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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

3 reviews

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
OMIM
602150
Clinvar variants
Variants in SNAI2
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

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