The eligibility statements provide guidance to recruiting clinicians across England about the patients most likely to benefit from the opportunity of diagnostic whole genome sequencing and who are therefore eligible for recruitment into the Genomics England Rare Diseases Programme.
For each disease in the approved conditions list an “eligibility statement” is provided composed of the following key information:
- Inclusion criteria – the clinical features, characteristics or investigations that probands with a given disease must have in order to be eligible for recruitment.
- Exclusion criteria – the clinical features, characteristics or investigation findings that participants with a given disease must not have in order to be eligible for recruitment.
- Prior genetic testing – this sets out both in general terms, and where appropriate more specifically, the genetic testing which participants with a given disease must have performed prior to recruitment.
The eligibility statements will be continuously reviewed and developed over time in light of new discoveries and changes in clinical practice.
Search:
(clear)
- Amelogenesis imperfecta
- Amyotrophic lateral sclerosis/Motor neuron disease
- Anophthalmia/Microphthalmia
- Apparent aplastic anaemia or paroxysmal nocturnal haemoglobinuria
- Arrhythmogenic Right Ventricular Cardiomyopathy
- Arthrogryposis
- Atypical Beckwith-Wiedemann syndrome
- Atypical haemolytic uraemic syndrome
- Auditory Neuropathy Spectrum Disorder
- Autosomal dominant deafness
- Autosomal recessive congenital ichthyosis
- Balanced translocations with an unusual phenotype
- Bardet-Biedl Syndrome
- Bilateral microtia
- Brain channelopathy
- Brugada Syndrome
- BWS
- Cardio-facio-cutaneous syndrome
- Cataracts
- Catecholaminergic Polymorphic Ventricular Tachycardia
- Cerebellar hypoplasia
- Cerebral folate deficiency
- Charcot-Marie-Tooth disease
- Choanal atresia
- Chondrodysplasia punctata
- Classical Beckwith-Wiedemann syndrome
- Classical Ehlers-Danlos Syndrome
- Classical tuberous sclerosis
- Clinically diagnosed Marfan syndrome with no FBN1 mutation
- CMT,HSMN
- Coarse facial features including Coffin-Siris-like disorders
- Cockayne syndrome
- Complex Parkinsonism (includes pallido-pyramidal syndromes)
- Cone Dysfunction Syndrome
- Congenital adrenal hypoplasia
- Congenital anaemias
- Congenital Anomaly of the Kidneys and Urinary Tract (CAKUT)
- Congenital hearing impairment
- Congenital hypothyroidism
- Congenital muscular dystrophy
- Congenital myaesthenia
- Congenital myopathy
- Congential disorders of glycosylation
- Corneal abnormalities
- Costello syndrome
- Craniosynostosis syndromes
- Cystic kidney disease
- Cytopenia and pancytopenia
- Developmental macular and foveal dystrophy
- Diabetes with additional phenotypes suggestive of a monogenic aetiology
- Dilated Cardiomyopathy
- Dilated Cardiomyopathy and conduction defects
- Disorders of sex development
- Disseminated non-tuberculous mycobacterial infection
- Distal myopathies
- Ductal plate malformation
- Ear malformations with hearing impairment
- Early Onset and Familial Parkinsons disease
- Early onset dementia
- Early onset dementia (encompassing fronto-temporal dementia and prion disease)
- Early onset dystonia
- Early onset familial premature ovarian insufficiency
- Early onset or familial intestinal pseudo obstruction
- Early onset pancytopenia and red cell disorders
- Ectodermal dysplasia without a known gene mutation
- Epidermolysis bullosa
- Epilepsy plus other features
- Epileptic encephalopathy
- Erythropoietic protoporphyria, mild variant
- Exceptionally young adult onset cancer
- Extreme early-onset hypertension
- Familial and multiple pulmonary arteriovenous malformations
- Familial breast and or ovarian cancer
- Familial cerebral small vessel disease
- Familial cicatricial alopecia
- Familial colon cancer
- Familial congenital heart disease
- Familial disseminated superficial actinic porokeratosis
- Familial exudative vitreoretinopathy
- Familial focal epilepsies
- Familial genetic generalised epilepsies
- Familial haematuria
- Familial hemifacial microsomia
- Familial hidradenitis suppurativa
- Familial Hirschsprung Disease
- Familial hypercholesterolaemia
- Familial Meniere Disease
- Familial non-syndromic cleft lip and or familial cleft palate
- Familial or syndromic hypoparathyroidism
- Familial primary spontaneous pneumothorax
- Familial pulmonary fibrosis
- Familial rhabdomyosarcoma or sarcoma
- Familial Thoracic Aortic Aneurysm Disease
- Familial tumour syndromes of the central and peripheral nervous system
- Familial Tumours Syndromes of the central and peripheral Nervous system
- Familial young-onset non-insulin-dependent diabetes
- Fetal hydrops
- Fetal structural CNS abnormalities
- GAinS study
- Gastrointestinal epithelial barrier disorders
- Generalised pustular psoriasis
- Genetic Epilepsy with Febrile Seizures plus (GEFS+)
- Genodermatoses with malignancies
- Glaucoma (developmental)
- Hereditary ataxia
- Hereditary erythrocytosis
- Hereditary haemorrhagic telangiectasia
- Hereditary spastic paraplegia
- Holoprosencephaly
- Hydroa vacciniforme
- Hyperammonaemia
- Hyperinsulinism
- Hypertrophic Cardiomyopathy
- Idiopathic hypogonadotropic hypogonadism
- Idiopathic ventricular fibrillation
- Infantile enterocolitis and monogenic inflammatory bowel disease
- Infantile nystagmus
- Inherited bleeding and or platelet disorders
- Inherited macular dystrophy
- Inherited non-medullary thyroid cancer
- Inherited optic neuropathies
- Inherited white matter disorders
- Insulin resistance (including lipodystrophy)
- Intellectual disability
- Intracerebral calcification disorders
- IUGR and IGF abnormalities
- Joubert syndrome
- Juvenile dermatomyositis
- Kabuki syndrome
- Ketotic hypoglycaemia
- Kleine-Levin Syndrome (KLS) and other inherited sleep disorders
- Kyphoscoliotic Ehlers-Danlos syndrome
- Lactic acidosis
- Leber Congenital Amaurosis or Early-Onset Severe Retinal Dystrophy
- Left Ventricular Noncompaction Cardiomyopathy
- Legius syndrome
- LEOPARD syndrome
- LGMD
- Limb girdle muscular dystrophy
- Lipoedema disease
- Loeys-Dietz syndrome and Loeys-Dietz syndrome like conditions
- Long QT syndrome
- Lymphoedema distichiasis
- Malformations of cortical development
- Meige Disease
- Milroy disease
- Mitochondrial disorders
- MND
- Monogenic venous thrombosis
- Motile ciliary disorders
- Moyamoya disease
- Mucopolysaccharideosis, Gaucher, Fabry
- Multi-organ autoimmune diabetes
- Multiple bowel polyps
- Multiple endocrine tumours
- Multiple epiphyseal dysplasia
- Multiple Tumours
- Mutation negative Congenital Contractural Arachnodactyly
- Neonatal cholestasis
- Neonatal diabetes (diagnosed less than 6 months)
- Neonatal or paediatric intensive care unit admission with a likely monogenic disease
- Neuro-endocrine Tumours- PCC and PGL
- Neurofibromatosis Type 1
- Neurotransmitter disorders
- Non-CF bronchiectasis
- Non-Fanconi anaemia
- Non-syndromic familial congenital anorectal malformations
- Non-syndromic hypotrichosis
- Noonan syndrome
- Noonan syndrome plus other features
- Ocular coloboma
- Osteogenesis imperfecta
- Other peroxisomal disorders
- Paediatric congenital malformation-dysmorphism-tumour sydromes
- Paediatric congenital malformation-dysmorphism-tumour syndromes
- Paediatric motor neuronopathies
- Palmoplantar keratoderma and erythrokeratodermas
- Parathyroid Cancer
- Peeling skin syndrome
- Periodic fever syndromes and amyloidosis
- Peroxisomal biogenesis disorders
- Peutz-Jeghers syndrome
- PHACE(S) syndrome
- Pontine tegmental cap dysplasia
- Primary ciliary dyskinesia
- Primary immunodeficiency
- Primary lymphoedema
- Primary membranoproliferative glomerulonephritis
- Primary Microcephaly - Microcephalic Dwarfism Spectrum
- Primary Microcephaly – Microcephalic Dwarfism Spectrum
- Proteinuric renal disease
- Pulmonary arterial hypertension
- Radial dysplasia
- Rare multisystem ciliopathy disorders
- Renal tract calcification (or Nephrolithiasis/nephrocalcinosis)
- Renal tubular acidosis
- Resistance to thyroid hormone
- Rhabdomyolysis and metabolic muscle disorders
- Rhombencephalosynapsis
- Rod-cone dystrophy
- Rod Dysfunction Syndrome
- Schizophrenia plus additional features
- Severe familial anorexia
- Severe hypertriglyceridaemia
- Severe multi-system atopic disease with high IgE
- Short QT syndrome
- Significant early-onset obesity with or without other endocrine features and short stature
- Silver-Russell syndrome
- Simpson-Golabi-Behmel syndrome
- Single autosomal recessive mutation in rare disease
- Skeletal muscle channelopathies
- Sotos syndrome
- Stickler syndrome
- Structural basal ganglia disorders
- Syndromic cleft lip and or cleft palate
- Syndromic congenital heart disease
- Thoracic aortopathy
- Thoracic dystrophies
- Ultra-rare undescribed monogenic disorders
- Undiagnosed metabolic disorders
- Undiagnosed monogenic disorder seen in a specialist genetics clinic
- Undiagnosed neurocutaneous disorders
- Unexplained kidney failure in young people
- Unexplained monogenic fetal disorders
- Unexplained skeletal dysplasia
- Unexplained sudden death in the young
- VACTERL-like phenotype
- Vein of Galen malformation
- Vici syndrome and other autophagy disorders
- Weaver syndrome
- Xeroderma pigmentosum-like disorders
If you want to know how the project started just click on the link to the 100,000 Project.