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 31 - 45 of 64

TitleConditions coveredDisorder
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

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

Mitchondrial
Peroxisoma biogenesis and other disorders

Metabolic DisordersDownload PDF
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
Balanced Translocation & Limb Disorders

Balanced Translocation
RASopathies
VACTERL-Like Phenotypes

Dysmorphic & Congenital AbnormalitiesDownload PDF
Dysmorphic Disorders #2

PHACE(s) Syndrome
Coarse Facial Features inc Coffin-Siris-like Disorders

Dysmorphic & Congenital AbnormalitiesDownload PDF
Dysmorphic Disorders #1

Syndromic Cleft Lip and or Cleft Palate
Familial Non-syndromic Cleft Lip and or Familial Cleft Palate
Radial Dysplasia

Dysmorphic & Congenital AbnormalitiesDownload PDF
Neurology - CNS #2

Neurotransmitter Disorders
Hereditary Spastic Paraplegia
Structural Basdal Ganglia Disorders

NeurologyDownload PDF
TitleConditions coveredDisorder