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  3. SNAI2
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Deafness_Isolated

Gene: SNAI2

Amber List (moderate evidence)
SNAI2 (snail family transcriptional repressor 2)
EnsemblGeneIds (GRCh38): ENSG00000019549
EnsemblGeneIds (GRCh37): ENSG00000019549
OMIM: 602150, Gene2Phenotype
SNAI2 is in 3 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Two families reported initially with homozygous deletion of this gene and features of Waardenburg syndrome including deafness. Additional individuals reported as part of a large Chinese cohort. Gene-disease association rated as LIMITED by ClinGen.
Created: 28 Jan 2020, 11:19 p.m. | Last Modified: 28 Jan 2020, 11:19 p.m.
Panel Version: 0.257

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Waardenburg syndrome, type 2D, MIM# 608890

Publications

Created: 28 Jan 2020, 11:19 p.m.
Last Modified: 28 Jan 2020, 11:19 p.m.
Panel version: Imported from Deafness_IsolatedAndComplex panel version 0.257

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
  • Melbourne Genomics Health Alliance Deafness Flagship
  • Melbourne Genomics Health Alliance Deafness Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Waardenburg syndrome, type 2D, MIM# 608890
OMIM
602150
Clinvar variants
Variants in SNAI2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

3 Oct 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

21 Jul 2020, Gel status: 2

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SNAI2 was added gene: SNAI2 was added to DeafnessIsolated. Sources: Expert Review Amber,Melbourne Genomics Health Alliance Deafness Flagship,Victorian Clinical Genetics Services Mode of inheritance for gene: SNAI2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SNAI2 were set to 30936914; 12444107 Phenotypes for gene: SNAI2 were set to Waardenburg syndrome, type 2D, MIM# 608890