Pigmentary skin disorders

Gene: SNAI2

Amber List (moderate evidence)

SNAI2 (snail family transcriptional repressor 2)
EnsemblGeneIds (GRCh38): ENSG00000019549
EnsemblGeneIds (GRCh37): ENSG00000019549
OMIM: 602150, Gene2Phenotype
SNAI2 is in 2 panels

4 reviews

Celia Moss (Birmingham Children's Hospital)

I don't know

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

Phenotypes
PIEBALD TRAIT; PBT, WAARDENBURG SYNDROME, TYPE 2D; WS2D

Publications

Tom Cullup (Great Ormond Street Hospital)

Green List (high evidence)

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
PIEBALD TRAIT; PBT, WAARDENBURG SYNDROME, TYPE 2D; WS2D

Publications

Catherine Snow (Genomics England)

I don't know

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

Rebecca Foulger (Genomics England curator)

Green List (high evidence)

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.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Piebaldism
OMIM
602150
Clinvar variants
Variants in SNAI2
Penetrance
None
Panels with this gene

History Filter Activity

12 Dec 2019, Gel status: 2

Entity classified by Genomics England curator

Catherine Snow (Genomics England)

Gene: snai2 has been classified as Amber List (Moderate Evidence).

18 Feb 2019, Gel status: 4

Added New Source

Rebecca Foulger (Genomics England curator)

Source London North GLH was added to SNAI2.

31 Jan 2019, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Rebecca Foulger (Genomics England curator)

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