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Hearing loss

Gene: SNAI2

Green List (high evidence)

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

5 reviews

Eleanor Williams (Genomics England Curator)

I don't know

Comment on list classification: Leaving this gene as green for now, but it should be reviewed by the GMS due to the fact that only two cases have been reported of homozygous deletions in patients with Waardenburg syndrome, type 2D. Those reported with heterozygous variants either have no hearing loss or the variants have an allele frequency > 0.001 in the ExAC_EAS database.
Created: 4 Nov 2020, 2:24 p.m. | Last Modified: 4 Nov 2020, 2:24 p.m.
Panel Version: 2.102
Associated with Waardenburg syndrome, type 2D #608890 (AR) in OMIM, and Waardenburg syndrome (MONDO_0018094) in ClinGen (limited, assessed in 2017). This syndrome is characterized by deafness and pigmentary abnormalities.
SNAI2 is also know has SLUG.

Some reports of heterozygous variants associated with piebaldism (PMID: 12955764, PMID: 24443330) but no hearing loss.

PMID: 30936914 - Li et al 2019 - screened 90 patients with WS by NGS and found 2 patients with WS type 2 with de novo SNAI2 variants (c.230C>G, p. S77C and c.365C>T, p.A122V), however these variants were found at a frequency >1/10000 in the Exac population database (0.0045 and 0.0015 respectively). Presume these variants are heterozygous as they are de novo.

PMID: 12444107 - Sanchez-Martin et al 2002 - screened 38 unrelated patients with features of WS for SLUG genomic rearrangements, deletions or point mutations and found two unrelated (Bangladeshi and Dutch origin) patients with WS2 that have homozygous deletions spanning the entire SLUG coding region.
Created: 4 Nov 2020, 2:10 p.m. | Last Modified: 4 Nov 2020, 2:16 p.m.
Panel Version: 2.101

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Waardenburg syndrome, type 2D; Waardenburg syndrome type 2 MONDO_0019517

Publications

Zornitza Stark (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: 29 Jan 2020, 7 a.m. | Last Modified: 29 Jan 2020, 7 a.m.
Panel Version: 2.4

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Waardenburg syndrome, type 2D, MIM# 608890

Publications

Jun Shen (Harvard Medical School)

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
#172800:Piebaldism[Piebaldism; White forelock; Absent pigmentation of medial forehead, eyebrows and chin; Absent pigmentation of ventral chest, abdomen and limbs; Hyperpigmented borders of unpigmented areas; Heterochromia iridis; Frequent epitheliomas; Occasional deafness; Rare Hirschsprung disease]; #608890:Waardenburg syndrome, type 2D[Congenital sensorineural deafness; Dystopia canthorum absentHeterochromia iridis]

Publications

Damian Smedley (Genomics England Curator)

Comment on list classification: Good evidence from expert reviewer and OMIM
Created: 31 Jan 2016, 7:58 p.m.

Maria Bitner-Glindzicz (UCL)

Green List (high evidence)

Good evidence for causing Waardenburg syndrome (rare cause) and the diagnosis could be missed so put on green list.
Created: 19 Oct 2015, 6:10 p.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Waardenburg syndrome, type 2D, 608890
  • Piebaldism, 172800
Tags
for-review
OMIM
602150
Clinvar variants
Variants in SNAI2
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

4 Nov 2020, Gel status: 3

Added Tag

Eleanor Williams (Genomics England Curator)

Tag for-review tag was added to gene: SNAI2.

4 Nov 2020, Gel status: 3

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

Gene: snai2 has been classified as Green List (High Evidence).

22 Feb 2016, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for SNAI2 were set to Waardenburg syndrome, type 2D, 608890; Piebaldism, 172800

22 Feb 2016, Gel status: 4

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for SNAI2 were set to PMID: 10518215; 12149208; 12444107; 12955764; 15691760; 16142232; 16286009; 17905753; 21512031; 24443330; 26331542; 7513443; 9182671; 9337409; 9721220

1 Feb 2016, Gel status: 4

Set Mode of Inheritance

Damian Smedley (Genomics England Curator)

Mode of inheritance for SNAI2 was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

31 Jan 2016, Gel status: 4

Gene classified by Genomics England curator

Damian Smedley (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

31 Jan 2016, Gel status: 4

Gene classified by Genomics England curator

Damian Smedley (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

24 Jun 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

SNAI2 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: UKGTN,Radboud University Medical Center, Nijmegen,Expert

24 Jun 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

SNAI2 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: UKGTN,Radboud University Medical Center, Nijmegen,Expert

24 Jun 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

SNAI2 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: UKGTN,Radboud University Medical Center, Nijmegen,Expert