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 16 - 30 of 61

TitleConditions coveredDisorder
GI Tract and Skin

Familial colon cancer
Peutz-Jeghers Syndrome (PJS)
Genodermatoses with malignancies

Tumour SyndromesDownload PDF
GI Tract and Multiple Tumours

Multiple bowel polyps
Multiple tumours

Tumour SyndromesDownload PDF
Inherited Epilepsy Syndromes #2

Epileptic Encephalopathy
Epilepsy plus other features

NeurologyDownload PDF
Inherited Epilepsy Syndromes #1

Familial Focal epilepsy
Genetic Epilepsies with Febrile Seizures Plus
Familial Genetic Generalised Epilepsies

NeurologyDownload PDF
Skin Fragility Disorders & Sun-exposure Related Conditions

Erythropoietic protoporphyria mild variant
Hydroa vacciniforme
Peeling skin syndrome
Epidermolysis Bullosa (EB)

Dermatological DisordersDownload PDF
Skin Adnexa Disorders

Familial Cicatricial Alopecia
Familial Hidradenitis Suppurativa
Non-syndromic hypotrichosis

Dermatological DisordersDownload PDF
Ichthyoses, Keratoderma & Neurocutaneous disorders

Autosomal recessive congenital ichthyosis
Familial disseminated superficial actinic Porokeratosis (DSAP)
Palmoplantar Keratoderma and erythrokeratodermas
Undiagnosed neurocutaneous disorders

Dermatological DisordersDownload PDF
Atopy, Autoimmune Skin Disorders & Ectodermal Dysplasias

Ectodermal dysplasia
Generalised Pustular Psoriasis
Severe multi-system atopic disease with high IgE

Dermatological DisordersDownload PDF
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
TitleConditions coveredDisorder