Deafness and congenital structural abnormalities
Gene: SIX1Comment 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.
Comment on list classification: Green on the Bilateral Microtia Version 1.10 panel.Created: 12 Sep 2016, 2:46 p.m.
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
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.
This gene has been classified as Green List (High Evidence).
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
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
SIX1 was added to Deafness and congenital structural abnormalitiespanel. Sources: Expert list,Eligibility statement exclusion criteria,Expert Review Green
SIX1 was created by sleigh