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Achromatopsia
Additional findings_Adult
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Adrenal insufficiency
Adult Cardiac SuperPanel
Alagille syndrome
Alternating Hemiplegia and Hemiplegic Migraine
Amelogenesis imperfecta
Aminoacidopathy
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Angelman Rett like syndromes
Anophthalmia_Microphthalmia_Coloboma
Aortopathy_Connective Tissue Disorders
Arrhythmia_SuperPanel
Arrhythmogenic Cardiomyopathy
Arthrogryposis
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Atrial Fibrillation
Atypical Haemolytic Uraemic Syndrome_MPGN
Autism
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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
Cardiomyopathy_Paediatric
Cataract
Catecholaminergic Polymorphic Ventricular Tachycardia
Central Hypoventilation
Cerebellar and Pontocerebellar Hypoplasia
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Choanal atresia
Cholestasis
Chromosome Breakage Disorders
Chronic granulomatous disease
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Ciliopathies
Clefting disorders
Cobblestone Malformations
Colorectal Cancer and Polyposis
Combined Immunodeficiency
Common deletion and duplication syndromes
Complement Deficiencies
Cone-rod Dystrophy
Congenital adrenal hyperplasia
Congenital anomalies of the kidney and urinary tract (CAKUT)
Congenital diaphragmatic hernia
Congenital Diarrhoea
Congenital Disorders of Glycosylation
Congenital Heart Defect
Congenital hypothyroidism
Congenital Myasthenia
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Congenital ophthalmoplegia
Congenital Stationary Night Blindness
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
Dilated Cardiomyopathy
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
Familial hypocalciuric hypercalcaemia
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Fatty Acid Oxidation Defects
Fetal anomalies
Foveal Hypoplasia
Frontonasal dysplasia
Gastrointestinal neuromuscular disease
Gastrointestinal Stromal Tumour
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
Hereditary Pigmentary Disorders
Hereditary Spastic Paraplegia
Heterotaxy
Hirschsprung disease
Holoprosencephaly and septo-optic dysplasia
Homologous_recombination_deficiency_WTS_UMCCR
Hydrocephalus_Ventriculomegaly
Hydrops fetalis
Hyperammonaemia
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Hypertension and Aldosterone disorders
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Hypertrichosis syndromes
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Hypogonadotropic hypogonadism
Hypophosphataemia or rickets
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
Lymphoedema
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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Metabolic Disorders Superpanel
Metal Metabolism Disorders
Microcephaly
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Motor Neurone Disease
Movement Disorders Superpanel
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
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Ovarian Cancer
Overgrowth
Pain syndromes
Palmoplantar Keratoderma and Erythrokeratoderma
Pancreatic Cancer
Pancreatitis
Paraganglioma_phaeochromocytoma
Parathyroid Tumour
Paroxysmal Dyskinesia
Periventricular Grey Matter Heterotopia
Peroxisomal Disorders
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
Pulmonary Fibrosis_Interstitial Lung Disease
Radial Ray Abnormalities
Rasopathy
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Regression
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
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
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2.0
1.25
Gene or Genomic Entity Name
MTRFR
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07 Jun 2026
Mitochondrial disease v2.0
MTRFR
Gene symbol changed from C12orf65 to MTRFR during gene set migration (ENSG00000130921 -> ENSG00000130921)