Pigmentary skin disordersGene: SNAI2
The initial report included a patient of mine who on further investigation had a KIT mutation not SNA12, correction to be published
Created: 12 Dec 2019, 12:27 p.m. | Last Modified: 12 Dec 2019, 12:27 p.m.
Panel Version: 0.26
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
PIEBALD TRAIT; PBT, WAARDENBURG SYNDROME, TYPE 2D; WS2D
For Waardenburg syndrome, type 2D, PMID: 30561083 Only 2 cases reported that resulted from homozygous SNAI2 deletions. Both had sensorineural hearing loss and heterochromia, without any cutaneous or dysmorphic manifestations. Since the initial publication in 2002, no additional confirmatory cases have been reported.
SNAI2 in Piebaldism advised to rate as Amber based on review by Celia Moss.
Created: 12 Dec 2019, 12:20 p.m. | Last Modified: 12 Dec 2019, 12:20 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: SNAI2; 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, 11:31 a.m.
Gene: snai2 has been classified as Amber List (Moderate Evidence).
Source London North GLH was added to SNAI2.
gene: SNAI2 was added gene: SNAI2 was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: SNAI2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SNAI2 were set to Piebaldism