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Below is the list of EuroGentest Clinical Utility Gene Cards currently available on the

Orphanet website:

Ehlers–Danlos syndrome, types 1, 2, 3, 4, 6, 7a, 7b, 7c:


http://www.nature.com/ejhg/journal/v18/n9/pdf/ejhg2009227a.pdf

Lynch syndrome:
http://www.nature.com/ejhg/journal/v18/n9/pdf/ejhg2009232a.pdf

Haemochromatosis type 1:
http://www.nature.com/ejhg/journal/v18/n9/pdf/ejhg2009245a.pdf

Marfan syndrome, type 1:


http://www.nature.com/ejhg/journal/v18/n9/pdf/ejhg201042a.pdf

DiGeorge syndrome:
http://www.nature.com/ejhg/journal/v18/n9/pdf/ejhg20105a.pdf

Hereditary motor and sensory neuropathy:


Charcot–Marie–Tooth neuropathy types:
Giant axonal neuropathy:
Congenital cataracts, facial dysmorphism and neuropathy syndrome:
Hereditary neuralgic amyotrophy:
Congenital hypomyelinating neuropathy:
Hereditary neuropathy with liability to pressure palsies:
http://www.nature.com/ejhg/journal/v18/n9/pdf/ejhg201075a.pdf

MUTYH-associated polyposis:
http://www.nature.com/ejhg/journal/v18/n9/pdf/ejhg201077a.pdf

Hypoxanthine-guanine phosphoribosyltransferase 1 deficiency


Lesch-Nyhan syndrome
http://www.nature.com/ejhg/journal/vaop/ncurrent/pdf/ejhg2010109a.pdf

Holoprosencephaly
Middle interhemispheric variant of holoprosencephaly
http://www.nature.com/ejhg/journal/vaop/ncurrent/pdf/ejhg2010110a.pdf

Axenfeld's anomaly
Rieger syndrome
Rieger-Axenfeld anomaly
http://www.nature.com/ejhg/journal/vaop/ncurrent/pdf/ejhg2010163a.pdf

Hypophosphatasia
http://www.nature.com/ejhg/journal/vaop/ncurrent/pdf/ejhg2010170a.pdf
Phenylketonuria:
http://www.eurogentest.org/web/files/public/unit3/ClinicalUtilityGeneCards/Indication%20criteria%
20-%20PKU.pdf

Williams syndrome:
http://www.eurogentest.org/web/files/public/unit3/ClinicalUtilityGeneCards/Indication%20crite
ria%20-%20WBS.pdf

Fabry disease:
http://www.eurogentest.org/web/files/public/unit3/ClinicalUtilityGeneCards/Indication%20crite
ria%20-%20Fabry.pdf

Mucopolysaccharidosis type 2:
http://www.eurogentest.org/web/files/public/unit3/ClinicalUtilityGeneCards/Indication%20crite
ria%20-%20MPSII.pdf

Mucopolysaccharidosis type 6:
http://www.eurogentest.org/web/files/public/unit3/ClinicalUtilityGeneCards/Indication%20crite
ria%20-%20MPSVI.pdf

Familial adenomatous polyposis:


http://www.eurogentest.org/web/files/public/unit3/ClinicalUtilityGeneCards/Indication%20crite
ria%20-%20FAP.pdf

Tuberous sclerosis:
http://www.eurogentest.org/web/files/public/unit3/ClinicalUtilityGeneCards/Indication%20crite
ria%20-%20TSC.pdf

Angleman syndrome:
http://www.eurogentest.org/web/files/public/unit3/ClinicalUtilityGeneCards/Indication%20crite
ria%20-%20AS.pdf

Complete androgen insensitivity:


http://www.eurogentest.org/web/files/public/unit3/ClinicalUtilityGeneCards/Indication%20crite
ria%20-%20CAIS.pdf

Craniofrontonasal dysplasia:
http://www.eurogentest.org/web/files/public/unit3/ClinicalUtilityGeneCards/Indication%20crite
ria%20-%20CFNS.pdf

Muscular dystrophy, Duchenne type:


http://www.eurogentest.org/web/files/public/unit3/ClinicalUtilityGeneCards/Indication%20crite
ria%20-%20DMD.pdf

FRAXE syndrome:
http://www.eurogentest.org/web/files/public/unit3/ClinicalUtilityGeneCards/Indication%20crite
ria%20-%20fraX.pdf

Friedreich ataxia:
http://www.eurogentest.org/web/files/public/unit3/ClinicalUtilityGeneCards/Indication%20crite
ria%20-%20FRDA.pdf

Rendu-Osler-Weber disease:
http://www.eurogentest.org/web/files/public/unit3/ClinicalUtilityGeneCards/Indication%20crite
ria%20-%20Osler.pdf
Huntington disease:
http://www.eurogentest.org/web/files/public/unit3/ClinicalUtilityGeneCards/Indication%20crite
ria%20-%20HD.pdf

Loeys-Dietz syndrome / Marfan type 2:


http://www.eurogentest.org/web/files/public/unit3/ClinicalUtilityGeneCards/Indication%20crite
ria%20-%20MFS2%20LDS.pdf

Steinert disease:
http://www.eurogentest.org/web/files/public/unit3/ClinicalUtilityGeneCards/Indication%20crite
ria%20-%20DM1.pdf

Proximal myotonic myopathy:


http://www.eurogentest.org/web/files/public/unit3/ClinicalUtilityGeneCards/Indication%20crite
ria%20-%20DM2%20corrected%20nov09.pdf

Non-obstructive Azoospermia / severe oligozoospermia:


http://www.eurogentest.org/web/files/public/unit3/ClinicalUtilityGeneCards/Indication%20crite
ria%20-%20AZF.pdf

Prader-Willi syndrome:
http://www.eurogentest.org/web/files/public/unit3/ClinicalUtilityGeneCards/Indication%20crite
ria%20-%20PWS.pdf

Complete gonadal dysgenesis, 46,XY type:


http://www.eurogentest.org/web/files/public/unit3/ClinicalUtilityGeneCards/Indication%20crite
ria%20-%20XY-GonadDysgen.pdf

Adrenoleukodystrophy:
http://www.eurogentest.org/web/files/public/unit3/ClinicalUtilityGeneCards/Indication%20crite
ria%20-%20ALD%20AMN.pdf

Proximal spinal muscular atrophy types 1–4:


http://www.eurogentest.org/web/files/public/unit3/ClinicalUtilityGeneCards/Indication%20crite
ria%20-%20SMA.pdf

Hereditary breast cancer:


http://www.eurogentest.org/web/files/public/unit3/ClinicalUtilityGeneCards/Indication%20crite
ria%20-%20BRCA.pdf

Noonan syndrome:
http://www.eurogentest.org/web/files/public/unit3/ClinicalUtilityGeneCards/Indication%20crite
ria%20-%20Noonan.pdf

Classic lissencephaly, Miller-Dieker syndrome, Lissencephaly, X-linked, Double cortex


syndrome:
http://www.eurogentest.org/web/files/public/unit3/ClinicalUtilityGeneCards/Indication%20crite
ria%20-%20Lissencephaly.pdf