Vascular skin disorders
Gene: SCN9AComment on mode of inheritance: Following advice from Tom Cullup (GOSH) ATR MOI was changed to MonoallelicCreated: 9 Dec 2019, 3:40 p.m. | Last Modified: 9 Dec 2019, 3:40 p.m.
Panel Version: 0.23
This gene was part of an initial gene list collated by Thomas Cullup, GOSH and Veronica Kinsler, UCL, 25.Jan.2019 on behalf of the GMS Skin Specialist Test Group. Gene Symbol submitted: SCN9A; Suggested initial gene rating: Green; Evidence for inclusion: none provided; Evidence for exclusion: none provided; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none provided.Created: 31 Jan 2019, 12:05 p.m.
Variants in this GENE are reported as part of current diagnostic practice
Phenotypes for gene: SCN9A were changed from Erythromyalgia to Erythermalgia, primary, OMIM:133020
Publications for gene: SCN9A were set to
Mode of inheritance for gene: SCN9A was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Source London North GLH was added to SCN9A.
gene: SCN9A was added gene: SCN9A was added to Vascular skin disorders. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: SCN9A was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: SCN9A were set to Erythromyalgia