Hereditary neuropathy

Gene: SCN9A

Green List (high evidence)

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 ulcers

Created: 29 Apr 2019, 12:30 p.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Hereditary Neuropathies

Publications

• 26392352

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

I don't know

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.

Green List (high evidence)

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

Green List (high evidence)

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.

Green List (high evidence)

HSN

Created: 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

Green List (high evidence)

HSN

Created: 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