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100,000 Genomes Project Recruited Disorders List

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Dilated Cardiomyopathy and conduction defects

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Connective Tissues Disorders and Aortopathies

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Familial Thoracic Aortic Aneurysm Disease

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Congenital malformations caused by ciliopathies

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Severe multi-system atopic disease with high IgE

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Ectodermal dysplasia without a known gene mutation

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Dysmorphic and congenital abnormality syndromes

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Vici Syndrome and other autophagy disorders

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Balanced translocations with an unusual phenotype

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Primary Microcephaly - Microcephalic Dwarfism Spectrum

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Coarse facial features including Coffin-Siris-like disorders

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Familial non-syndromic cleft lip and or familial cleft palate

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Early onset familial premature ovarian insufficiency

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Significant early-onset obesity with or without other endocrine features and short stature

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Diabetes with additional phenotypes suggestive of a monogenic aetiology

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Early onset or familial intestinal pseudo obstruction

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Infantile enterocolitis and monogenic inflammatory bowel disease

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GMS R59 Early onset or syndromic epilepsy

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GMS R69 Floppy infant with a likely central cause

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Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders

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Inherited bleeding and or platelet disorders

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Deafness and congenital structural abnormalities

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Ear malformations with hearing impairment

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Genetic Epilepsies with Febrile Seizures Plus

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Amyotrophic lateral sclerosis or motor neuron disease

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Early onset and familial Parkinson's Disease

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Rhabdomyolysis and metabolic muscle disorders

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Kleine-Levin syndrome and other inherited sleep disorders

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Developmental macular and foveal dystrophy

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Leber Congenital Amaurosis or Early-Onset Severe Retinal Dystrophy

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Schizophrenia and other psychotic disorders

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Renal tract calcification (or Nephrolithiasis or nephrocalcinosis)

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Unexplained kidney failure in young people

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Structural renal and urinary tract disease

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Congenital Anomaly of the Kidneys and Urinary Tract (CAKUT)

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Syndromes with prominent renal abnormalities

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Familial IgA nephropathy and IgA vasculitis

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Familial and multiple pulmonary arteriovenous malformations

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Periodic fever syndromes and amyloidosis

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Familial tumour syndromes of the central and peripheral nervous system

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Neonatal or paediatric intensive care admission with a likely monogenic disease

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Single autosomal recessive mutation in rare disease

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Undiagnosed monogenic disorder seen in a specialist genetics clinic