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Achromatopsia
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Deafness_IsolatedAndComplex
Defects of intrinsic and innate immunity
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Dystonia_Superpanel
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Ectodermal Dysplasia
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Eye Anterior Segment Abnormalities
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Hereditary Spastic Paraplegia Superpanel
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IBMDx study
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Incidentalome_PREGEN_DRAFT
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Joubert syndrome and other neurological ciliopathies
Kabuki syndrome
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Kidneyome_SuperPanel
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Leukodystrophy_Superpanel
Limb and Digital Malformations SuperPanel
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Liver Failure_Paediatric
Liverome Superpanel
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Mackenzie's Mission_Reproductive Carrier Screening
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Multiple pterygium syndrome_Fetal akinesia sequence
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Myopathy Superpanel
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Photosensitivity Syndromes
Pierre Robin Sequence
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Prepair 1000+
Prepair 500+
Primary Ovarian Insufficiency_Premature Ovarian Failure
Progressive Myoclonic Epilepsy
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Prostate Cancer
Proteinuria
Pseudohypoparathyroidism and Albright Hereditary Osteodystrophy
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Renal Cystic Disease_SuperPanel
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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
0.302
Gene or Genomic Entity Name
SCNN1A
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17 Dec 2019
Skeletal dysplasia v0.0
SCNN1A
Zornitza Stark gene: SCNN1A was added
gene: SCNN1A was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory
Mode of inheritance for gene: SCNN1A was set to