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Achromatopsia
Achromatopsia
Additional findings_Adult
Additional findings_Adult
Additional findings_Paediatric
Additional findings_Paediatric
Adult Cardiac SuperPanel
Alagille syndrome
Alagille syndrome
Alternating Hemiplegia and Hemiplegic Migraine
Alternating Hemiplegia and Hemiplegic Migraine
Amelogenesis imperfecta
Amelogenesis imperfecta
Aminoacidopathy
Aminoacidopathy
Renal Amyloidosis
Renal Amyloidosis
Angelman Rett like syndromes
Angelman Rett like syndromes
Anophthalmia_Microphthalmia_Coloboma
Anophthalmia_Microphthalmia_Coloboma
Aortopathy_Connective Tissue Disorders
Aortopathy_Connective Tissue Disorders
Arrhythmia_SuperPanel
Arrhythmogenic Cardiomyopathy
Arrhythmogenic Cardiomyopathy
Arthrogryposis
Arthrogryposis
Ataxia - paediatric
Ataxia - paediatric
Ataxia - adult onset
Ataxia - adult onset
Ataxia_Superpanel
Atrial Fibrillation
Atrial Fibrillation
Atypical Haemolytic Uraemic Syndrome_MPGN
Atypical Haemolytic Uraemic Syndrome_MPGN
Auditory Neuropathy
Auditory Neuropathy
Autism
Autism
Systemic Autoinflammatory Disease_Periodic Fever
Systemic Autoinflammatory Disease_Periodic Fever
Autonomic neuropathy
Autonomic neuropathy
Bardet Biedl syndrome
Bardet Biedl syndrome
Bleeding and Platelet Disorders
Bleeding and Platelet Disorders
Blepharophimosis
Blepharophimosis
Bone Marrow Failure
Bone Marrow Failure
Brain Calcification
Brain Calcification
Brain Channelopathies
Brain Channelopathies
Brugada syndrome
Brugada syndrome
Calcium and Phosphate disorders
Calcium and Phosphate disorders
Callosome
Callosome
Cancer Predisposition_Paediatric
Cancer Predisposition_Paediatric
Cardiomyopathy_Adult_SuperPanel
Cardiomyopathy_Paediatric
Cardiomyopathy_Paediatric
Cataract
Cataract
Catecholaminergic Polymorphic Ventricular Tachycardia
Catecholaminergic Polymorphic Ventricular Tachycardia
Central Hypoventilation
Central Hypoventilation
Cerebellar and Pontocerebellar Hypoplasia
Cerebellar and Pontocerebellar Hypoplasia
Cerebral amyloid angiopathy
Cerebral amyloid angiopathy
Cerebral Palsy
Cerebral Palsy
Cerebral vascular malformations
Cerebral vascular malformations
CGC_86
CGC_86
Choanal atresia
Choanal atresia
Cholestasis
Cholestasis
Chondrodysplasia Punctata
Chondrodysplasia Punctata
Chromosome Breakage Disorders
Chromosome Breakage Disorders
Chronic granulomatous disease
Chronic granulomatous disease
Ciliary Dyskinesia
Ciliary Dyskinesia
Ciliopathies
Ciliopathies
Clefting disorders
Clefting disorders
Cobblestone Malformations
Cobblestone Malformations
Cobblestone Malformations
Cobblestone Malformations
Cobblestone Malformations
Combined Immunodeficiency
Combined Immunodeficiency
Common deletion and duplication syndromes
Common Variable Immunodeficiency
Common Variable Immunodeficiency
Complement Deficiencies
Complement Deficiencies
Cone-rod Dystrophy
Cone-rod Dystrophy
Congenital abnormalities of the kidneys and urinary tract (CAKUT)_SuperPanel
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic
Congenital diaphragmatic hernia
Congenital diaphragmatic hernia
Congenital Diarrhoea
Congenital Diarrhoea
Congenital Disorders of Glycosylation
Congenital Disorders of Glycosylation
Congenital Heart Defect
Congenital Heart Defect
Congenital hypothyroidism
Congenital hypothyroidism
Congenital Myasthenia
Congenital Myasthenia
Congenital nystagmus
Congenital nystagmus
Congenital ophthalmoplegia
Congenital ophthalmoplegia
Congenital Stationary Night Blindness
Congenital Stationary Night Blindness
Corneal Dystrophy
Corneal Dystrophy
Craniosynostosis
Craniosynostosis
Cutis Laxa
Cutis Laxa
Deafness_Isolated
Deafness_Isolated
Deafness_IsolatedAndComplex
Deafness_IsolatedAndComplex
Defects of innate immunity
Defects of innate immunity
Desmosomal disorders
Desmosomal disorders
Diabetes Insipidus
Diabetes Insipidus
Diamond Blackfan anaemia
Diamond Blackfan anaemia
Differences of Sex Development
Differences of Sex Development
Dilated Cardiomyopathy
Dilated Cardiomyopathy
Disorders of immune dysregulation
Disorders of immune dysregulation
Dyslipidaemia
Dyslipidaemia
Dystonia - complex
Dystonia - complex
Dystonia - isolated/combined
Dystonia - isolated/combined
Dystonia_Superpanel
Early-onset Dementia
Early-onset Dementia
Early-onset Parkinson disease
Early-onset Parkinson disease
Ectodermal Dysplasia
Ectodermal Dysplasia
Ehlers Danlos syndromes
Ehlers Danlos syndromes
Epidermolysis bullosa
Epidermolysis bullosa
Episodic Ataxia
Episodic Ataxia
Eye Anterior Segment Abnormalities
Eye Anterior Segment Abnormalities
Facial papules
Facial papules
Familial Generalised Epilepsy
Familial Generalised Epilepsy
Familial hypercholesterolaemia
Familial hypercholesterolaemia
Familial hypoparathyroidism
Familial hypoparathyroidism
Fatty Acid Oxidation Defects
Fatty Acid Oxidation Defects
Fetal anomalies
Fetal anomalies
Focal Epilepsy
Focal Epilepsy
Foveal Hypoplasia
Foveal Hypoplasia
Frontonasal dysplasia
Frontonasal dysplasia
Gastrointestinal neuromuscular disease
Gastrointestinal neuromuscular disease
Genetic Epilepsy
Genetic Epilepsy
BabyScreen+ newborn screening
BabyScreen+ newborn screening
Glaucoma congenital
Glaucoma congenital
Glycogen Storage Diseases
Glycogen Storage Diseases
Growth failure
Growth failure
Haematuria_Alport
Haematuria_Alport
Haem degradation and bilirubin metabolism defects
Haem degradation and bilirubin metabolism defects
Hair disorders
Hair disorders
Hand and foot malformations
Hand and foot malformations
Hereditary angioedema
Hereditary angioedema
Hereditary Haemorrhagic Telangiectasia
Hereditary Haemorrhagic Telangiectasia
Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy_CMT_IsolatedAndComplex
Hereditary Neuropathy - complex
Hereditary Neuropathy - complex
Hereditary Spastic Paraplegia - paediatric
Hereditary Spastic Paraplegia - paediatric
Hereditary Spastic Paraplegia - adult onset
Hereditary Spastic Paraplegia - adult onset
Hereditary Spastic Paraplegia Superpanel
Heterotaxy
Heterotaxy
Hirschsprung disease
Hirschsprung disease
Holoprosencephaly and septo-optic dysplasia
Holoprosencephaly and septo-optic dysplasia
Homologous_recombination_deficiency_WTS_UMCCR
Homologous_recombination_deficiency_WTS_UMCCR
Hydrocephalus_Ventriculomegaly
Hydrocephalus_Ventriculomegaly
Hydrops fetalis
Hydrops fetalis
Hyperammonaemia
Hyperammonaemia
Hypercalcaemia
Hypercalcaemia
Hyper-IgE syndrome
Hyper-IgE syndrome
Hyperinsulinism
Hyperinsulinism
Hypertension and Aldosterone disorders
Hypertension and Aldosterone disorders
Hyperthyroidism
Hyperthyroidism
Hypertrichosis syndromes
Hypertrichosis syndromes
Hypertrophic cardiomyopathy_HCM
Hypertrophic cardiomyopathy_HCM
IBMDx study
IBMDx study
Ichthyosis
Ichthyosis
Immune_markers_WTS_UMCCR
Immune_markers_WTS_UMCCR
Immunological disorders_SuperPanel
Imprinting disorders
Imprinting disorders
Incidentalome
Incidentalome
Incidentalome_PREGEN_DRAFT
Incidentalome_PREGEN_DRAFT
Inflammatory bowel disease
Inflammatory bowel disease
Intellectual disability syndromic and non-syndromic
Intellectual disability syndromic and non-syndromic
Interstitial Lung Disease
Interstitial Lung Disease
Joubert syndrome and other neurological ciliopathies
Joubert syndrome and other neurological ciliopathies
Kabuki syndrome
Kabuki syndrome
Kidneyome_SuperPanel
Leukodystrophy - adult onset
Leukodystrophy - adult onset
Leukodystrophy - paediatric
Leukodystrophy - paediatric
Leukodystrophy_Superpanel
Limb and Digital Malformations SuperPanel
Limb-Girdle Muscular Dystrophy and Distal Myopathy
Limb-Girdle Muscular Dystrophy and Distal Myopathy
Lipodystrophy_Lipoatrophy
Lipodystrophy_Lipoatrophy
Lissencephaly and Band Heterotopia
Lissencephaly and Band Heterotopia
Liver Failure_Paediatric
Liver Failure_Paediatric
Liverome Superpanel
Long QT Syndrome
Long QT Syndrome
Lymphoedema_nonsyndromic
Lymphoedema_nonsyndromic
Lymphoedema_syndromic
Lymphoedema_syndromic
Lysosomal Storage Disorder
Lysosomal Storage Disorder
Mackenzie's Mission_Reproductive Carrier Screening
Mackenzie's Mission_Reproductive Carrier Screening
Macrocephaly_Megalencephaly
Macrocephaly_Megalencephaly
Macular Dystrophy/Stargardt Disease
Macular Dystrophy/Stargardt Disease
Malformations of cortical development_Superpanel
Malignant Hyperthermia Susceptibility
Malignant Hyperthermia Susceptibility
Mandibulofacial Acrofacial dysostosis
Mandibulofacial Acrofacial dysostosis
Maturity-onset Diabetes of the Young
Maturity-onset Diabetes of the Young
Medulloblastoma
Medulloblastoma
Melanoma
Melanoma
Mendelian susceptibility to Immune Disorders
Mendelian susceptibility to Immune Disorders
Mendeliome
Mendeliome
Metabolic Disorders Superpanel
Metal Metabolism Disorders
Metal Metabolism Disorders
Metaphyseal dysplasias
Metaphyseal dysplasias
Microcephalic Primordial Dwarfism and Slender bone dysplasias
Microcephalic Primordial Dwarfism and Slender bone dysplasias
Microcephaly
Microcephaly
Mirror movements
Mirror movements
Miscellaneous Metabolic Disorders
Miscellaneous Metabolic Disorders
Mitochondrial disease
Mitochondrial disease
Monogenic Diabetes
Monogenic Diabetes
Mosaic skin disorders
Mosaic skin disorders
Motor Neurone Disease
Motor Neurone Disease
Multiple epiphyseal dysplasia and pseudoachondroplasia
Multiple epiphyseal dysplasia and pseudoachondroplasia
Multiple joint dislocations and laxity
Multiple joint dislocations and laxity
Multiple pterygium syndrome_Fetal akinesia sequence
Multiple pterygium syndrome_Fetal akinesia sequence
Muscular dystrophy and myopathy_Paediatric
Muscular dystrophy and myopathy_Paediatric
Myopathy Superpanel
NCGC
NCGC
Neurodegeneration with brain iron accumulation
Neurodegeneration with brain iron accumulation
Neurodegenerative disease - adult onset
Neuromuscular Superpanel
Neurotransmitter Defects
Neurotransmitter Defects
Nucleotide metabolism disorders
Nucleotide metabolism disorders
Ocular and Oculocutaneous Albinism
Ocular and Oculocutaneous Albinism
Oligodontia
Oligodontia
Optic Atrophy
Optic Atrophy
Osteogenesis Imperfecta and Osteoporosis
Osteogenesis Imperfecta and Osteoporosis
Osteopetrosis
Osteopetrosis
Overgrowth
Overgrowth
Pain syndromes
Pain syndromes
Palmoplantar Keratoderma and Erythrokeratoderma
Palmoplantar Keratoderma and Erythrokeratoderma
Pancreatitis
Pancreatitis
Paroxysmal Dyskinesia
Paroxysmal Dyskinesia
Periventricular Grey Matter Heterotopia
Periventricular Grey Matter Heterotopia
Peroxisomal Disorders
Peroxisomal Disorders
Phagocyte Defects
Phagocyte Defects
Pharmacogenomics_Paediatric
Pharmacogenomics_Paediatric
Photosensitivity Syndromes
Photosensitivity Syndromes
Pierre Robin Sequence
Pierre Robin Sequence
Pituitary hormone deficiency
Pituitary hormone deficiency
Pneumothorax
Pneumothorax
Polycystic liver disease
Polycystic liver disease
Polydactyly
Polydactyly
Polymicrogyria and Schizencephaly
Polymicrogyria and Schizencephaly
Predominantly Antibody Deficiency
Predominantly Antibody Deficiency
Prepair 1000+
Prepair 1000+
Prepair 500+
Prepair 500+
Primary Ovarian Insufficiency_Premature Ovarian Failure
Primary Ovarian Insufficiency_Premature Ovarian Failure
Progressive Myoclonic Epilepsy
Progressive Myoclonic Epilepsy
Progressive Neurological Conditions
Proteinuria
Proteinuria
Pseudohypoparathyroidism and Albright Hereditary Osteodystrophy
Pseudohypoparathyroidism and Albright Hereditary Osteodystrophy
Pulmonary Arterial Hypertension
Pulmonary Arterial Hypertension
Pulmonary Fibrosis_Interstitial Lung Disease
Pulmonary Fibrosis_Interstitial Lung Disease
Radial Ray Abnormalities
Radial Ray Abnormalities
Rasopathy
Rasopathy
Red cell disorders
Red cell disorders
Regression
Regression
Renal cancer
Renal cancer
Renal Ciliopathies and Nephronophthisis
Renal Ciliopathies and Nephronophthisis
Renal Cystic Disease_SuperPanel
Renal Glomerular Disease_SuperPanel
Renal Macrocystic Disease
Renal Macrocystic Disease
Renal Tubulointerstitial Disease
Renal Tubulointerstitial Disease
Renal Tubulopathies and related disorders
Renal Tubulopathies and related disorders
Repeat Disorders
Retinal Disorders Superpanel
Retinitis pigmentosa_Autosomal Recessive/X-linked
Retinitis pigmentosa_Autosomal Recessive/X-linked
Retinitis pigmentosa_Autosomal Dominant
Retinitis pigmentosa_Autosomal Dominant
Retinitis Pigmentosa Superpanel
Rhabdomyolysis and Metabolic Myopathy
Rhabdomyolysis and Metabolic Myopathy
Sarcoma
Sarcoma
Schwannomatosis
Schwannomatosis
Severe Combined Immunodeficiency (absent T present B cells)
Severe Combined Immunodeficiency (absent T present B cells)
Severe Combined Immunodeficiency (absent T absent B cells)
Severe Combined Immunodeficiency (absent T absent B cells)
Severe early-onset obesity
Severe early-onset obesity
Short Long Bones with Advanced Carpal Bone Age
Short Long Bones with Advanced Carpal Bone Age
Short QT syndrome
Short QT syndrome
Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy
Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy
Sick sinus syndrome
Sick sinus syndrome
Skeletal dysplasia
Skeletal dysplasia
Skeletal Dysplasia_Fetal
Skeletal Dysplasia_Fetal
Skeletal Muscle Channelopathies
Skeletal Muscle Channelopathies
Speech apraxia
Speech apraxia
Spondylocostal Dysostosis
Spondylocostal Dysostosis
Stickler Syndrome
Stickler Syndrome
Stroke
Stroke
Susceptibility to Fungal Infections
Susceptibility to Fungal Infections
Susceptibility to Viral Infections
Susceptibility to Viral Infections
Syndromic Retinopathy
Syndromic Retinopathy
TCGA_PANCAN_2018
TCGA_PANCAN_2018
Transplant Co-Morbidity Superpanel
Transplant Co-Morbidity Superpanel
Tremors_Superpanel
Tuberous Sclerosis_Focal Cortical Dysplasia_Hemimegalencephaly
Tuberous Sclerosis_Focal Cortical Dysplasia_Hemimegalencephaly
Tubulinopathies
Tubulinopathies
Usher Syndrome
Usher Syndrome
Vascular Malformations_Germline
Vascular Malformations_Germline
Vascular Malformations_Somatic
Vascular Malformations_Somatic
Vascular Malformations SuperPanel
Vasculitis
Vasculitis
Ventricular Fibrillation
Ventricular Fibrillation
Vitamin metabolism disorders
Vitamin metabolism disorders
Vitreoretinopathy
Vitreoretinopathy
Wilms Tumour Predisposition
Wilms Tumour Predisposition
Version
Panel Version
2.0
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05 Feb 2026
Cobblestone Malformations v2.0
Panel created by migration from gene set to gene set Ensemblv115. Source panel: Cobblestone Malformations v1.1