Deafness_Isolated
Gene: SIX1

SIX1 (SIX homeobox 1)
EnsemblGeneIds (GRCh38): ENSG00000126778
EnsemblGeneIds (GRCh37): ENSG00000126778
OMIM: 601205, Gene2Phenotype
SIX1 is in 9 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

DEFINITIVE by ClinGen. Variable expressivity, some families reported with isolated deafness, however this likely represents a spectrum rather than a separate disorder.
Created: 2 Oct 2020, 10:49 a.m. | Last Modified: 2 Oct 2020, 10:49 a.m.

Panel Version: 0.555

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Deafness, autosomal dominant 23, MIM# 605192; Branchiootic syndrome 3, MIM# 608389

Publications

Created: 2 Oct 2020, 10:49 a.m.
Last Modified: 2 Oct 2020, 10:49 a.m.
Panel version: Imported from Deafness_IsolatedAndComplex panel version 0.555

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green
Victorian Clinical Genetics Services
Melbourne Genomics Health Alliance Deafness Flagship
Melbourne Genomics Health Alliance Deafness Flagship
Victorian Clinical Genetics Services

Phenotypes

Deafness, autosomal dominant 23, MIM# 605192
Brancio-otic syndrome MIM# 608389

OMIM

601205

Clinvar variants

Variants in SIX1

Penetrance

None

Publications

Panels with this gene