Adult onset neurodegenerative disorder
Gene: SCN9AEnsemblGeneIds (GRCh38): ENSG00000169432
EnsemblGeneIds (GRCh37): ENSG00000169432
OMIM: 603415, Gene2Phenotype
SCN9A is in 13 panels
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Details
- Mode of Inheritance
- 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
- OMIM
- 603415
- Clinvar variants
- Variants in SCN9A
- Penetrance
- None
- Panels with this gene
-
- Brain channelopathy
- Hereditary neuropathy
- Paroxysmal central nervous system disorders
- Hereditary ataxia with onset in adulthood
- Intellectual disability
- Early onset or syndromic epilepsy
- Familial dysautonomia
- Adult onset neurodegenerative disorder
- Childhood onset dystonia, chorea or related movement disorder
- Vascular skin disorders
- Hereditary neuropathy or pain disorder
- Adult onset dystonia, chorea or related movement disorder
- Pain syndromes
History Filter Activity
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)Rebecca Foulger: Gene awaiting curator evaluati
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Rebecca Foulger (Genomics England curator)gene: SCN9A was added gene: SCN9A was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red Mode of inheritance for gene: SCN9A was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: SCN9A were set to 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