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Achromatopsia
Additional findings_Adult
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Adult Cardiac SuperPanel
Alagille syndrome
Alternating Hemiplegia and Hemiplegic Migraine
Amelogenesis imperfecta
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Angelman Rett like syndromes
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Arrhythmia_SuperPanel
Arrhythmogenic Cardiomyopathy
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Ataxia_Superpanel
Atrial Fibrillation
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Auditory Neuropathy
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BabyScreen+ newborn screening
Bardet Biedl syndrome
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Callosome
Cancer Predisposition_Paediatric
Cardiomyopathy_Adult_SuperPanel
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CGC_86
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Congenital diaphragmatic hernia
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Congenital Heart Defect
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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
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Dystonia_Superpanel
Early-onset Dementia
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Ectodermal Dysplasia
Ehlers Danlos syndromes
Epidermolysis bullosa
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Hereditary Neuropathy_CMT_IsolatedAndComplex
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Hereditary Spastic Paraplegia - adult onset
Hereditary Spastic Paraplegia - paediatric
Hereditary Spastic Paraplegia Superpanel
Heterotaxy
Hirschsprung disease
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Homologous_recombination_deficiency_WTS_UMCCR
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IBMDx study
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Immune_markers_WTS_UMCCR
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
Leukodystrophy - adult onset
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Leukodystrophy_Superpanel
Limb and Digital Malformations SuperPanel
Limb-Girdle Muscular Dystrophy and Distal Myopathy
Lipodystrophy_Lipoatrophy
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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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Medulloblastoma
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Mendeliome
Metabolic Disorders Superpanel
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Multiple epiphyseal dysplasia and pseudoachondroplasia
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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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Pain syndromes
Palmoplantar Keratoderma and Erythrokeratoderma
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Phagocyte Defects
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
Red cell disorders
Regression
Renal Amyloidosis
Renal cancer
Renal Ciliopathies and Nephronophthisis
Renal Cystic Disease_SuperPanel
Renal Glomerular Disease_SuperPanel
Renal Macrocystic Disease
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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
BLM
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07 Jan 2020
NCGC v0.0
BLM
Lavinia Gordon gene: BLM was added
gene: BLM was added to NCGC. Sources: NCGC
Mode of inheritance for gene: BLM was set to Other
Phenotypes for gene: BLM were set to Bloom syndrome