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Deafness_IsolatedAndComplex

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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • 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

28 Jan 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).

28 Jan 2020, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: SNAI2 were changed from to Waardenburg syndrome, type 2D, MIM# 608890

28 Jan 2020, Gel status: 2

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: SNAI2 were set to

28 Jan 2020, Gel status: 2

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: SNAI2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

28 Jan 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).

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SNAI2 was added gene: SNAI2 was added to Deafness_MelbourneGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Deafness Flagship Mode of inheritance for gene: SNAI2 was set to Unknown