Renal and urinary tract disorders
Gene: SIX1

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

2 reviews

Helen Stuart (University of Manchester)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Created: 5 Nov 2017, 2:37 a.m.

Panel version: Imported from CAKUT panel version 0

Ellen McDonagh (Genomics England Curator)

Comment on mode of inheritance: Confirmed on OMIM and G2P.
Created: 22 Apr 2016, 10:39 a.m.

Comment on list classification: This is a confirmed gene for deafness, autosomal dominant type 23 (for which in one Swiss-German patient Solitary left hypodysplastic kidney and Vesicoureteral reflux is reported in OMIM), and Branchiootic syndrome.
Created: 22 Apr 2016, 10:39 a.m.

Created: 22 Apr 2016, 10:39 a.m.

Panel version: Imported from CAKUT panel version 0.73

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Sources

Expert Review Red

Phenotypes

Branchiootorenal Spectrum Disorders

OMIM

601205

Clinvar variants

Variants in SIX1

Penetrance

None

Panels with this gene

History Filter Activity

30 Jan 2019, Gel status: 1

Panel promoted to version 1.0

Eleanor Williams (Genomics England Curator)

Ellen McDonagh: Comment on list classification

20 Dec 2018, Gel status: 1

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Added phenotypes Branchiootorenal Spectrum Disorders for gene: SIX1