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Achromatopsia
Additional findings_Adult
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Alagille syndrome
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Callosome
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Cardiomyopathy_Adult_SuperPanel
Cardiomyopathy_Paediatric
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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
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Congenital Heart Defect
Congenital hypothyroidism
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Congenital Stationary Night Blindness
Corneal Dystrophy
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Cutis Laxa
Deafness_Isolated
Deafness_IsolatedAndComplex
Defects of intrinsic and innate immunity
Desmosomal disorders
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Diamond Blackfan anaemia
Differences of Sex Development
Diffuse Gastric Cancer
Dilated Cardiomyopathy
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Dystonia_Superpanel
Early-onset Dementia
Early-onset Parkinson disease
Ectodermal Dysplasia
Endometrial Cancer
Epidermolysis bullosa
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Eye Anterior Segment Abnormalities
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Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy_CMT_IsolatedAndComplex
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Hereditary Spastic Paraplegia - adult onset
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Hereditary Spastic Paraplegia Superpanel
Heterotaxy
Hirschsprung disease
Holoprosencephaly and septo-optic dysplasia
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IBMDx study
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Incidentalome_PREGEN_DRAFT
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Interstitial Lung Disease
Joubert syndrome and other neurological ciliopathies
Kabuki syndrome
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Kidneyome_SuperPanel
Leukodystrophy - adult onset
Leukodystrophy - paediatric
Leukodystrophy_Superpanel
Limb and Digital Malformations SuperPanel
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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
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Malformations of cortical development_Superpanel
Malignant Hyperthermia Susceptibility
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Motor Neurone Disease
Multiple epiphyseal dysplasia and pseudoachondroplasia
Multiple joint dislocations and laxity
Multiple pterygium syndrome_Fetal akinesia sequence
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Myopathy Superpanel
Neuroblastoma
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Palmoplantar Keratoderma and Erythrokeratoderma
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Photosensitivity Syndromes
Pierre Robin Sequence
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Pneumothorax
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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
Rasopathy
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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 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
Sick sinus syndrome
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
0.305
Gene or Genomic Entity Name
SCNN1B
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17 Dec 2019
Skeletal dysplasia v0.0
SCNN1B
Zornitza Stark gene: SCNN1B was added
gene: SCNN1B was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory
Mode of inheritance for gene: SCNN1B was set to