These guides were developed to support clinicians identifying eligible participants for the 100,000 Genomes Project

Developed in collaboration with University Hospitals Leicester, the Eligibility Wheels were a series of reference tools to help clinicians identify patients to take part in the 100,000 Genomes Project. The wheels brought together conditions that would be seen by a physicians in a clinic setting.

Recruitment of participants to the 100,000 Genomes Project completed in 2018, and so the Eligibility Wheels are provided here as an archive for reference only.

Adrenal, calcium homestasis & growth hormone disorders

Congenital adrenal hypoplasia | Familial or syndromic hypoparathyroidism | IUGR/IGF abnormalities

Anaemias, red cell disorders & immunodeficiency

Primary immunodeficiency disorders | Hereditary erythrocytosis | Congenital anaemias

Anterior segment abnormalities

Cataracts | Glaucoma (developmental) | Corneal abnormalities

Aortopathies & arteriopathies

Familial hypercholesterolaemia | Familial cerebral small vessel disease | Severe hypertriglyceridaemia | Connective tissue disorders and aortopathies

Atopy, autoimmune skin disorders & ectodermal dysplasias

Ectodermal dysplasia | Generalised pustular psoriasis | Severe multi-system atopic disease with high IgE

Balanced translocation & limb disorders

Balanced translocation | RASopathies | VACTERL-like phenotypes

Breast and endocrine

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

Cancers #1

Endometrial cancer | Ovarian cancer | Breast cancer | Prostate cancer | Testicular cancer

Cancers #2

Childhood solid tumours | Melanoma | Sarcoma | Haematological malignancies

Cancers #3

​Lung​ cancer | Bladder cancer | ​Upper​ gastrointestinal​ tumours​ | ​Colorectal ​cancer | ​Renal ​cancer ​
Adult Brain​ Tumours​

Cardiac arrhythmia

Brugada syndrome | Long QT syndrome | Catecholaminergic polymorphic ventricular tachycardia | Unexplained sudden death in the young | Idiopathic ventricular fibrillation

Cardiomyopathy & CHD

Cardiomyopathy | Syndromic congenital heart disease | Familial congenital heart disease​

Cerebrovascular disorders, parenchymal & white matter brain disorders

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

Channelopathies & sleep disorders

Klein-Levine and other sleep disorders | Skeletal muscle channelopathies | Brain channelopathies

Congenital malformations

Rare multisystem ciliopathy disorders | Joubert syndrome | Bardet-Biedl syndrome

Craniosynostosis & choanal anomolies

Choanal atresia | Craniosynotosis

Deafness and congenital structural abnormalities

Ear malformations with hearing impairment | Familial hemifacial microsomia | Bilateral microtia

Diabetes #1

Neonatal diabetes | Diabetes suggestive of monogenic aetiology | Multi-organ autoimmune diabetes | Insulin resistance

Diabetes #2

Hyperinsulinism | Familial young-onset non-insulin-dependent diabetes

Disorders of function

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

DNA repair disorders

Xeroderma pigmentosum-like disorders | Microcephalic dwarfism spectrum | Cockayne syndrome |
Non-Fanconi anemeia

Dysmorphic disorders #1

Syndromic cleft lip and or cleft palate | Familial non-syndromic cleft lip | Familial cleft palate | Radial dysplasia

Dysmorphic disorders #2

PHACE(s) syndrome | Coarse facial features inc Coffin-Siris-like disorders

Fetal disorders

Fetal hydrops | Fetal structural CNS abnormalities | Unexplained monogenic fetal disorders

Gastrointestinal disorders

Early onset or familial intestinal pseudo obstruction | Non-syndromic familial congenital anorectal malformations | Gastrointestinal epithelial barrier disorders | Infantile enterocolitis and monogenic inflammatory bowel disease

GI tract and multiple tumours

Multiple bowel polyps | Multiple tumours

GI tract and skin

Familial colon cancer | Peutz-Jeghers syndrome | Genodermatoses with malignancies

Gonadal & sex development disorders

Female disorders of sex development | Male disorders of sex development | Early onset familial premature ovarian insufficiency | Idiopathic hypogonadotropic hypogonadism

Growth hormone disorders & obesity syndromes

Significant early-onset obesity syndromes | Classical/atypical Beckwith-Wiedemann syndrome | Silver Russell syndrome | Overgrowth disorders

Haemostasis, myeloid & marrow failure disorders

Cytopenia and pancytopenia | Monogenic venous thrombosis | Inherited bleeding and/or platelet disorders

Ichthyoses, keratoderma & neurocutaneous disorders

Autosomal recessive congenital ichthyosis | Familial disseminated superficial actinic Porokeratosis | Palmoplantar keratoderma and erythrokeratodermas | Undiagnosed neurocutaneous disorders

Inherited epilepsy syndromes #1

Familial focal epilepsy | Genetic epilepsies with febrile seizures plus | Familial genetic generalised epilepsies

Inherited epilepsy syndromes #2

Epileptic encephalopathy | Epilepsy plus other features

Kabuki & autophagy

Kabuki syndrome | Vici syndrome and other autophagy disorders

Lymphatic disorders

Milroy disease | Meige disease | Lymphoedema distichiasis​ | Adult brain​ tumours​

Mitochondrial and peroxisomal disorders

Mitchondrial | Peroxisoma biogenesis and other disorders

Motor and sensory disorders of the PNS

Paediatric motor neuronopathies | Charcot-Marie Tooth disease

Motor disorders of the CNS #1

Early onset dystonia | Cerebellar hypoplasia | Hereditary ataxia

Motor disorders of the CNS #2

Neurotransmitter disorders | Hereditary spastic paraplegia | Structural basdal ganglia disorders

Muscle and nerve

Neurofibromatosis type 1 | Familial tumour syndromes of the CNS and PNS | Familial rhabdomyo-sarcoma or sarcoma

Neurodegenerative disorders

Amyotrophic lateral sclerosis motor neuron disease | Early onset and familial Parkinson’s disease | Early onset dementia | Complex Parkinsonism

Neurodevelopmental disorders #1

Intellectual disability | Classical tuberous sclerosis

Neurodevelopmental disorders #2

Holoprosencephaly | Malformations of cortical development | Rhombencephalosynapsis

Neuromuscular disorders #1

Congenital muscular dystrophy | Congenital myopathy | Congenital myaesthenia

Neuromuscular disorders #2

Limb girdle muscular dystrophy | Distal myopathies | Rhabdomyolysis and metabolic muscle disorders | Arthrogryposis

Non-syndromic hearing loss

Congenital hearing impairment | Auditory neuropathy spectrum disorder | Autosomal dominant deafness

Ocular malformations & ocular movement disorders

Anophthalmia/microphthalmia | Ocular coloboma | Infantile nystagmus

Posterior segment abnormalities #1

Cone dysfunction syndromes | Familial exudative vitreoretinopathy | Rod dysfunction syndromes | Inherited optic neuropathies

Posterior segment abnormalities #2

Rod-cone dystrophy | Developmental macular and foveal dystrophies | Inherited macular dystrophy | Leber congenital amaurosis | Early-onset severe retinal dystrophy

Respiratory / cardiology disorders

Pulmonary arterial Hypertension | Hereditary Haemorrhagic Telangiectasia

Respiratory ciliopathies

Non-CF bronchiectasis | Primary ciliary dyskinesia

Respiratory disorders

Familial pulmonary fibrosis | Familial and multiple pulmonary arteriovenous malformations | Familial primary spontaneous pneumothorax

Rheumatological disorders

Juvenile dermatomyositis | Periodic fever syndromes and amyloidosis | Kyphoscoliotic Ehlers-Danlos syndrome | Classical Ehlers-Danlos syndrome

Skeletal dysplasias #1

Chondrodysplasia punctata | Multiple epiphyseal dysplasia | Stickler syndrome | Thoracic dystrophies

Skeletal dysplasias #2

Unexplained skeletal dysplaisia | Osteogenesis imperfecta

Skin adnexa disorders

Familial cicatricial alopecia | Familial hidradenitis suppurativa | Non-syndromic hypotrichosis

Skin fragility disorders & sun-exposure related conditions

Erythropoietic protoporphyria mild variant | Hydroa vacciniforme | Peeling skin syndrome | Epidermolysis bullosa

Specific metabolic abnormalities

Specific metabolic abnormalities | Congential disorders of glycosylation | Undiagnosed metabolic disorders

Structural renal & urinary tract disease

Cystic kidney disease | Congenital anomaly of the kidneys and urinary tract

Syndromes with prominent renal abnormalities #1

Familial haematuria | Proteinuric renal disease

Syndromes with prominent renal abnormalities #2

Primary membranoproliferative glomerulonephritis | Atypical haemolytic uraemic syndrome

Thyroid disorders

Congenital hypothyroidism | Resistance to thyroid hormone

Urea cycle disorders & lysosomal storage disorders

Hyperammonaemia | Mucopolysaccharideosis, Gaucher, Fabry

Young onset tumour syndromes

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