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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
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Arrhythmia_SuperPanel
Arrhythmogenic Cardiomyopathy
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Atrial Fibrillation
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Basal Cell Cancer
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Cardiomyopathy_Adult_SuperPanel
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Cataract
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Cone-rod Dystrophy
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Corneal Dystrophy
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Deafness_IsolatedAndComplex
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Diabetes Insipidus
Diamond Blackfan anaemia
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Ectodermal Dysplasia
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Epidermolysis bullosa
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Facial papules
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Genomic newborn screening: BabyScreen+
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IBMDx study
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Immune_markers_WTS_UMCCR
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Incidentalome
Incidentalome_PREGEN_DRAFT
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Joubert syndrome and other neurological ciliopathies
Kabuki syndrome
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Kidneyome_SuperPanel
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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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Myopathy Superpanel
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Neuromuscular Superpanel
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Pharmacogenomics_Paediatric
Photosensitivity Syndromes
Pierre Robin Sequence
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Pituitary Tumour
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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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Renal Cystic Disease_SuperPanel
Renal Glomerular Disease_SuperPanel
Renal Macrocystic Disease
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Retinal Disorders Superpanel
Retinitis pigmentosa
Rhabdomyolysis and Metabolic Myopathy
Sarcoma non-soft tissue
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Schwannoma
Severe Combined Immunodeficiency
Severe early-onset obesity
Short QT syndrome
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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
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2.0
1.5025
Gene or Genomic Entity Name
CATSPERT
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05 Jun 2026
Mendeliome v2.0
CATSPERT
Gene symbol changed from C2CD6 to CATSPERT during gene set migration (ENSG00000155754 -> ENSG00000155754)