Pain syndromes

Gene: SCN9A

Green List (high evidence)

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

• 28665811
• 28235406
• 24813307
• 25316021
• 16392115
• 16216943
• 1536168
• 15958509
• 16392115
• 17167479
• 17470132
• 23596073
• 17145499
• 24817410
• 17679678
• 28665811

Green List (high evidence)

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

• 17167479
• 14985375
• 17145499

Variants in this GENE are reported as part of current diagnostic practice

Green List (high evidence)

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