Hereditary neuropathy or pain disorder
Gene: SCN9A
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
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.
Variants in this GENE are reported as part of current diagnostic practice
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.
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
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
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