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 1 - 15 of 64

TitleConditions coveredDisorder
Respiratory / Cardiology disorders

Pulmonary arterial Hypertension (PAH)
Hereditary Haemorrhagic Telangiectasia (HHT)

Respiratory DisordersDownload PDF
Syndromes with Prominent Renal Abnormalities #2

Primary membranoproliferative Glomerulonephritis (MPGN)
Atypical haemolytic uraemic Syndrome (HUS)

Renal & Urinary Tract DisordersDownload PDF
Haemostasis, myeloid and marrow failure disorders

Cytopenia and pancytopenia
Monogenic venous thrombosis
Inherited bleeding and/or platelet disorders

Haematological DisordersDownload PDF
Gastrointestinal disorders

Early onset or familial intestinal pseudo obstruction
Non-syndromic familial congenital anorectal malformations
Gastrointestinal epithelial Barrier disorders
Infantile enterocolitis and monogenic Inflammatory bowel disease (IBD)

Gastroenterological DisordersDownload PDF
Thyroid disorders

Congenital Hypothyroidism
Resistance to Thryoid Hormone

EndocrineDownload PDF
Posterior Segment Abnormalities #2

Rod-cone Dystrophy
Developmental Macular and Foveal Dystrophies
Inherited Macular Dystrophy
Leber Congenital Amaurosis (LCA) Early-Onset Severe Retinal Dystrophy (EOSRD)

Ophthalmological DisordersDownload PDF
Posterior Segment Abnormalities #1

Cone Dysfunction Syndromes (2)
Familial Exudative Vitreoretinopathy (FEVR)
Rod Dysfunction Syndromes (1)
Inherited Optic Neuropathies

Ophthalmological DisordersDownload PDF
Ocular Malformations and Ocular Movement Disorders

Anophthalmia/Microphthalmia
Ocular Coloboma
Infantile Nystagmus

Ophthalmological DisordersDownload PDF
Anterior Segment Abnormalities

Cataracts
Glaucoma (developmental)
Corneal Abnormalities

Ophthalmological DisordersDownload PDF
Neuromuscular disorders #2

Limb Girdle Muscular Dystrophy
Distal Myopathies
Rhabdomyolysis & Metabolic Muscle Disorders
Arthrogryposis

NeurologyDownload PDF
Neuromuscular disorders #1

Congenital Muscular Dystrophy
Congenital Myopathy
Congenital Myaesthenia

NeurologyDownload PDF
Neurodevelopmental Disorders #2

Holoprosencephaly
Malformations of Cortical Development (MCD)
Rhombencephalosynapsis

NeurologyDownload PDF
Neurodevelopmental Disorders #1

Intellectual Disability
Classical Tuberous Sclerosis

NeurologyDownload PDF
Neurodegenerative Disorders

Amyotrophic Lateral Sclerosis (ALS) Motor Neuron Disease (MND)
Early Onset & Familial Parkinson’s Disease
Early Onset Dementia
Complex Parkinsonism

NeurologyDownload PDF
Channelopathies & Sleep Disorders

Klein-Levine and other sleep disorders
Skeletal muscle channelopathies
Brain channelopathies

NeurologyDownload PDF
TitleConditions coveredDisorder