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Achromatopsia
Additional findings_Adult
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Alagille syndrome
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Angelman Rett like syndromes
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BabyScreen+ newborn screening
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Differences of Sex Development
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Dystonia_Superpanel
Early-onset Dementia
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Hereditary Spastic Paraplegia Superpanel
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IBMDx study
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Immunological disorders_SuperPanel
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Incidentalome
Incidentalome_PREGEN_DRAFT
Inflammatory bowel disease
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Interstitial Lung Disease
Joubert syndrome and other neurological ciliopathies
Kabuki syndrome
Kidneyome_SuperPanel
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Leukodystrophy_Superpanel
Limb and Digital Malformations SuperPanel
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Lipodystrophy_Lipoatrophy
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Liverome Superpanel
Long QT Syndrome
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Mackenzie's Mission_Reproductive Carrier Screening
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Malignant Hyperthermia Susceptibility
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Metabolic Disorders Superpanel
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Multiple pterygium syndrome_Fetal akinesia sequence
Muscular dystrophy and myopathy_Paediatric
Myopathy Superpanel
NCGC
Neurodegeneration with brain iron accumulation
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Neuromuscular Superpanel
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Ocular and Oculocutaneous Albinism
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Palmoplantar Keratoderma and Erythrokeratoderma
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Pharmacogenomics_Paediatric
Photosensitivity Syndromes
Pierre Robin Sequence
Pituitary hormone deficiency
Pneumothorax
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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
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Regression
Renal Amyloidosis
Renal cancer
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Renal Cystic Disease_SuperPanel
Renal Glomerular Disease_SuperPanel
Renal Macrocystic Disease
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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
0.198
Gene or Genomic Entity Name
ADSL
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17 Nov 2019
Autism v0.0
ADSL
Zornitza Stark gene: ADSL was added
gene: ADSL was added to Autism_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ADSL was set to Unknown