SCN9A

sodium voltage-gated channel alpha subunit 9
OMIM: 603415, Gene2Phenotype

11 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 11 panels
Green SCN9A in Autism Level 2: Neurology and neurodevelopmental disorders Version 0.198	review	Unknown	Sources Genetic Health Queensland Expert Review Green Victorian Clinical Genetics Services Expert Review Green
Green SCN9A in Mendeliome Version 1.1891	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Erythermalgia, primary, MIM# 133020 Insensitivity to pain, congenital, MIM# 243000 Neuropathy, hereditary sensory and autonomic, type IID, MIM# 243000 Paroxysmal extreme pain disorder, MIM# 167400 Small fiber neuropathy,MIM# 133020
Red SCN9A in Genetic Epilepsy Level 2: Neurology and neurodevelopmental disorders Version 1.33 Component of the following Super Panels: Progressive Neurological Conditions	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes {Dravet syndrome, modifier of} MIM#607208 Epilepsy, generalized, with febrile seizures plus, type 7 MIM#613863 Febrile seizures, familial, 3B MIM#613863
Red SCN9A in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 0.6063	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Phenotypes Epilepsy, generalized, with febrile seizures plus, type 7, MIM#613863 HSAN2D, autosomal recessive, MIM#243000
Green SCN9A in Hereditary Neuropathy_CMT - isolated Level 2: Neurology and neurodevelopmental disorders Version 1.48 Component of the following Super Panels: Hereditary Neuropathy_CMT_IsolatedAndComplex Neuromuscular Superpanel Progressive Neurological Conditions	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Erythermalgia, primary, MIM# 133020 Insensitivity to pain, congenital, MIM# 243000 Neuropathy, hereditary sensory and autonomic, type IID, MIM# 243000 Paroxysmal extreme pain disorder, MIM# 167400 Small fiber neuropathy,MIM# 133020
Green SCN9A in Pain syndromes Level 2: Neurology and neurodevelopmental disorders Version 0.34 Component of the following Super Panels: Progressive Neurological Conditions	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes HSAN2D, autosomal recessive, AR, 243000 Erythermalgia, primary, AD, 133020 Small fiber neuropathy, AD,133020 Insensitivity to pain, congenital, AR, 243000 Paroxysmal extreme pain disorder, AD, 167400
Green SCN9A in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 0.109	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Insensitivity to pain, congenital, 243000 (3)
Green SCN9A in Autonomic neuropathy Level 2: Autonomic Neuropathy Version 0.50	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes OMIM# 243000 NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IID, INCLUDED HSAN2D,
Red SCN9A in Focal Epilepsy Level 2: Neurology and neurodevelopmental disorders Version 0.14	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red GREP Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Epilepsy, generalized, with febrile seizures plus, type 7 613863 {Dravet syndrome, modifier of} 607208
Red SCN9A in Familial Generalised Epilepsy Level 2: Neurology and neurodevelopmental disorders Version 0.14	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red GREP Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes {Dravet syndrome, modifier of} 607208 Epilepsy, generalized, with febrile seizures plus, type 7 613863 Febrile seizures, familial, 3B 613863
Green SCN9A in Prepair 1000+ Level 2: Screening Version 1.9	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Insensitivity to pain, congenital, 243000 (3)