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Achromatopsia
Additional findings_Paediatric
Adult Cardiac SuperPanel
Alagille syndrome
Alternating Hemiplegia and Hemiplegic Migraine
Amelogenesis imperfecta
Aminoacidopathy
Amyloidosis
Angelman Rett like syndromes
Anophthalmia_Microphthalmia_Coloboma
Aortopathy_Connective Tissue Disorders
Arrhythmia_SuperPanel
Arrhythmogenic Cardiomyopathy
Arthrogryposis
Ataxia - adult onset
Ataxia - paediatric
Ataxia_Superpanel
Atrial Fibrillation
Atypical Haemolytic Uraemic Syndrome_MPGN
Auditory Neuropathy
Autism
Autoimmune Lymphoproliferative Syndrome
Autoinflammatory Disorders
Autonomic neuropathy
Bardet Biedl syndrome
Basal Cell Cancer
Bleeding and Platelet Disorders
Blepharophimosis
Bone Marrow Failure
Brain Calcification
Brain Channelopathies
Breast Cancer
Brugada syndrome
Calcium and Phosphate disorders
Callosome
Cancer Predisposition_Paediatric
Cardiac conduction disease
Cardiomyopathy_Adult_SuperPanel
Cardiomyopathy_Paediatric
Cataract
Catecholaminergic Polymorphic Ventricular Tachycardia
Central Hypoventilation
Cerebellar and Pontocerebellar Hypoplasia
Cerebral amyloid angiopathy
Cerebral Palsy
Cerebral vascular malformations
Choanal atresia
Cholestasis
Chondrodysplasia Punctata
Chromosome Breakage Disorders
Chronic granulomatous disease
Ciliary Dyskinesia
Ciliopathies
Clefting disorders
Cobblestone Malformations
Colorectal Cancer and Polyposis
Combined Immunodeficiency
Common deletion and duplication syndromes
Complement Deficiencies
Cone-rod Dystrophy
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
Congenital nystagmus
Congenital ophthalmoplegia
Congenital Stationary Night Blindness
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
Dyslipidaemia
Dystonia - complex
Dystonia - isolated/combined
Dystonia_Superpanel
Early-onset Dementia
Early-onset Parkinson disease
Ectodermal Dysplasia
Endometrial Cancer
Epidermolysis bullosa
Episodic Ataxia
Eye Anterior Segment Abnormalities
Facial papules
Familial hypercholesterolaemia
Familial hypoparathyroidism
Fatty Acid Oxidation Defects
Fetal anomalies
Foveal Hypoplasia
Frontonasal dysplasia
Gastrointestinal neuromuscular disease
Gastrointestinal Stromal Tumour
Genetic Epilepsy
Genomic newborn screening: BabyScreen+
Genomic newborn screening: ICoNS
Glaucoma congenital
Glycogen Storage Diseases
Growth failure
Haematuria_Alport
Haem degradation and bilirubin metabolism defects
Hair disorders
Hand and foot malformations
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
Hydrocephalus_Ventriculomegaly
Hydrops fetalis
Hyperammonaemia
Hypercalcaemia
Hyperinsulinism
Hypertension and Aldosterone disorders
Hyperthyroidism
Hypertrichosis syndromes
Hypertrophic cardiomyopathy_HCM
IBMDx study
Ichthyosis
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
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
Lymphoedema_nonsyndromic
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
Melanoma
Mendeliome
Meningioma
Metabolic Disorders Superpanel
Metal Metabolism Disorders
Metaphyseal dysplasias
Microcephalic Primordial Dwarfism and Slender bone dysplasias
Microcephaly
Mirror movements
Miscellaneous Metabolic Disorders
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
Oligodontia
Optic Atrophy
Osteogenesis Imperfecta and Osteoporosis
Osteopetrosis
Ovarian Cancer
Overgrowth
Pain syndromes
Palmoplantar Keratoderma and Erythrokeratoderma
Pancreatic Cancer
Pancreatitis
Paraganglioma_phaeochromocytoma
Parathyroid Tumour
Paroxysmal Dyskinesia
Periventricular Grey Matter Heterotopia
Peroxisomal Disorders
Phagocyte Defects
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
1.2511
Gene or Genomic Entity Name
CNBP_DM2_CCTG
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25 Apr 2025
Mendeliome v1.2497
CNBP_DM2_CCTG
Bryony Thompson DM2 was changed to CNBP_DM2_CCTG