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Achromatopsia
Additional findings_Paediatric
Adult Cardiac SuperPanel
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
Cataract
Catecholaminergic Polymorphic Ventricular Tachycardia
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Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic
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Congenital Heart Defect
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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
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Dystonia_Superpanel
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Genomic newborn screening: BabyScreen+
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Glaucoma congenital
Glycogen Storage Diseases
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Haem degradation and bilirubin metabolism defects
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Hereditary Neuropathy_CMT_IsolatedAndComplex
Hereditary Neuropathy - complex
Hereditary Pigmentary Disorders
Hereditary Spastic Paraplegia - adult onset
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Hereditary Spastic Paraplegia Superpanel
Heterotaxy
Hirschsprung disease
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Hydrops fetalis
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IBMDx study
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Incidentalome
Incidentalome_PREGEN_DRAFT
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Intellectual disability syndromic and non-syndromic
Interstitial Lung Disease
Joubert syndrome and other neurological ciliopathies
Kabuki syndrome
Kidney Cancer
Kidneyome_SuperPanel
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Leukodystrophy_Superpanel
Limb and Digital Malformations SuperPanel
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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
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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
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Mirror movements
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Mitochondrial disease
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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
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Optic Atrophy
Osteogenesis Imperfecta and Osteoporosis
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Ovarian Cancer
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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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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
Red cell disorders
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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 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
0.264
Gene or Genomic Entity Name
DIP2B_FRA12A_CGG
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17 May 2025
Repeat Disorders v0.257
DIP2B_FRA12A_CGG
Bryony Thompson Publications for STR: DIP2B_FRA12A_CGG were set to 17236128
25 Apr 2025
Repeat Disorders v0.241
DIP2B_FRA12A_CGG
Bryony Thompson FRA12A was changed to DIP2B_FRA12A_CGG