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Achromatopsia
Additional findings_Paediatric
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Alagille syndrome
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Amyloidosis
Angelman Rett like syndromes
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Arrhythmogenic Cardiomyopathy
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Ataxia_Superpanel
Atrial Fibrillation
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Callosome
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Cardiac conduction disease
Cardiomyopathy_Adult_SuperPanel
Cardiomyopathy_Paediatric
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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
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Epidermolysis bullosa
Episodic Ataxia
Eye Anterior Segment Abnormalities
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Foveal Hypoplasia
Frontonasal dysplasia
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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
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Hypertension and Aldosterone disorders
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Hypertrichosis syndromes
Hypertrophic cardiomyopathy_HCM
IBMDx study
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Immunological disorders_SuperPanel
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Incidentalome
Incidentalome_PREGEN_DRAFT
Inflammatory bowel disease
Intellectual disability syndromic and non-syndromic
Interstitial Lung Disease
Joubert syndrome and other neurological ciliopathies
Kabuki syndrome
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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
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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
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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
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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 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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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
1.117
Gene or Genomic Entity Name
AFF2_FRAXE_GCC
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25 Apr 2025
Intellectual disability syndromic and non-syndromic v1.103
AFF2_FRAXE_GCC
Bryony Thompson FRAXE was changed to AFF2_FRAXE_GCC