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Additional findings health related
Additional findings health related - adults
Additional findings health related - adult specific
Additional findings health related - children
Additional findings health related - CNV analysis adults
Additional findings health related - CNV analysis adult specific
Additional findings health related - CNV analysis children
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
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
Cardiac arrhythmias - additional genes
Cardiomyopathies - including childhood onset
Cataracts
Catecholaminergic polymorphic VT
Cerebellar hypoplasia
Cerebral folate deficiency
Cerebral malformations
Cerebral vascular malformations
CHARGE syndrome
Childhood onset dystonia or chorea or related movement disorder
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
COVID-19 research
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
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 neuropathy NOT PMP22 copy number
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
Ichthyosis and erythrokeratoderma
Idiopathic ventricular fibrillation
Imprinted Genes
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
Mucopolysaccharideosis, Gaucher, Fabry
Multi-organ autoimmune diabetes
Multiple endocrine tumours
Multiple Epiphyseal Dysplasia
Multiple lipomas
Multiple monogenic benign skin tumours
Neonatal cholestasis
Nephrocalcinosis or nephrolithiasis
Nephrolithiasis and Nephrocalcinosis_KidGen_VCGS
Neurodegenerative disorders - adult onset
Neuroendocrine cancer pertinent cancer susceptibility
Neurofibromatosis Type 1
Neurological ciliopathies
Neurological segmental overgrowth
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
Osteopetrosis
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
Rare multisystem ciliopathy Super panel
RASopathies
Refuted genes
Renal cancer pertinent cancer susceptibility
Renal ciliopathies
Renal superpanel - broad
Renal superpanel - narrow
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
Severe Paediatric Disorders
Short QT syndrome
Silver Russell syndrome
Skeletal ciliopathies
Skeletal dysplasia
Skeletal Muscle Channelopathies
Skeletal muscle channelopathy
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
Thrombocythaemia
Thrombophilia
Thyroid cancer pertinent cancer susceptibility
Tubulointerstitial kidney disease
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
Viral resistance
White matter disorders - adult onset
White matter disorders and cerebral calcification - narrow panel
White matter disorders - childhood onset
Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome
Version
Panel Version
1.35
Gene or Genomic Entity Name
TBCE
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