Vascular skin disorders
Gene: SCN9AEnsemblGeneIds (GRCh38): ENSG00000169432
EnsemblGeneIds (GRCh37): ENSG00000169432
OMIM: 603415, Gene2Phenotype
SCN9A is in 13 panels
3 reviews
Catherine Snow (Genomics England)
Comment on mode of inheritance: Following advice from Tom Cullup (GOSH) ATR MOI was changed to MonoallelicCreated: 9 Dec 2019, 3:40 p.m. | Last Modified: 9 Dec 2019, 3:40 p.m.
Panel Version: 0.23
Rebecca Foulger (Genomics England curator)
This gene was part of an initial gene list collated by Thomas Cullup, GOSH and Veronica Kinsler, UCL, 25.Jan.2019 on behalf of the GMS Skin Specialist Test Group. Gene Symbol submitted: SCN9A; Suggested initial gene rating: Green; Evidence for inclusion: none provided; Evidence for exclusion: none provided; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none provided.Created: 31 Jan 2019, 12:05 p.m.
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- London North GLH
- NHS GMS
- Expert Review Green
- Phenotypes
-
- Erythermalgia, primary, OMIM:133020
- OMIM
- 603415
- Clinvar variants
- Variants in SCN9A
- Penetrance
- None
- Publications
- Panels with this gene
-
- Brain channelopathy
- Paroxysmal central nervous system disorders
- Hereditary neuropathy or pain disorder
- Adult onset neurodegenerative disorder
- 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
- Intellectual disability
- Pain syndromes
History Filter Activity
Set Phenotypes
Ivone Leong (Genomics England Curator)Phenotypes for gene: SCN9A were changed from Erythromyalgia to Erythermalgia, primary, OMIM:133020
Set publications
Ivone Leong (Genomics England Curator)Publications for gene: SCN9A were set to
Set mode of inheritance
Catherine Snow (Genomics England)Mode of inheritance for gene: SCN9A was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added New Source
Rebecca Foulger (Genomics England curator)Source London North GLH was added to SCN9A.
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Rebecca Foulger (Genomics England curator)gene: SCN9A was added gene: SCN9A was added to Vascular skin disorders. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: SCN9A was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: SCN9A were set to Erythromyalgia