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Achromatopsia
Additional findings_Adult
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Adult Cardiac SuperPanel
Alagille syndrome
Alternating Hemiplegia and Hemiplegic Migraine
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Angelman Rett like syndromes
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Arrhythmogenic Cardiomyopathy
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Ataxia_Superpanel
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BabyScreen+ newborn screening
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Cardiomyopathy_Adult_SuperPanel
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CGC_86
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Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic
Congenital diaphragmatic hernia
Congenital Diarrhoea
Congenital Disorders of Glycosylation
Congenital Heart Defect
Congenital hypothyroidism
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Corneal Dystrophy
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Cutis Laxa
Deafness_Isolated
Deafness_IsolatedAndComplex
Defects of innate immunity
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Diabetes Insipidus
Diamond Blackfan anaemia
Differences of Sex Development
Dilated Cardiomyopathy
Disorders of immune dysregulation
Dyslipidaemia
Dystonia - complex
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Dystonia_Superpanel
Early-onset Dementia
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Ectodermal Dysplasia
Ehlers Danlos syndromes
Epidermolysis bullosa
Episodic Ataxia
Eye Anterior Segment Abnormalities
Facial papules
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Haematuria_Alport
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Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy_CMT_IsolatedAndComplex
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Hereditary Spastic Paraplegia - adult onset
Hereditary Spastic Paraplegia - paediatric
Hereditary Spastic Paraplegia Superpanel
Heterotaxy
Hirschsprung disease
Holoprosencephaly and septo-optic dysplasia
Homologous_recombination_deficiency_WTS_UMCCR
Hydrocephalus_Ventriculomegaly
Hydrops fetalis
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Hypercalcaemia
Hyper-IgE syndrome
Hyperinsulinism
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Hypertrichosis syndromes
Hypertrophic cardiomyopathy_HCM
IBMDx study
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Immune_markers_WTS_UMCCR
Immunological disorders_SuperPanel
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Incidentalome
Incidentalome_PREGEN_DRAFT
Inflammatory bowel disease
Intellectual disability syndromic and non-syndromic
Interstitial Lung Disease
Joubert syndrome and other neurological ciliopathies
Kabuki syndrome
Kidneyome_SuperPanel
Leukodystrophy - adult onset
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Leukodystrophy_Superpanel
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
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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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Mendeliome
Metabolic Disorders Superpanel
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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
NCGC
Neurodegeneration with brain iron accumulation
Neurodegenerative disease - adult onset
Neuromuscular Superpanel
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Nucleotide metabolism disorders
Ocular and Oculocutaneous Albinism
Oligodontia
Optic Atrophy
Osteogenesis Imperfecta and Osteoporosis
Osteopetrosis
Overgrowth
Pain syndromes
Palmoplantar Keratoderma and Erythrokeratoderma
Pancreatitis
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Periventricular Grey Matter Heterotopia
Peroxisomal Disorders
Phagocyte Defects
Pharmacogenomics_Paediatric
Photosensitivity Syndromes
Pierre Robin Sequence
Pituitary hormone deficiency
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
Proteinuria
Pseudohypoparathyroidism and Albright Hereditary Osteodystrophy
Pulmonary Arterial Hypertension
Pulmonary Fibrosis_Interstitial Lung Disease
Radial Ray Abnormalities
Rasopathy
Red cell disorders
Regression
Renal Amyloidosis
Renal cancer
Renal Ciliopathies and Nephronophthisis
Renal Cystic Disease_SuperPanel
Renal Glomerular Disease_SuperPanel
Renal Macrocystic Disease
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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
Schwannomatosis
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
Sick sinus syndrome
Skeletal dysplasia
Skeletal Dysplasia_Fetal
Skeletal Muscle Channelopathies
Speech apraxia
Spondylocostal Dysostosis
Stickler Syndrome
Stroke
Susceptibility to Fungal Infections
Susceptibility to Viral Infections
Syndromic Retinopathy
Systemic Autoinflammatory Disease_Periodic Fever
TCGA_PANCAN_2018
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 Predisposition
Version
Panel Version
0.285
Gene or Genomic Entity Name
CRB1
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17 Dec 2019
Skeletal dysplasia v0.0
CRB1
Zornitza Stark gene: CRB1 was added
gene: CRB1 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory
Mode of inheritance for gene: CRB1 was set to