Hereditary ataxia with onset in adulthood
Gene: SCN9AEnsemblGeneIds (GRCh38): ENSG00000169432
EnsemblGeneIds (GRCh37): ENSG00000169432
OMIM: 603415, Gene2Phenotype
SCN9A is in 13 panels
2 reviews
Louise Daugherty (Genomics England Curator)
Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group.Created: 15 Apr 2019, 10:21 a.m.
Tracy Lester (Genetics laboratory, Oxford UK)
Can see no evidence of ataxia or cerebellar abnormalities reported in conjunction with pathogenic variants in this gene. Loose reports of modifying Dravet syndrome may have resulted in its inclusion?Created: 15 Apr 2019, 10:06 a.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Multiple
Details
- Mode of Inheritance
- 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
- OMIM
- 603415
- Clinvar variants
- Variants in SCN9A
- Penetrance
- None
- Panels with this gene
-
- Childhood onset dystonia, chorea or related movement disorder
- Hereditary ataxia with onset in adulthood
- Familial dysautonomia
- Hereditary neuropathy
- Adult onset dystonia, chorea or related movement disorder
- Vascular skin disorders
- Early onset or syndromic epilepsy
- Pain syndromes
- Intellectual disability
- Brain channelopathy
- Paroxysmal central nervous system disorders
- Hereditary neuropathy or pain disorder
- Adult onset neurodegenerative disorder
History Filter Activity
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to SCN9A.
Added New Source
Louise Daugherty (Genomics England Curator)Source Wessex and West Midlands GLH was added to SCN9A.
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)Louise Daugherty: Comment on phenotypes: Implica
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Eleanor Williams (Genomics England Curator)gene: SCN9A was added gene: SCN9A was added to Hereditary ataxia - adult onset. Sources: Brain channelopathy v1.46,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