100,000 Genomes Project Eligibility Wheels Library

Eligibility Wheels Library

Developed in collaboration with University Hospitals Leicester, the 100,000 Genomes Project Eligibility Wheels are a series of easy reference tools to identify patients/participants eligible to take part in the 100,000 Genomes Project. Aimed at NHS staff recruiting patients within GMCs or local delivery partners, the wheels have been developed in-line with the most recent changes to the Project’s eligibility criteria (July 2016).


For instructions on using these eligibility wheels please download our guidance notes



Displaying 46 - 60 of 64

TitleConditions coveredDisorder
Neurology - CNS #1

Early Onset Dystonia
Cerebellar Hypoplasia
Hereditary Ataxia

NeurologyDownload PDF
Endocrine - Gonadal & Sex Development Disorders

Female Disorders of Sex Development
Male Disorders of Sex Development
Early Onset Familial Premature Ovarian Insufficiency
Idiopathic Hypogonadotropic Hypogonadism

EndocrineDownload PDF
Endocrine - Adrenal, Calcium Homestasis & Growth Hormone Disorders

Congenital Adrenal Hypoplasia
Familial or Syndromic Hypoparathyroidism
IUGR/IGF Abnormalities

EndocrineDownload PDF
Fetal Disorders

Fetal Hydrops
Fetal Structural CNS Abnormalities
Unexplained Monogenic Fetal Disorders

Fetal DisordersDownload PDF
Endocrine - Diabetes #2

Hyperinsulinism
Familial Young-onset Non-insulin-dependent Diabetes

EndocrineDownload PDF
Endocrine - Diabetes #1

Neonatal Diabetes
Diabetes Suggestive of Monogenic Aetiology
Multi-organ Autoimmune Diabetes
Insulin Resistance

EndocrineDownload PDF
Cancers #3

Endometrial Cancer
Ovarian Cancer
Breast Cancer
Prostate Cancer
Testicular Cancer

CancersDownload PDF
Cancers #2

Childhood Solid Tumours
Melanoma
Sarcoma
Haematological Malignancies

CancersDownload PDF
Cancers #1

​Lung​ Cancer
Bladder Cancer
​Upper​ Gastrointestinal​ Tumours​
​Colorectal ​Cancer
​Renal ​Cancer ​
Adult Brain​ Tumours​

CancersDownload PDF
Skeletal Displasias #2

Unexplained skeletal dysplaisia
Osteogenesis Imperfecta (OI)

Skeletal DisordersDownload PDF
Skeletal Displasias #1

Chondrodysplasia punctata (CDP)
Multiple Epiphyseal Dysplasia (MED)
Stickler syndrome
Thoracic dystrophies

Skeletal DisordersDownload PDF
Craniosynostosis & Choanal Anomolies

Choanal atresia
Craniosynotosis

Skeletal DisordersDownload PDF
Rheumatology Disorders

Juvenile dermatomyositis
Periodic fever syndromes and amyloidosis
Kyphoscoliotic Ehlers-Danlos syndrome
Classical Ehlers-Danlos Syndrome

Rheumatological DisordersDownload PDF
Respiratory Ciliopathies

Non-CF Bronchiectasis
Primary ciliary dyskinesia

CiliopathiesDownload PDF
Congenital Malformations

Rare multisystem ciliopathy disorders
Joubert syndrome
Bardet-Biedl Syndrome

CiliopathiesDownload PDF
TitleConditions coveredDisorder