Pain syndromes

Gene: SCN11A

Green List (high evidence)

Comment on phenotypes: reformatted phenotype listing

Created: 19 Sep 2017, 11:37 a.m.

Comment on publications: added publications suggested by Arianna Tucci

Created: 9 Jul 2017, 5:09 p.m.

hereditary sensory and autonomic neuropathy type VII= Insensitivity to pain

Created: 9 Jul 2017, 4:30 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Neuropathy, hereditary sensory and autonomic, type VII; 615548; Episodic pain syndrome, familial, 3; 615552

Publications

• 28665811
• 25316021
• 24813307

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Familial episodic pain syndrome; Hereditary sensory and autonomic neuropathy type VII

Publications

• 24207120
• 24776970
• 24036948

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

Green List (high evidence)

Gain of function mutations cause congenital insensitivity to pain. Many families described with mutations in this gene and relevant phenotype

Created: 27 Jun 2017, 12:46 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Episodic pain syndrome, familial, 3 615552; Congenital insensitivity to pain; Familial episodic pain syndrome type III

Publications

• 28298626
• 27503742
• 26645915
• 24776970