This Panel is marked as Internal
Dystonia - childhood onset
Gene: SCN9A
SCN9A (sodium voltage-gated channel alpha subunit 9)
EnsemblGeneIds (GRCh38): ENSG00000169432
EnsemblGeneIds (GRCh37): ENSG00000169432
OMIM: 603415, Gene2Phenotype
SCN9A is in 13 panels
EnsemblGeneIds (GRCh38): ENSG00000169432
EnsemblGeneIds (GRCh37): ENSG00000169432
OMIM: 603415, Gene2Phenotype
SCN9A is in 13 panels
0 reviews
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- 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
- OMIM
- 603415
- Clinvar variants
- Variants in SCN9A
- Penetrance
- None
- Panels with this gene
-
- Familial dysautonomia
- Vascular skin disorders
- Hereditary ataxia with onset in adulthood
- Childhood onset dystonia, chorea or related movement disorder
- Hereditary neuropathy or pain disorder
- Adult onset dystonia, chorea or related movement disorder
- Pain syndromes
- Adult onset neurodegenerative disorder
- Intellectual disability
- Brain channelopathy
- Hereditary neuropathy
- Early onset or syndromic epilepsy
- Paroxysmal central nervous system disorders
History Filter Activity
9 Jan 2019, Gel status: 1
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)Eleanor Williams: Updated to green when making t
19 Dec 2018, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Eleanor Williams (Genomics England Curator)gene: SCN9A was added gene: SCN9A was added to Dystonia - childhood 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 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