Bilateral microtia
Gene: SIX1

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

2 reviews

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: 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: 0.0

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green
Eligibility statement exclusion criteria
Expert list

Phenotypes

Bilateral Microtia
pre auricular pits
608389

OMIM

601205

Clinvar variants

Variants in SIX1

Penetrance

Complete

Publications

Panels with this gene