX1 ; 10p13-p14) Download 2010 Sep
EJHG Dilated cardiomyopathy (CMD) Download 2012 Dec 19

Duchenne muscular dystrophy (DMD) (Dystrophin) Indication criteria-DMD
EJHG Dyskeratosis congenita Download 2011 May 25
EJHG Ehlers-Danlos syndrome types I-VII Download 2010 Sep
EJHG Ehlers–Danlos syndrome types I–VII and variants - update 2012 Download 2012 Aug 15
EJHG Fabry disease Download 2011 Sep 21
EJHG Familial adenomatous polyposis (FAP) and attenuated FAP (AFAP) Download 2011 Jul

Familial breast/ovary cancer [BRCA1/BRCA2] Indication criteria - BRCA
EJHG Familial erythrocytosis
Download 2012 Jan 25
EJHG Familial Hypobetalipoproteinaemia (APOB) Download 2012 Aug 20
EJHG Familial polycythaemia vera Download 2012 Oct 3
EJHG Fragile X mental retardation syndrome, fragile X-associated
Download 2011 May 4

Friedreich ataxia (FRDA) [FXN] Indication criteria-FRDA
EJHG Gitelman syndrome Download 2011 Feb 23
EJHG Glanzmann thrombasthenia Download 2012 Jul 11
EJHG Gorlin syndrome Download 2011 Feb 9
EJHG Gorlin syndrome - update 2013 Download 2013 Jan 30
EJHG Haemochromatosis [HFE] Download 2010 Sep
EJHG Haemophilia A Download 2011 Jun 8
EJHG Haemophilia B
Download 2012 Jan 25
EJHG Hereditary diffuse gastric cancer (HDGC) Download 2013 Feb 27

Hereditary hemorrhagic teleangiectasia / Osler-Rendu-Weber disease (HHT) [ENG, ACVRL1 (ALK1)] Indication criteria-Osler
EJHG Hereditary thrombocythemia Download 2013 Jun
EJHG HMSN/HNPP HMSN types 1, 2, 3, 6 (CMT1,2,4, DSN, CHN, GAN, CCFDN, HNA); HNPP. Download 2010 Sep
EJHG HNPCC [MLH1, MSH2, MSH6, PMS2] Download 2010 Sep
EJHG Holoprosencephaly Download 2011 Jul 21

Huntington disease, Chorea Huntington [HD] Indication criteria-HD
EJHG Huntington's disease Download 2013 Oct 9
EJHG Hyperlipoproteinemia, TYPE II Download 2013 Nov 20
EJHG Hypertrophic cardiomyopathy (type 1-14) Download 2011 Jan 26
EJHG Hypophosphatasia Download 2011 Mar
EJHG Hypophosphatasia - update 2013 Download 2013 Aug
EJHG Incontinentia pigmenti Download 2012 Oct 10
Johanson–Blizzard syndrome
Download 2013 May 8
EJHG Joubert syndrome Download 2011 Mar 30
EJHG Joubert syndrome - update 2013 Download 2013 Feb 13
EJHG Laing distal myopathy Download 2010 Dec 8
EJHG Leri-Weill dyschondrosteosis (LWD) and Langer mesomelic dysplasia (LMD) Download 2012 Aug 20
EJHG Lesch-Nyhan syndrome Download 2011 Jan 19
EJHG Lesch-Nyhan syndrome - update 2013 Download 2013 Jan 16
EJHG Loeys-Dietz syndrome (TGFBR1/2) and related phenotypes Download 2011 Apr 27
EJHG Long-QT syndrome (types 1-13) Download 2013 Mar 20
EJHG Lynch syndrome (MLH1, MSH2, MSH6, PMS2) Download 2010 Sep 18
EJHG Lynch syndrome (MLH1, MSH2, MSH6, PMS2, EPCAM) - update 2012 Download 2012 Aug 15

EJHG Malignant hyperthermia Download 2011 Jun
EJHG Marfan-syndrome (Type 1) [FBN1] Download 2010 Sep
EJHG Maturity-onset diabetes of the young NEW Download 2014 Feb 12
EJHG Mayer-Rokitansky-Küster-Hauser syndrome Download 2011 Sep 7
EJHG Meckel syndrome Download 2011 Jul
EJHG Menkes disease Download 2011 Apr 13
EJHG Mowat-Wilson syndrome Download 2011 Feb 23
EJHG Mucopolysaccharidosis type II Download 2011 Aug 24

Mucopolysaccharidosis type IV Indication criteria - MPSIV
EJHG Multi-minicore disease Download 2011 Oct 19
EJHG Multiple endocrine neoplasia type 2 Download 2011 Aug 24
EJHG MUTYH-associated polyposis (MAP), autosomal recessive colorectal adenomatous polyposis. Download 2010 Sep
EJHG MUTYH-associated polyposis (MAP), Autosomal recessive colorectal adenomatous polyposis, Multiple colorectal adenomas, Multiple adenomatous polyps (MAP) - update 2012 Download 2012 Aug 8

Myotonic dystrophy type 1 (DM1) (DMPK) Indication criteria-DM1

Myotonic dystrophy type 2 (DM2) (ZNF9) Indication criteria-DM2
EJHG Nemaline myopathy Download 2012 Apr 18

Non-obstructive azoospermia, severe oligozoospermia (AZFa, AZFb, AZFc) Indication criteria-AZF

Noonan syndrome [PTPN11, SOS1, RAF1, KRAS] Indication criteria - Noonan
EJHG Oculocutaneous albinism NEW Download 2014 Feb 12
EJHG Osteogenesis imperfecta Download 2012 Sep 26
EJHG Phenylketonuria Download 2011 Sep 14
EJHG Phosphomannomutase 2 deficiency NEW Download 2014 Jan 15
EJHG Phosphomannose isomerase deficiency NEW Download 2014 Feb 26
EJHG Poikiloderma with neutropenia Download 2013 Jan 16
EJHG Prader-Willi Syndrome NEW Download 2014 Apr 16

Prader-Willi syndrome [SNRPN] Indication criteria-PWS
EJHG Progressive familial intrahepatic cholestasis type 1 Download 2013 Aug 28
EJHG Progressive familial intrahepatic cholestasis type 2 Download 2013 Aug 28
EJHG Progressive familial intrahepatic cholestasis type 3 Download 2013 Sep 4
EJHG Proximal spinal muscular atrophy Download 2012 Apr 18
EJHG Renal coloboma (Papillorenal) syndrome Download 2011 Feb 16
EJHG Retinoblastoma Download 2010 Dec 8
EJHG Rothmund-Thomson syndrome Download 2012 Nov 28
EJHG Silver-Russell syndrome Download 2010 Dec 8
EJHG Smith-Lemli-Opitz Syndrome [SLOS] Download 2013 Jan 16

Spinal muscular atrophy type I-IV [SMN1] Download - SMA
EJHG Transient Neonatal Diabetes Mellitus, 6q24-related NEW Download 2014 Feb 26
EJHG Trimethylaminuria Download 2011 Nov 30

Tuberous sclerosis (TSC) [TSC1, TSC2] Download - TSC
EJHG Tuberous sclerosis complex (TSC1, TSC2) Download 2013 June12

Type I (classic) Lissencephaly Indication criteria - Lissencephaly
EJHG Usher syndrome Download 2011 Mar 9
EJHG Vici syndrome Download 2013 Jul 10
EJHG von Hippel-Lindau (VHL) Download 2013 Aug 28
EJHG von Willebrand disease Download 2011 Jan 5
EJHG WAGR syndrome Download 2011 Apr
EJHG Werner syndrome
Download 2012 Jan 18
EJHG Williams-Beuren Syndrome [7q11.23] NEW Download 2014 Feb 26

Williams-Beuren syndrome [7q11.23; ELN, LIMK1,GTF2I] Download - WBS
EJHG Wolf-Hirschhorn (4p-) syndrome Download 2010 Dec 8
EJHG Xeroderma pigmentosum Download 2013 Oct 9

XY type gonadal dysgenesis criteria Indication criteria-XY-GonadDysgen
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