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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
Anophthalmia_Microphthalmia_Coloboma
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Arrhythmia_SuperPanel
Arrhythmogenic Cardiomyopathy
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Ataxia
Atrial Fibrillation
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Autism
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Autonomic neuropathy
Bardet Biedl syndrome
Basal Cell Cancer
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Brugada syndrome
Callosome
Cancer Predisposition_Paediatric
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Cardiomyopathy_Adult_SuperPanel
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Cataract
Catecholaminergic Polymorphic Ventricular Tachycardia
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Cerebellar and Pontocerebellar Hypoplasia
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Choanal atresia
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Colorectal Cancer and Polyposis
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Cone-rod Dystrophy
Congenital adrenal hyperplasia
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Congenital diaphragmatic hernia
Congenital Diarrhoea
Congenital Disorders of Glycosylation
Congenital Heart Defect
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Congenital Myasthenia
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Congenital Stationary Night Blindness
Corneal Dystrophy
Craniosynostosis
Cutis Laxa
Deafness_IsolatedAndComplex
Defects of intrinsic and innate immunity
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Diabetes Insipidus
Diamond Blackfan anaemia
Differences of Sex Development
Diffuse Gastric Cancer
Dilated Cardiomyopathy
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Dyslipidaemia
Dystonia and Chorea
Early-onset Dementia
Early-onset Parkinson disease
Ectodermal Dysplasia
Endometrial Cancer
Epidermolysis bullosa
Eye Anterior Segment Abnormalities
Facial papules
Familial hypercholesterolaemia
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Foveal Hypoplasia
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Genomic newborn screening: BabyScreen+
Genomic newborn screening: ICoNS
Glaucoma congenital
Glycogen Storage Diseases
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Haematuria_Alport
Haem degradation and bilirubin metabolism defects
Hair disorders
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Hereditary angioedema
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Hereditary Neuropathy
Hereditary Pigmentary Disorders
Hereditary Spastic Paraplegia
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Hirschsprung disease
Holoprosencephaly and septo-optic dysplasia
Homologous_recombination_deficiency_WTS_UMCCR
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Hypertrichosis syndromes
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IBMDx study
Ichthyosis and Porokeratosis
Immune_markers_WTS_UMCCR
Immunological disorders_SuperPanel
Imprinting disorders
Incidentalome
Incidentalome_PREGEN_DRAFT
Infertility and Recurrent Pregnancy Loss
Inflammatory bowel disease
Intellectual disability syndromic and non-syndromic
Joubert syndrome and other neurological ciliopathies
Kabuki syndrome
Kidney Cancer
Kidneyome_SuperPanel
Leukodystrophy
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
Lysosomal Storage Disorder
Mackenzie's Mission_Reproductive Carrier Screening
Macrocephaly_Megalencephaly
Macular Dystrophy/Stargardt Disease
Malformations of cortical development_Superpanel
Malignant Hyperthermia Susceptibility
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Medulloblastoma
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Mendeliome
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Movement Disorders Superpanel
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
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Nucleotide metabolism disorders
Ocular and Oculocutaneous Albinism
Oligodontia
Optic Atrophy
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Ovarian Cancer
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Palmoplantar Keratoderma and Erythrokeratoderma
Pancreatic Cancer
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Paraganglioma_phaeochromocytoma
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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 nodular adrenocortical disease
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
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Regression
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
Rhabdomyolysis and Metabolic Myopathy
Sarcoma non-soft tissue
Sarcoma soft tissue
Schwannoma
Severe Combined Immunodeficiency
Severe early-onset obesity
Short QT syndrome
Skeletal Ciliopathies
Skeletal dysplasia
Skeletal Dysplasia_Fetal
Skeletal Muscle Channelopathies
Speech apraxia
Spontaneous coronary artery dissection
Stickler Syndrome
Stroke
Susceptibility to Viral Infections
Syndromic Retinopathy
Thyroid Cancer
Transplant Co-Morbidity
Tuberous Sclerosis_Focal Cortical Dysplasia_Hemimegalencephaly
Tubulinopathies
Usher Syndrome
Vascular Malformations_Germline
Vascular Malformations_Somatic
Vascular Malformations SuperPanel
Vitamin metabolism disorders
Vitreoretinopathy
Wilms Tumour
Version
Panel Version
2.0
1.5025
Gene or Genomic Entity Name
TRAPPC14
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05 Jun 2026
Mendeliome v2.0
TRAPPC14
Gene symbol changed from C7orf43 to TRAPPC14 during gene set migration (ENSG00000146826 -> ENSG00000146826)