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Achromatopsia
Additional findings_Paediatric
Adult Cardiac SuperPanel
Alagille syndrome
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Arrhythmogenic Cardiomyopathy
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Ataxia_Superpanel
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Callosome
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Cardiac conduction disease
Cardiomyopathy_Adult_SuperPanel
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Cataract
Catecholaminergic Polymorphic Ventricular Tachycardia
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Choanal atresia
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Congenital abnormalities of the kidneys and urinary tract (CAKUT)_SuperPanel
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic
Congenital diaphragmatic hernia
Congenital Diarrhoea
Congenital Disorders of Glycosylation
Congenital Heart Defect
Congenital hypothyroidism
Congenital Myasthenia
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Corneal Dystrophy
Craniosynostosis
Cutis Laxa
Deafness_Isolated
Deafness_IsolatedAndComplex
Defects of intrinsic and innate immunity
Desmosomal disorders
Diabetes Insipidus
Diamond Blackfan anaemia
Differences of Sex Development
Diffuse Gastric Cancer
Dilated Cardiomyopathy
Disorders of immune dysregulation
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Dystonia_Superpanel
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Ectodermal Dysplasia
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Epidermolysis bullosa
Episodic Ataxia
Eye Anterior Segment Abnormalities
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Frontonasal dysplasia
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Genomic newborn screening: BabyScreen+
Genomic newborn screening: ICoNS
Glaucoma congenital
Glycogen Storage Diseases
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Haem degradation and bilirubin metabolism defects
Hair disorders
Hand and foot malformations
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Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy_CMT_IsolatedAndComplex
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Hereditary Spastic Paraplegia - adult onset
Hereditary Spastic Paraplegia - paediatric
Hereditary Spastic Paraplegia Superpanel
Heterotaxy
Hirschsprung disease
Holoprosencephaly and septo-optic dysplasia
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IBMDx study
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Incidentalome_PREGEN_DRAFT
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Interstitial Lung Disease
Joubert syndrome and other neurological ciliopathies
Kabuki syndrome
Kidney Cancer
Kidneyome_SuperPanel
Leukodystrophy - adult onset
Leukodystrophy - paediatric
Leukodystrophy_Superpanel
Limb and Digital Malformations SuperPanel
Limb-Girdle Muscular Dystrophy and Distal Myopathy
Lipodystrophy_Lipoatrophy
Lissencephaly and Band Heterotopia
Liver Failure_Paediatric
Liverome Superpanel
Long QT Syndrome
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Lysosomal Storage Disorder
Mackenzie's Mission_Reproductive Carrier Screening
Macrocephaly_Megalencephaly
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Malformations of cortical development_Superpanel
Malignant Hyperthermia Susceptibility
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Maturity-onset Diabetes of the Young
Medulloblastoma
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Metabolic Disorders Superpanel
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Microcephalic Primordial Dwarfism and Slender bone dysplasias
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Mirror movements
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Mitochondrial disease
Monogenic Diabetes
Mosaic skin disorders
Motor Neurone Disease
Multiple epiphyseal dysplasia and pseudoachondroplasia
Multiple joint dislocations and laxity
Multiple pterygium syndrome_Fetal akinesia sequence
Muscular dystrophy and myopathy_Paediatric
Myopathy Superpanel
Neuroblastoma
Neurodegeneration with brain iron accumulation
Neurodegenerative disease - adult onset
Neuromuscular Superpanel
Neurotransmitter Defects
Nucleotide metabolism disorders
Ocular and Oculocutaneous Albinism
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Osteogenesis Imperfecta and Osteoporosis
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Ovarian Cancer
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Pain syndromes
Palmoplantar Keratoderma and Erythrokeratoderma
Pancreatic Cancer
Pancreatitis
Paraganglioma_phaeochromocytoma
Parathyroid Tumour
Paroxysmal Dyskinesia
Periventricular Grey Matter Heterotopia
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Pharmacogenomics_Paediatric
Photosensitivity Syndromes
Pierre Robin Sequence
Pituitary hormone deficiency
Pituitary Tumour
Pneumothorax
Polycystic liver disease
Polydactyly
Polymicrogyria and Schizencephaly
Predominantly Antibody Deficiency
Prepair 1000+
Prepair 500+
Primary Ovarian Insufficiency_Premature Ovarian Failure
Progressive Myoclonic Epilepsy
Progressive Neurological Conditions
Prostate Cancer
Proteinuria
Pseudohypoparathyroidism and Albright Hereditary Osteodystrophy
Pulmonary Arterial Hypertension
Pulmonary Fibrosis_Interstitial Lung Disease
Radial Ray Abnormalities
Rasopathy
Red cell disorders
Regression
Renal Ciliopathies and Nephronophthisis
Renal Cystic Disease_SuperPanel
Renal Glomerular Disease_SuperPanel
Renal Macrocystic Disease
Renal Tubulointerstitial Disease
Renal Tubulopathies and related disorders
Repeat Disorders
Retinal Disorders Superpanel
Retinitis pigmentosa_Autosomal Dominant
Retinitis pigmentosa_Autosomal Recessive/X-linked
Retinitis Pigmentosa Superpanel
Rhabdomyolysis and Metabolic Myopathy
Sarcoma non-soft tissue
Sarcoma soft tissue
Schwannoma
Severe Combined Immunodeficiency (absent T absent B cells)
Severe Combined Immunodeficiency (absent T present B cells)
Severe early-onset obesity
Short Long Bones with Advanced Carpal Bone Age
Short QT syndrome
Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy
Skeletal dysplasia
Skeletal Dysplasia_Fetal
Skeletal Muscle Channelopathies
Speech apraxia
Spondylocostal Dysostosis
Spontaneous coronary artery dissection
Stickler Syndrome
Stroke
Susceptibility to Fungal Infections
Susceptibility to Viral Infections
Syndromic Retinopathy
Thyroid Cancer
Transplant Co-Morbidity Superpanel
Tremors_Superpanel
Tuberous Sclerosis_Focal Cortical Dysplasia_Hemimegalencephaly
Tubulinopathies
Usher Syndrome
Vascular Malformations_Germline
Vascular Malformations_Somatic
Vascular Malformations SuperPanel
Vasculitis
Ventricular Fibrillation
Vitamin metabolism disorders
Vitreoretinopathy
Wilms Tumour
Version
Panel Version
0.309
Gene or Genomic Entity Name
TSC1
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17 Dec 2019
Skeletal dysplasia v0.0
TSC1
Zornitza Stark gene: TSC1 was added
gene: TSC1 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory
Mode of inheritance for gene: TSC1 was set to