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  2. Deafness and congenital structural abnormalities
  3. SIX1
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Deafness and congenital structural abnormalities

Gene: SIX1

Green List (high evidence)
SIX1 (SIX homeobox 1)
EnsemblGeneIds (GRCh38): ENSG00000126778
EnsemblGeneIds (GRCh37): ENSG00000126778
OMIM: 601205, Gene2Phenotype
SIX1 is in 10 panels

4 reviews

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotype in OMIM and G2P / DD. At least five variants reported in Brachiootic syndrome 3, 608389 (ClinVar)
Created: 14 Sep 2016, 8:55 a.m.
Created: 14 Sep 2016, 8:55 a.m.

Panel version: Imported from "Familial hemifacial microsomia" panel version 0.38

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Green on the Bilateral Microtia Version 1.10 panel.
Created: 12 Sep 2016, 2:46 p.m.
Created: 12 Sep 2016, 2:46 p.m.

Panel version: Imported from "Ear malformations with hearing impairment" panel version 0.66

Jun Shen (Harvard Medical School)

Red List (low evidence)

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 severe; Branchial arch defects; Preauricular pits; Preauricular fistula; Preauricular tags; Lacrimal duct stenosis; Mondini dysplasia; Widened semicircular canals; Branchial cysts; No renal findings]

Publications

Created: 9 Feb 2016, 5:16 p.m.

Panel version: Imported from "Bilateral microtia" panel version 1.0

Maria Bitner-Glindzicz (UCL)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Branchio-oto-renal syndrome

Publications

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

Created: 3 Feb 2016, 3:43 p.m.

Panel version: Imported from "Bilateral microtia" panel version 0.0

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
  • Eligibility statement prior genetic testing
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
  • Expert list
  • Eligibility statement exclusion criteria
Phenotypes
  • Bilateral Microtia
  • pre auricular pits
  • 608389
  • Deafness, autosomal dominant 23, 605192
  • Brachiootic syndrome 3, 608389
  • Hearing loss panel
  • Deafness,autosomal dominant 23, 605192
  • Non-syndromic hearing loss
  • Branchio-oto-renal syndrome
OMIM
601205
Clinvar variants
Variants in SIX1
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

26 Oct 2016, Gel status: 4

panel promoted to version 1

Ellen McDonagh (Genomics England Curator)

26th Oct 2016: the panels Bilateral microtia version 1.10, Ear malformations with hearing impairment version 0.105, and familial hemifacial microsomia version 0.149 gene panels were combined to create this panel. The panel was revised due to expert review, further curation of evidence and internal clinical evaluation. Ready for promotion to version 1.

14 Oct 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

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

14 Oct 2016, Gel status: 4

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for SIX1 were set to 18330911; 15141091;10512683; 10773454; 10777717; 11262400; 11734542; 12368906; 12843324; 14628042; 14704789; 15141091; 15226428; 16670092; 17637804; 19389353; 19726883; 19726885; 21700001; 22267199; 7720577; 8617500; 9770533

5 Oct 2016, Gel status: 4

Added New Source

Sarah Leigh (Genomics England Curator)

SIX1 was added to Deafness and congenital structural abnormalitiespanel. Source: Eligibility statement prior genetic testing SIX1 was added to Deafness and congenital structural abnormalitiespanel. Source: UKGTN SIX1 was added to Deafness and congenital structural abnormalitiespanel. Source: Emory Genetics Laboratory SIX1 was added to Deafness and congenital structural abnormalitiespanel. Source: Radboud University Medical Center, Nijmegen SIX1 was added to Deafness and congenital structural abnormalitiespanel. Source: Illumina TruGenome Clinical Sequencing Services

5 Oct 2016, Gel status: 4

Added New Source

Sarah Leigh (Genomics England Curator)

SIX1 was added to Deafness and congenital structural abnormalitiespanel. Sources: Expert list,Eligibility statement exclusion criteria,Expert Review Green

5 Oct 2016, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

SIX1 was created by sleigh