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 64

TitleConditions coveredDisorder
Cerebrovascular Disorders, Parenchymal & White Matter Brain Disorders

Moyamoya disease
Vein of Galen malformation
Intracerebral calcification disorders
Inherited white matter disorders

NeurologyDownload PDF
Young Onset Tumour Syndromes

Exceptionally young adult onset cancer
Paediatric congenital malformation-dysmorphism-tumour syndromes

Tumour SyndromesDownload PDF
Muscle and Nerve

Neurofibromatosis Type 1 (NF1)
Familial Tumour Syndromes of the CNS and PNS
Familial Rhabdomyo-sarcoma or sarcoma

Tumour SyndromesDownload PDF
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
Anaemias, red cell disorders and immunodeficiency

Primary immunodeficiency disorders
Hereditary erythrocytosis
Congenital Anaemias

Haematological DisordersDownload PDF
Syndromes with Prominent Renal Abnormalities #1

Familial Haematuria
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
TitleConditions coveredDisorder