Bilateral microtia
Gene: SIX1
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
This gene has been classified as Green List (High Evidence).
Phenotypes for SIX1 were set to Bilateral Microtia; pre auricular pits; 608389
Publications for SIX1 were set to 18330911; 15141091
Mode of inheritance for SIX1 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
This gene has been classified as Green List (High Evidence).
SIX1 was added to Bilateral Microtiapanel. Sources: Eligibility statement exclusion criteria
SIX1 was added to Bilateral Microtiapanel. Sources: Expert list