Pain syndromes
Gene: SCN9A
Different disorders depending on functional status of gene product: Congenital insensitivity to pain homozygous LOF, Primary erythromelalgia heterozygous GOF, Paroxysmal extreme pain disorder heterozygous GOF. REMOVED Generalized epilepsy with febrile seizures plus, type 7 Familial febrile seizures-3B not applicatble to this panel.Created: 9 Jul 2017, 4:30 p.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Erythermalgia, primary, AD; 133020; Small fiber neuropathy, AD; 133020; HSAN2D, autosomal recessive, AR; 243000; Insensitivity to pain, congenital, AR; 243000; Paroxysmal extreme pain disorder,AD; 167400
Publications
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Generalized epilepsy with febrile seizures plus, type 7; Primary erythermalgia; Familial febrile seizures-3B; Congenital indifference to pain; Hereditary sensory neuropathy type IID; Paroxysmal extreme pain disorder; Small fiber neuropathy
Publications
Variants in this GENE are reported as part of current diagnostic practice
Autosomal dominant point mutations have been associated with two different pain syndromes associated with gain of function—primary erythromelalgia and paroxysmal extreme pain disorder. Nonsense recessive mutations have been associated with congenital insensitivity to pain.
Created: 27 Jun 2017, 1 p.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Insensitivity to pain, congenital 243000; Paroxysmal extreme pain disorder, 167400
19th September 2017. Panel reviews were assessed, and panel was revised according to reviews and further curation.
Phenotypes for SCN9A were set to Erythermalgia, primary, AD, 133020; Small fiber neuropathy, AD,133020; HSAN2D, autosomal recessive, AR, 243000; Insensitivity to pain, congenital, AR, 243000; Paroxysmal extreme pain disorder, AD, 167400
Phenotypes for SCN9A were set to Erythermalgia, primary, AD; 133020; Small fiber neuropathy, AD; 133020; HSAN2D, autosomal recessive, AR; 243000; Insensitivity to pain, congenital, AR; 243000; Paroxysmal extreme pain disorder,AD; 167400;
Publications for SCN9A were set to 17167479; 14985375;28665811; 28235406; 24813307; 25316021; 16392115; 16216943; 1536168; 15958509; 16392115; 17167479; 17470132; 23596073; 17145499; 24817410; 17679678; 28665811
This gene has been classified as Green List (High Evidence).
SCN9A was created by BRIDGE
SCN9A was added to Pain syndromespanel. Sources: BRIDGE Study Tier 1 Gene