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 38

TitleConditions coveredDisorder
Non-Syndromic Hearing Loss

Congenital hearing impairment
Auditory Neuropathy Spectrum Disorder (ANSD)
Autosomal dominant deafness

Hearing & Ear DisordersDownload PDF
Haematological and Immunological Disorders

Primary immunodeficiency disorders
Familial Haemophagocytic lymphohistiocytic Disorders (HLH)
Inherited complement deficiency
Apparent aplastic anaemia/Paroxysmal Nocturnal Haemoglobinuria (PNH)
Anaemias and red cell Disorders

Haematological DisordersDownload PDF
Syndromes with Prominent Renal Abnormalities

Familial Haematuria
Atypical haemolytic uraemic Syndrome (HUS)
Proteinuric renal disease

Renal & Urinary Tract DisordersDownload PDF
Structural Renal & Urinary Tract Disease

Cystic kidney disease
Congenital Anomaly of the Kidneys and Urinary Tract (CAKUT)

Renal & Urinary Tract DisordersDownload PDF
Disorders of Function

Extreme early-onset hypertension
Unexplained kidney failure in young people
Renal tract calcification
Renal tubular acidosis

Renal & Urinary Tract DisordersDownload PDF
DNA Repair Disorders

Xeroderma Pigmentosum (XP)-like disorders
Microcephalic Dwarfism Spectrum
Cockayne syndrome
Non-Fanconi Anemeia

Dysmorphic & Congenital AbnormalitiesDownload PDF
Deafness and Congenital Structural Abnormalities

Ear malformations with hearing impairment
Familial Hemifacial Microsomia (HFM)
Bilateral microtia

Hearing & Ear DisordersDownload PDF
Respiratory Disorders

Familial pulmonary fibrosis
Familial and multiple Pulmonary Arteriovenous Malformations (PAVM)
Familial primary spontaneous pneumothorax
Hereditary Haemorrhagic Telangiectasia (HHT)

Respiratory DisordersDownload PDF
Urea Cycle Disorders & Lysosomal Storage Disorders

Hyperammonaemia
Mucopolysaccharideosis Gaucher, Fabry

Metabolic DisordersDownload PDF
Specific Metabolic Abnormalities

Specific Metabolioc Abnormalities
Congential disorders of glycosylation (CDG)
Undiagnosed Metabolic disorders

Metabolic DisordersDownload PDF
Mitochondrial and Peroxisomal Disorders and Disorders of Extremely low Weight

Severe Familial Anorexia
Mitchondrial
Peroxisoma biogenesis and other disorders

Metabolic DisordersDownload PDF
Tumour Syndromes: Breast and Endocrine

Familial breast cancer
Multiple Endocrine tumours
Parathyroid cancer
Neuro-endocrine tumours (PCC and PGL)
Inherited non-medullary thyroid cancer

Tumour SyndromesDownload PDF
Neurology - PNS

Paediatric Motor Neuronopathies
Charcot-Marie Tooth Disease

NeurologyDownload PDF
Growth Hormone Disorders & Obesity Syndromes

Significant Early-onset Obesity Syndromes
Classical/Atypical Beckwith-Wiedemann Syndrome (BWS)
Silver Russell Syndrome
Overgrowth Disorders

EndocrineDownload PDF
Kabuki & Autophagy

Kabuki Syndrome
Vici Syndrome & Other Autophagy Disorders

Dysmorphic & Congenital AbnormalitiesDownload PDF
TitleConditions coveredDisorder