SCN9A

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

15 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 15 panels
Green SCN9A in Familial dysautonomia Version 1.17	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green UKGTN Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Emory Genetics Laboratory Phenotypes HSAN2D, autosomal recessive, 243000 Insensitivity to pain, congenital, 243000
Red SCN9A in Brain channelopathy Level 3: Channelopathies Level 2: Neurology and neurodevelopmental disorders Version 1.80	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red UKGTN Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Phenotypes Erythermalgia, primary, 133020 Insensitivity to pain, channelopathy-associated, 243000 Paroxysmal extreme pain disorder, 167400 Febrile seizures, familial, 3B, 613863 Epilepsy, generalized, with febrile seizures plus, type 7, 613863 Congenital Indifference to Pain Dysosteosclerosis Erythermalgia, Primary Paroxysmal Extreme Pain Disorder Hereditary Sensory Neuropathy
Amber SCN9A in Autism Version 0.36	review	Not set	Sources Expert Review Amber SFARI
Green SCN9A in Pain syndromes Level 3: Channelopathies Level 2: Neurology and neurodevelopmental disorders Version 1.12	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green BRIDGE Study Tier 1 Gene Phenotypes Erythermalgia, primary, AD, 133020 Small fiber neuropathy, AD,133020 HSAN2D, autosomal recessive, AR, 243000 Insensitivity to pain, congenital, AR, 243000 Paroxysmal extreme pain disorder, AD, 167400
Red SCN9A in Paroxysmal central nervous system disorders Version 3.10 Latest signed off version: v3.0 (22 Mar 2023)	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red NHS GMS London North GLH Wessex and West Midlands GLH Phenotypes Paroxysmal extreme pain disorder, 167400 Paroxysmal Extreme Pain Disorder Congenital Indifference to Pain Erythermalgia, primary, AD, 133020 Paroxysmal extreme pain disorder, AD, 167400 Small fiber neuropathy, AD,133020 Febrile seizures, familial, 3B, 613863 Dysosteosclerosis Insensitivity to pain, congenital, AR, 243000 Epilepsy, generalized, with febrile seizures plus, type 7, 613863 Erythermalgia, Primary HSAN2D, autosomal recessive, AR, 243000 Insensitivity to pain, channelopathy-associated, 243000 Erythermalgia, primary, 133020 Hereditary Sensory Neuropathy
Green SCN9A in Vascular skin disorders Version 1.63 Latest signed off version: v1.3 (15 Oct 2020)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources London North GLH NHS GMS Expert Review Green Phenotypes Erythermalgia, primary, OMIM:133020
Red SCN9A in Adult onset neurodegenerative disorder Version 4.47 Latest signed off version: v4.34 (31 Jul 2023)	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes Erythermalgia, primary, 133020 Epilepsy, generalized, with febrile seizures plus, type 7, 613863 Congenital Indifference to Pain Paroxysmal Extreme Pain Disorder Dysosteosclerosis Insensitivity to pain, channelopathy-associated, 243000 Hereditary Sensory Neuropathy Paroxysmal extreme pain disorder, 167400 Febrile seizures, familial, 3B, 613863 Erythermalgia, Primary
Green SCN9A in Hereditary neuropathy Level 3: Motor and Sensory Disorders of the PNS Level 2: Neurology and neurodevelopmental disorders Version 1.477	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources South West GLH NHS GMS London North GLH Expert Review Green Emory Genetics Laboratory UKGTN Expert list Phenotypes Hereditary Neuropathies
Red SCN9A in Early onset or syndromic epilepsy Level 3: Inherited Epilepsy Syndromes Level 2: Neurology and neurodevelopmental disorders Version 4.196 Latest signed off version: v4.0 (22 Mar 2023) Component of the following Super Panels: Unexplained death in infancy and sudden unexplained death in childhood	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red North West GLH Wessex and West Midlands GLH NHS GMS NIHRBR-RD Consortium SPEED_v3.0_20170404 Expert Phenotypes Epilepsy, generalized, with febrile seizures plus, type 7 613863 Febrile seizures, familial, 3B 613863 {Dravet syndrome, modifier of} 607208
Red SCN9A in Intellectual disability - microarray and sequencing Level 3: Neurodevelopmental disorders Level 2: Neurology and neurodevelopmental disorders Version 5.544 Latest signed off version: v5.0 (22 Mar 2023) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Erythermalgia, primary, 133020 Paroxysmal extreme pain disorder, 167400, Insensitivity to pain, congenital, 243000 Febrile seizures, familial, 3B, 613863 Epilepsy, generalized, with febrile seizures plus, type 7, 613863 Small fiber neuropathy, 133020 {Dravet syndrome, modifier of}, 607208 HSAN2D, autosomal recessive, 243000
Red SCN9A in Hereditary ataxia with onset in adulthood Version 4.34 Latest signed off version: v4.0 (22 Mar 2023)	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources NHS GMS Wessex and West Midlands GLH Expert Review Red Brain channelopathy v1.46 Phenotypes Paroxysmal extreme pain disorder, 167400 Congenital Indifference to Pain Paroxysmal Extreme Pain Disorder Hereditary Sensory Neuropathy Febrile seizures, familial, 3B, 613863 Dysosteosclerosis Epilepsy, generalized, with febrile seizures plus, type 7, 613863 Insensitivity to pain, channelopathy-associated, 243000 Erythermalgia, primary, 133020 Erythermalgia, Primary
Red SCN9A in Adult onset dystonia, chorea or related movement disorder Version 3.18 Latest signed off version: v3.12 (31 Jul 2023)	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources NHS GMS South West GLH Expert Review Red Phenotypes Paroxysmal extreme pain disorder, 167400 Erythermalgia, primary, 133020 Erythermalgia, Primary Paroxysmal Extreme Pain Disorder Congenital Indifference to Pain Epilepsy, generalized, with febrile seizures plus, type 7, 613863 Insensitivity to pain, channelopathy-associated, 243000 Dysosteosclerosis Hereditary Sensory Neuropathy Febrile seizures, familial, 3B, 613863
Green SCN9A in Hereditary neuropathy or pain disorder Version 3.94 Latest signed off version: v3.24 (15 May 2023)	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources South West GLH Expert Review Green UKGTN Emory Genetics Laboratory Expert list London North GLH NHS GMS South West GLH NHS GMS London North GLH Phenotypes Hereditary Neuropathies
Red SCN9A in Childhood onset dystonia, chorea or related movement disorder Version 3.77 Latest signed off version: v3.0 (22 Mar 2023)	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources South West GLH Phenotypes Paroxysmal extreme pain disorder, 167400 Erythermalgia, Primary Erythermalgia, primary, 133020 Hereditary Sensory Neuropathy Insensitivity to pain, channelopathy-associated, 243000 Congenital Indifference to Pain Epilepsy, generalized, with febrile seizures plus, type 7, 613863 Dysosteosclerosis Febrile seizures, familial, 3B, 613863 Paroxysmal Extreme Pain Disorder
Green SCN9A in Severe Paediatric Disorders Version 1.184	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Next Generation Children Project Expert Review Green Expert list Phenotypes Insensitivity to pain, congenital, 243000 Febrile seizures, familial, 3B, 613863 Paroxysmal extreme pain disorder, 167400 Epilepsy, generalized, with febrile seizures plus, type 7, 613863 Small fiber neuropathy, 133020 HSAN2D, autosomal recessive, 243000 Erythermalgia, primary, 133020