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Alagille syndrome
Alagille syndrome
Alternating Hemiplegia and Hemiplegic Migraine
Alternating Hemiplegia and Hemiplegic Migraine
Amelogenesis imperfecta
Amelogenesis imperfecta
Aminoacidopathy
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Renal Amyloidosis
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Angelman Rett like syndromes
Angelman Rett like syndromes
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Aortopathy_Connective Tissue Disorders
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Arrhythmogenic Cardiomyopathy
Arrhythmogenic Cardiomyopathy
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Ataxia - paediatric
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Ataxia - adult onset
Ataxia_Superpanel
Atrial Fibrillation
Atrial Fibrillation
Atypical Haemolytic Uraemic Syndrome_MPGN
Atypical Haemolytic Uraemic Syndrome_MPGN
Auditory Neuropathy
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Autism
Autism
Systemic Autoinflammatory Disease_Periodic Fever
Systemic Autoinflammatory Disease_Periodic Fever
Autonomic neuropathy
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Bardet Biedl syndrome
Bardet Biedl syndrome
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Blepharophimosis
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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
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Cancer Predisposition_Paediatric
Cancer Predisposition_Paediatric
Cardiomyopathy_Adult_SuperPanel
Cardiomyopathy_Paediatric
Cardiomyopathy_Paediatric
Cataract
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Catecholaminergic Polymorphic Ventricular Tachycardia
Catecholaminergic Polymorphic Ventricular Tachycardia
Central Hypoventilation
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Cerebellar and Pontocerebellar Hypoplasia
Cerebellar and Pontocerebellar Hypoplasia
Cerebral amyloid angiopathy
Cerebral amyloid angiopathy
Cerebral Palsy
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Cerebral vascular malformations
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CGC_86
CGC_86
Choanal atresia
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Cholestasis
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Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic
Congenital diaphragmatic hernia
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Cutis Laxa
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Diamond Blackfan anaemia
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Eye Anterior Segment Abnormalities
Eye Anterior Segment Abnormalities
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Familial Generalised Epilepsy
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Haem degradation and bilirubin metabolism defects
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Hereditary Neuropathy - complex
Hereditary Neuropathy - complex
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Hereditary Spastic Paraplegia - adult onset
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Heterotaxy
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Homologous_recombination_deficiency_WTS_UMCCR
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IBMDx study
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Immunological disorders_SuperPanel
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Interstitial Lung Disease
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Kabuki syndrome
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Leukodystrophy - adult onset
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Leukodystrophy - paediatric
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Liver Failure_Paediatric
Liverome Superpanel
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Long QT Syndrome
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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
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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
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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
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Skeletal Dysplasia_Fetal
Skeletal Dysplasia_Fetal
Skeletal Muscle Channelopathies
Skeletal Muscle Channelopathies
Speech apraxia
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Spondylocostal Dysostosis
Spondylocostal Dysostosis
Stickler Syndrome
Stickler Syndrome
Stroke
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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
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Usher Syndrome
Usher Syndrome
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Vascular Malformations SuperPanel
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Ventricular Fibrillation
Ventricular Fibrillation
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Vitamin metabolism disorders
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Vitreoretinopathy
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Wilms Tumour Predisposition
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2.0
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SBF1
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05 Feb 2026
Hereditary Neuropathy_CMT - isolated v2.0
SBF1
Gene migrated from ENSG00000100241 to ENSG00000100241 (gene set migration)