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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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Arrhythmia_SuperPanel
Arrhythmogenic Cardiomyopathy
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Bardet Biedl syndrome
Basal Cell Cancer
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Brugada syndrome
Callosome
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Cardiac conduction disease
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
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Corneal Dystrophy
Craniosynostosis
Cutis Laxa
Deafness_IsolatedAndComplex
Defects of intrinsic and innate immunity
Desmosomal disorders
Diabetes Insipidus
Diamond Blackfan anaemia
Differences of Sex Development
Diffuse Gastric Cancer
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Disorders of immune dysregulation
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
Growth failure
Haematuria_Alport
Haem degradation and bilirubin metabolism defects
Hair disorders
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Hereditary angioedema
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Hereditary Spastic Paraplegia
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Holoprosencephaly and septo-optic dysplasia
Homologous_recombination_deficiency_WTS_UMCCR
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Hydrops fetalis
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Hypertrichosis syndromes
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Hypogonadotropic hypogonadism
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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
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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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Movement Disorders Superpanel
Multiple pterygium syndrome_Fetal akinesia sequence
Muscular dystrophy and myopathy_Paediatric
Myopathy Superpanel
Neuroblastoma
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
Pancreatic Cancer
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Paraganglioma_phaeochromocytoma
Parathyroid Tumour
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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
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
1.0
0.303
Gene or Genomic Entity Name
CILK1
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07 Jun 2026
Polydactyly v1.0
CILK1
Gene symbol changed from ICK to CILK1 during gene set migration (ENSG00000112144 -> ENSG00000112144)