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 61

TitleConditions coveredDisorder
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
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
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
TitleConditions coveredDisorder