Hereditary neuropathy or pain disorder
Gene: SCN9AEnsemblGeneIds (GRCh38): ENSG00000169432
EnsemblGeneIds (GRCh37): ENSG00000169432
OMIM: 603415, Gene2Phenotype
SCN9A is in 13 panels
7 reviews
Natalie Forrester (SWGLH - Bristol Genetics)
Several positive patients in Bristol with inkeeping sensory features. In one family homozygous nonsense variant in 3 affected family members. PMID:26392352 - our Bristol paper including patient with frameshift variant and sensory clinical neuropathy with painful feet and severe non healing ulcersCreated: 29 Apr 2019, 12:30 p.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Hereditary Neuropathies
Publications
Variants in this GENE are reported as part of current diagnostic practice
Louise Daugherty (Genomics England Curator)
Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.Created: 9 May 2019, 5 p.m.
Review and rating submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.Created: 29 Apr 2019, 12:53 p.m.
James Polke (Neurogenetics Laboratory, Institute of Neurology, London)
Variants in this GENE are reported as part of current diagnostic practice
Rita Horvath (Institute of Genetic Medicine, Newcastle University)
Ellen McDonagh (Genomics England Curator)
Comment on mode of inheritance: Seems to be recessive for insensitivity to pain (OMIM), therefore have denoted this by selecting both monoallelic (suggestion by reviewers) and biallelic (OMIM).Created: 4 May 2016, 9:02 a.m.
Comment on list classification: Promoted from amber to green due to agreement from 4 reviewers.Created: 4 May 2016, 9 a.m.
Alexander Rossor (UCL Institute of Neurology)
HSNCreated: 9 Dec 2015, 8:49 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Variants in this GENE are reported as part of current diagnostic practice
Mary Reilly (Institute of Neurology)
HSNCreated: 8 Dec 2015, 3:05 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- 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
- OMIM
- 603415
- Clinvar variants
- Variants in SCN9A
- Penetrance
- None
- Publications
- 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
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: SCN9A was added gene: SCN9A was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH,Expert list,Emory Genetics Laboratory,UKGTN,Expert Review Green,South West GLH Mode of inheritance for gene: SCN9A was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: SCN9A were set to 26392352 Phenotypes for gene: SCN9A were set to Hereditary Neuropathies