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Achromatopsia
Additional findings_Paediatric
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Alagille syndrome
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Ataxia_Superpanel
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Congenital Heart Defect
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Deafness_IsolatedAndComplex
Defects of intrinsic and innate immunity
Desmosomal disorders
Diabetes Insipidus
Diamond Blackfan anaemia
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Diffuse Gastric Cancer
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Dyslipidaemia
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Dystonia_Superpanel
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Hereditary Neuropathy_CMT_IsolatedAndComplex
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Hereditary Spastic Paraplegia Superpanel
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IBMDx study
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Incidentalome_PREGEN_DRAFT
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Kidneyome_SuperPanel
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Leukodystrophy_Superpanel
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Liverome Superpanel
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Lysosomal Storage Disorder
Mackenzie's Mission_Reproductive Carrier Screening
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Malformations of cortical development_Superpanel
Malignant Hyperthermia Susceptibility
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Maturity-onset Diabetes of the Young
Medulloblastoma
Melanoma
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Metabolic Disorders Superpanel
Metal Metabolism Disorders
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Microcephalic Primordial Dwarfism and Slender bone dysplasias
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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
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Neuromuscular Superpanel
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Nucleotide metabolism disorders
Ocular and Oculocutaneous Albinism
Oligodontia
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Osteogenesis Imperfecta and Osteoporosis
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Ovarian Cancer
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Pain syndromes
Palmoplantar Keratoderma and Erythrokeratoderma
Pancreatic Cancer
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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
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Radial Ray Abnormalities
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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
0.256
Gene or Genomic Entity Name
NUTM2B-AS1_OPDM_CCG
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25 Apr 2025
Repeat Disorders v0.254
NUTM2B-AS1_OPDM_CCG
Bryony Thompson NUTM2B-AS1_OPML1_CCG was changed to NUTM2B-AS1_OPDM_CCG