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Hearing loss

Gene: SIX1

Green List (high evidence)

SIX1 (SIX homeobox 1)
EnsemblGeneIds (GRCh38): ENSG00000126778
EnsemblGeneIds (GRCh37): ENSG00000126778
OMIM: 601205, Gene2Phenotype
SIX1 is in 12 panels

5 reviews

Ellen McDonagh (Genomics England Curator)

New review confirms gene status and mode of inheritance; no changes required.
Created: 1 Jun 2018, 2:44 p.m.

Lampros Mavrogiannis (Leeds Genetics Laboratory)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Maria Bitner-Glindzicz (UCL)

Green List (high evidence)

Jun Shen (Harvard Medical School)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
#605192:Deafness, autosomal dominant 23[Hearing loss, bilateral, moderate to profound (normal to mild at low frequencies, normal to profound in middle frequencies, and moderate to profound at high frequencies)Preauricular pits (in some patients); Solitary left hypodysplastic kidney (in 1 Swiss German patient); Vesicoureteral reflux (in 1 Swiss German patient)]; #608389:Brachiootic syndrome 3[Hearing loss, progressive, mild to severeBranchial arch defectsPreauricular pitsPreauricular fistulaPreauricular tags; Lacrimal duct stenosisMondini dysplasiaWidened semicircular canals; Branchial cysts; No renal findings]

Publications

Damian Smedley (Genomics England Curator)

Comment when marking as ready: Expert review and OMIM confirmed
Created: 29 Jan 2016, 4:19 p.m.

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • #605192:Deafness, autosomal dominant 23
  • #608389:Brachiootic syndrome 3
  • hearing loss
  • Nonsyndromic Hearing Loss, Dominant
OMIM
601205
Clinvar variants
Variants in SIX1
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 SIX1 were set to #605192:Deafness, autosomal dominant 23; #608389:Brachiootic syndrome 3; hearing loss; Nonsyndromic Hearing Loss, Dominant

22 Feb 2016, Gel status: 4

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for SIX1 were set to PMID:10512683; 10773454; 10777717; 11262400; 11734542; 12368906; 12843324; 14628042; 14704789; 15141091; 15226428; 16670092; 17637804; 19389353; 19726883; 19726885; 21700001; 22267199; 7720577; 8617500; 9770533

29 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: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene SIX1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

24 Jun 2015, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

SIX1 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Illumina TruGenome Clinical Sequencing Services,UKGTN,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,Expert

24 Jun 2015, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene SIX1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

24 Jun 2015, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

SIX1 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Illumina TruGenome Clinical Sequencing Services,UKGTN,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,Expert

24 Jun 2015, Gel status: 3

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene SIX1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

24 Jun 2015, Gel status: 3

Added New Source

Ellen McDonagh (Genomics England Curator)

SIX1 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Illumina TruGenome Clinical Sequencing Services,UKGTN,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,Expert

24 Jun 2015, Gel status: 2

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene SIX1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

24 Jun 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

SIX1 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Illumina TruGenome Clinical Sequencing Services,UKGTN,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,Expert

24 Jun 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

SIX1 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Illumina TruGenome Clinical Sequencing Services,UKGTN,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,Expert