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Panel Panel Additional findings health related Additional findings reproductive carrier status Adult onset movement disorder Adult solid tumours cancer susceptibility Adult solid tumours for rare disease Albinism or congenital nystagmus Amelogenesis imperfecta Amyloidosis Amyotrophic lateral sclerosis/motor neuron disease Aniridia Anophthalmia or microphthalmia Arrhythmogenic cardiomyopathy Arthrogryposis Arthrogryposis - broad panel Ataxia and cerebellar anomalies - narrow panel Atypical haemolytic uraemic syndrome Auditory Neuropathy Spectrum Disorder Autism Autosomal recessive congenital ichthyosis Autosomal recessive primary hypertrophic osteoarthropathy Bardet Biedl syndrome Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders Bladder cancer pertinent cancer susceptibility Bleeding and platelet disorders Brain cancer pertinent cancer susceptibility Brain channelopathy Breast cancer pertinent cancer susceptibility Brugada syndrome CAKUT Cardiac arrhythmias Cardiomyopathies - including childhood onset Cataracts Catecholaminergic polymorphic VT Cerebellar hypoplasia Cerebral folate deficiency Cerebral malformations Cerebral vascular malformations CHARGE syndrome Childhood solid tumours cancer susceptibility Choanal atresia Cholestasis Chondrodysplasia punctata Classical tuberous sclerosis Clefting ClinGen_Familial thoracic aortic aneurysm and aortic dissection ClinGen Gene Validity Curations Colorectal cancer pertinent cancer susceptibility Combined factor V and VIII deficiency Common craniosynostosis syndromes Confirmed Fanconi anaemia or Bloom syndrome Congenital adrenal hypoplasia Congenital disorders of glycosylation Congenital fibrosis of the extraocular muscles Congenital hyperinsulinism Congenital hypothyroidism Congenital muscular dystrophy Congenital myaesthenic syndrome Congenital myopathy Corneal abnormalities Corneal dystrophies Craniosynostosis Currarino triad Cutaneous photosensitivity with a likely genetic cause Cystic kidney disease Cystic renal disease Cytopenia - NOT Fanconi anaemia Cytopenias and congenital anaemias DDG2P Deafness and congenital structural abnormalities Diabetes - neonatal onset Diabetes with additional phenotypes suggestive of a monogenic aetiology Dilated cardiomyopathy - adult and teen Dilated Cardiomyopathy and conduction defects Disorders of sex development Distal myopathies Ductal plate malformation Dystonia - childhood onset Early onset dementia (encompassing fronto-temporal dementia and prion disease) Early onset dystonia Ectodermal dysplasia Ectodermal dysplasia without a known gene mutation Ehlers Danlos syndromes Endocrine neoplasms Endometrial cancer pertinent cancer susceptibility Epidermodysplasia verruciformis Epidermolysis bullosa Epidermolysis bullosa and congenital skin fragility Erythropoietic protoporphyria, mild variant Extreme early-onset hypertension Familial breast cancer Familial cerebral small vessel disease Familial cicatricial alopecia Familial diabetes Familial disseminated superficial actinic porokeratosis Familial dysautonomia Familial hidradenitis suppurativa Familial Hirschsprung Disease Familial hypercholesterolaemia Familial hypercholesterolaemia - targeted panel Familial hyperparathyroidism Familial hypoparathyroidism Familial melanoma Familial Meniere Disease Familial Neural Tube Defects Familial non syndromic congenital heart disease Familial prostate cancer Familial pulmonary fibrosis Familial rhabdomyosarcoma Familial tumoral calcinosis Familial Tumours Syndromes of the central & peripheral Nervous system Fetal anomalies Fetal hydrops Gastrointestinal epithelial barrier disorders Gastrointestinal neuromuscular disorders Generalised pustular psoriasis Gene therapy clinical trials Genetic epilepsy syndromes Genodermatoses with malignancies GI tract tumours Glaucoma (developmental) Glycogen storage disease Groopman et al 2019 - Genes with diagnostic variants Growth failure in early childhood Haematological malignancies cancer susceptibility Haematological malignancies for rare disease Haematuria Head and neck cancer pertinent cancer susceptibility Hearing loss Hereditary ataxia Hereditary ataxia - adult onset Hereditary ataxia and cerebellar anomalies - childhood onset Hereditary Erythrocytosis Hereditary haemorrhagic telangiectasia Hereditary neuropathy Hereditary spastic paraplegia Hereditary spastic paraplegia - adult onset Hereditary spastic paraplegia - childhood onset Holoprosencephaly Hydroa vacciniforme Hydrocephalus Hyperammonaemia Hyperthyroidism Hypertrophic cardiomyopathy - teen and adult Hypocalciuric hypercalcaemia Hypogonadotropic hypogonadism Hypogonadotropic hypogonadism idiopathic Hypophosphataemia or rickets Hypotonic infant with a likely central cause Ichthyosis and erythrokeratoderma Idiopathic ventricular fibrillation Inborn errors of metabolism Infantile enterocolitis & monogenic inflammatory bowel disease Infantile nystagmus Inherited bleeding disorders Inherited MMR deficiency (Lynch syndrome) Inherited non-medullary thyroid cancer Inherited ovarian cancer (without breast cancer) Inherited pancreatic cancer Inherited phaeochromocytoma and paraganglioma Inherited phaeochromocytoma and paraganglioma excluding NF1 Inherited polyposis Inherited predisposition to acute myeloid leukaemia (AML) Inherited predisposition to GIST Inherited renal cancer Inherited white matter disorders Insulin resistance (including lipodystrophy) Intellectual disability Intestinal failure Intracerebral calcification disorders Iron metabolism disorders IUGR and IGF abnormalities Juvenile dermatomyositis Kabuki syndrome Ketotic hypoglycaemia Kleine-Levin syndrome Laterality disorders and isomerism Leber hereditary optic neuropathy Left Ventricular Noncompaction Cardiomyopathy Limb disorders Limb girdle muscular dystrophy Lipodystrophy - childhood onset Lipoprotein lipase deficiency Long QT syndrome Lung cancer pertinent cancer susceptibility Lysosomal storage disorder Malformations of cortical development Melanoma pertinent cancer susceptibility Membranoproliferative glomerulonephritis Mitochondrial disorders Mitochondrial disorder with complex I deficiency Mitochondrial disorder with complex II deficiency Mitochondrial disorder with complex III deficiency Mitochondrial disorder with complex IV deficiency Mitochondrial disorder with complex V deficiency Mitochondrial DNA maintenance disorder Mitochondrial liver disease Monogenic diabetes Monogenic nephrogenic diabetes insipidus Mosaic skin disorders - deep sequencing Movement disorders - childhood onset Mucopolysaccharideosis, Gaucher, Fabry Multi-organ autoimmune diabetes Multiple endocrine tumours Multiple Epiphyseal Dysplasia Multiple lipomas Multiple monogenic benign skin tumours Myotonia congenita Neonatal cholestasis Neonatal erythroderma Nephrocalcinosis or nephrolithiasis Neurodegenerative disorders - adult onset Neuroendocrine cancer pertinent cancer susceptibility Neurofibromatosis Type 1 Neurological ciliopathies Neurological segmental overgrowth Neuromuscular arthrogryposis Neuromuscular disorders Neuronal ceroid lipofuscinosis Neurotransmitter disorders Non-acute porphyrias Non-CF bronchiectasis Non-syndromic familial congenital anorectal malformations Non-syndromic hypotrichosis Ocular and oculo-cutaneous albinism Ocular coloboma Ophthalmological ciliopathies Optic neuropathy Osteogenesis imperfecta Ovarian cancer pertinent cancer susceptibility Paediatric disorders Paediatric disorders - additional genes Paediatric motor neuronopathies Pain syndromes Palmoplantar keratoderma and erythrokeratodermas Palmoplantar keratodermas Pancreatitis Parathyroid Cancer Parkinson Disease and Complex Parkinsonism Paroxysmal central nervous system disorders Peeling skin syndrome Periodic fever syndromes Peroxisomal disorders PHACE(S) syndrome Pigmentary skin disorders Pituitary hormone deficiency Pityriasis rubra pilaris Pneumothorax - familial Polycystic liver disease interim Possible mitochondrial disorder - nuclear genes Primary ciliary disorders Primary immunodeficiency Primary lymphoedema Primary ovarian insufficiency Primary pigmented nodular adrenocortical disease Progressive cardiac conduction disease Prostate cancer pertinent cancer susceptibility Proteinuric renal disease Pulmonary arterial hypertension Pyruvate dehydrogenase (PDH) deficiency Radial dysplasia Rare anaemia Rare genetic inflammatory skin disorders Rare multisystem ciliopathy disorders RASopathies Refuted genes Renal and urinary tract disorders Renal cancer pertinent cancer susceptibility Renal ciliopathies Renal tubulopathies Respiratory ciliopathies including non-CF bronchiectasis Retinal disorders Rhabdoid tumour predisposition Rhabdomyolysis and metabolic muscle disorders Sarcoma cancer susceptibility Sarcoma susceptibility Segmental overgrowth disorders Severe early-onset obesity Severe familial anorexia Severe hypertriglyceridaemia Severe microcephaly Severe multi-system atopic disease with high IgE Short QT syndrome Silver Russell syndrome Skeletal ciliopathies Skeletal dysplasia Skeletal Muscle Channelopathies Stickler syndrome Structural basal ganglia disorders Structural eye disease Sudden cardiac death Sudden death in young people Surfactant deficiency Testicular cancer pertinent cancer susceptibility Thoracic aortic aneurysm and dissection Thoracic aortic aneurysm or dissection Thoracic dystrophies Thrombophilia Thyroid cancer pertinent cancer susceptibility Tubulointerstitial kidney disease Tumour predisposition - adult onset Tumour predisposition - childhood onset Ultra-rare undescribed monogenic disorders Undiagnosed metabolic disorders Undiagnosed monogenic disorder seen in a specialist genetics clinic Unexplained kidney failure in young people Unexplained paediatric onset end-stage renal disease Upper gastrointestinal cancer pertinent cancer susceptibility VACTERL-like phenotypes Vascular skin disorders Vici Syndrome and other autophagy disorders White matter disorders - adult onset White matter disorders and cerebral calcification - narrow panel White matter disorders - childhood onset Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome

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