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Achromatopsia
Additional findings_Adult
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Adult Cardiac SuperPanel
Alagille syndrome
Alternating Hemiplegia and Hemiplegic Migraine
Amelogenesis imperfecta
Aminoacidopathy
Angelman Rett like syndromes
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Aortopathy_Connective Tissue Disorders
Arrhythmia_SuperPanel
Arrhythmogenic Cardiomyopathy
Arthrogryposis
Ataxia - adult onset
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Ataxia_Superpanel
Atrial Fibrillation
Atypical Haemolytic Uraemic Syndrome_MPGN
Auditory Neuropathy
Autism
Autonomic neuropathy
BabyScreen+ newborn screening
Bardet Biedl syndrome
Bleeding and Platelet Disorders
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Calcium and Phosphate disorders
Callosome
Cancer Predisposition_Paediatric
Cardiomyopathy_Adult_SuperPanel
Cardiomyopathy_Paediatric
Cataract
Catecholaminergic Polymorphic Ventricular Tachycardia
Central Hypoventilation
Cerebellar and Pontocerebellar Hypoplasia
Cerebral amyloid angiopathy
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CGC_86
Choanal atresia
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Chromosome Breakage Disorders
Chronic granulomatous disease
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Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic
Congenital diaphragmatic hernia
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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 innate immunity
Desmosomal disorders
Diabetes Insipidus
Diamond Blackfan anaemia
Differences of Sex Development
Dilated Cardiomyopathy
Disorders of immune dysregulation
Dyslipidaemia
Dystonia - complex
Dystonia - isolated/combined
Dystonia_Superpanel
Early-onset Dementia
Early-onset Parkinson disease
Ectodermal Dysplasia
Ehlers Danlos syndromes
Epidermolysis bullosa
Episodic Ataxia
Eye Anterior Segment Abnormalities
Facial papules
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Hair disorders
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Hereditary angioedema
Hereditary Haemorrhagic Telangiectasia
Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy_CMT_IsolatedAndComplex
Hereditary Neuropathy - complex
Hereditary Spastic Paraplegia - adult onset
Hereditary Spastic Paraplegia - paediatric
Hereditary Spastic Paraplegia Superpanel
Heterotaxy
Hirschsprung disease
Holoprosencephaly and septo-optic dysplasia
Homologous_recombination_deficiency_WTS_UMCCR
Hydrocephalus_Ventriculomegaly
Hydrops fetalis
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Hyper-IgE syndrome
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Hypertension and Aldosterone disorders
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Hypertrichosis syndromes
Hypertrophic cardiomyopathy_HCM
IBMDx study
Ichthyosis
Immune_markers_WTS_UMCCR
Immunological disorders_SuperPanel
Imprinting disorders
Incidentalome
Incidentalome_PREGEN_DRAFT
Inflammatory bowel disease
Intellectual disability syndromic and non-syndromic
Interstitial Lung Disease
Joubert syndrome and other neurological ciliopathies
Kabuki syndrome
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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Lymphoedema_syndromic
Lysosomal Storage Disorder
Mackenzie's Mission_Reproductive Carrier Screening
Macrocephaly_Megalencephaly
Macular Dystrophy/Stargardt Disease
Malformations of cortical development_Superpanel
Malignant Hyperthermia Susceptibility
Mandibulofacial Acrofacial dysostosis
Maturity-onset Diabetes of the Young
Medulloblastoma
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Mendeliome
Metabolic Disorders Superpanel
Metal Metabolism Disorders
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Microcephalic Primordial Dwarfism and Slender bone dysplasias
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Mirror movements
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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
NCGC
Neurodegeneration with brain iron accumulation
Neurodegenerative disease - adult onset
Neuromuscular Superpanel
Neurotransmitter Defects
Nucleotide metabolism disorders
Ocular and Oculocutaneous Albinism
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Optic Atrophy
Osteogenesis Imperfecta and Osteoporosis
Osteopetrosis
Overgrowth
Pain syndromes
Palmoplantar Keratoderma and Erythrokeratoderma
Pancreatitis
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Periventricular Grey Matter Heterotopia
Peroxisomal Disorders
Phagocyte Defects
Pharmacogenomics_Paediatric
Photosensitivity Syndromes
Pierre Robin Sequence
Pituitary hormone deficiency
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
Proteinuria
Pseudohypoparathyroidism and Albright Hereditary Osteodystrophy
Pulmonary Arterial Hypertension
Pulmonary Fibrosis_Interstitial Lung Disease
Radial Ray Abnormalities
Rasopathy
Red cell disorders
Regression
Renal Amyloidosis
Renal cancer
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
Schwannomatosis
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
Sick sinus syndrome
Skeletal dysplasia
Skeletal Dysplasia_Fetal
Skeletal Muscle Channelopathies
Speech apraxia
Spondylocostal Dysostosis
Stickler Syndrome
Stroke
Susceptibility to Fungal Infections
Susceptibility to Viral Infections
Syndromic Retinopathy
Systemic Autoinflammatory Disease_Periodic Fever
TCGA_PANCAN_2018
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 Predisposition
Version
Panel Version
0.2
Gene or Genomic Entity Name
ACD
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07 Jan 2020
NCGC v0.0
ACD
Lavinia Gordon gene: ACD was added
gene: ACD was added to NCGC. Sources: NCGC
Mode of inheritance for gene: ACD was set to Other
Phenotypes for gene: ACD were set to NA