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Achromatopsia
Additional findings_Paediatric
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Alagille syndrome
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Congenital Heart Defect
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Congenital Myasthenia
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Cutis Laxa
Deafness_Isolated
Deafness_IsolatedAndComplex
Defects of intrinsic and innate immunity
Desmosomal disorders
Diabetes Insipidus
Diamond Blackfan anaemia
Differences of Sex Development
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Dystonia_Superpanel
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Glaucoma congenital
Glycogen Storage Diseases
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Haem degradation and bilirubin metabolism defects
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Hereditary Neuropathy_CMT_IsolatedAndComplex
Hereditary Neuropathy - complex
Hereditary Spastic Paraplegia - adult onset
Hereditary Spastic Paraplegia - paediatric
Hereditary Spastic Paraplegia Superpanel
Heterotaxy
Hirschsprung disease
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IBMDx study
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Incidentalome_PREGEN_DRAFT
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Kidneyome_SuperPanel
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Leukodystrophy_Superpanel
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Liverome Superpanel
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Lysosomal Storage Disorder
Mackenzie's Mission_Reproductive Carrier Screening
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Malignant Hyperthermia Susceptibility
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Maturity-onset Diabetes of the Young
Medulloblastoma
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Metal Metabolism Disorders
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Multiple epiphyseal dysplasia and pseudoachondroplasia
Multiple joint dislocations and laxity
Multiple pterygium syndrome_Fetal akinesia sequence
Muscular dystrophy and myopathy_Paediatric
Myopathy Superpanel
Neuroblastoma
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Pierre Robin Sequence
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Prepair 1000+
Prepair 500+
Primary Ovarian Insufficiency_Premature Ovarian Failure
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Progressive Neurological Conditions
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Proteinuria
Pseudohypoparathyroidism and Albright Hereditary Osteodystrophy
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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
1.46
Gene or Genomic Entity Name
PPP2R2B_SCA12_CAG
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27 Apr 2025
Ataxia - adult onset v1.42
PPP2R2B_SCA12_CAG
Bryony Thompson SCA12 was changed to PPP2R2B_SCA12_CAG