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Achromatopsia
Additional findings_Adult
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Alagille syndrome
Alternating Hemiplegia and Hemiplegic Migraine
Amelogenesis imperfecta
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Arrhythmia_SuperPanel
Arrhythmogenic Cardiomyopathy
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Bardet Biedl syndrome
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Cataract
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Choanal atresia
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Corneal Dystrophy
Craniosynostosis
Cutis Laxa
Deafness_IsolatedAndComplex
Defects of intrinsic and innate immunity
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Diabetes Insipidus
Diamond Blackfan anaemia
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Diffuse Gastric Cancer
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Dyslipidaemia
Dystonia and Chorea
Early-onset Dementia
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Ectodermal Dysplasia
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Epidermolysis bullosa
Eye Anterior Segment Abnormalities
Facial papules
Familial hypercholesterolaemia
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Genomic newborn screening: BabyScreen+
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Glaucoma congenital
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Haematuria_Alport
Haem degradation and bilirubin metabolism defects
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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
Imprinting disorders
Incidentalome
Incidentalome_PREGEN_DRAFT
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Joubert syndrome and other neurological ciliopathies
Kabuki syndrome
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Kidneyome_SuperPanel
Leukodystrophy
Limb and Digital Malformations SuperPanel
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Lipodystrophy_Lipoatrophy
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Liver Failure_Paediatric
Liverome Superpanel
Long QT Syndrome
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Mackenzie's Mission_Reproductive Carrier Screening
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Multiple pterygium syndrome_Fetal akinesia sequence
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Myopathy Superpanel
Neuroblastoma
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Palmoplantar Keratoderma and Erythrokeratoderma
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Periventricular Grey Matter Heterotopia
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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
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Radial Ray Abnormalities
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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
2.10
1.5025
Gene or Genomic Entity Name
TENT5A
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07 Jun 2026
Mendeliome v2.0
TENT5A
Gene symbol changed from FAM46A to TENT5A during gene set migration (ENSG00000112773 -> ENSG00000112773)