Eligibility Wheels

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

Primary immunodeficiency disorders | Hereditary erythrocytosis | Congenital anaemias

Cataracts | Glaucoma (developmental) | Corneal abnormalities

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

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

Balanced translocation | RASopathies | VACTERL-like phenotypes

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

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

Childhood solid tumours | Melanoma | Sarcoma | Haematological malignancies

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

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

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

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

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

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

Choanal atresia | Craniosynotosis

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

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

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

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

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

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

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

Fetal hydrops | Fetal structural CNS abnormalities | Unexplained monogenic fetal 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

Multiple bowel polyps | Multiple tumours

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

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

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

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

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

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

Epileptic encephalopathy | Epilepsy plus other features

Kabuki syndrome | Vici syndrome and other autophagy disorders

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

Mitchondrial | Peroxisoma biogenesis and other disorders

Paediatric motor neuronopathies | Charcot-Marie Tooth disease

Early onset dystonia | Cerebellar hypoplasia | Hereditary ataxia

Neurotransmitter disorders | Hereditary spastic paraplegia | Structural basdal ganglia disorders

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

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

Intellectual disability | Classical tuberous sclerosis

Holoprosencephaly | Malformations of cortical development | Rhombencephalosynapsis

Congenital muscular dystrophy | Congenital myopathy | Congenital myaesthenia

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

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

Anophthalmia/microphthalmia | Ocular coloboma | Infantile nystagmus

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

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

Pulmonary arterial Hypertension | Hereditary Haemorrhagic Telangiectasia

Non-CF bronchiectasis | Primary ciliary dyskinesia

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

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

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

Unexplained skeletal dysplaisia | Osteogenesis imperfecta

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

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

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

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

Familial haematuria | Proteinuric renal disease

Primary membranoproliferative glomerulonephritis | Atypical haemolytic uraemic syndrome

Congenital hypothyroidism | Resistance to thyroid hormone

Hyperammonaemia | Mucopolysaccharideosis, Gaucher, Fabry

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