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Unexplained young onset end-stage renal disease - additional genes

Gene: SIX1

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

4 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

Red List (low evidence)

This gene has been added to this panel with red rating as it was present in R257 Unexplained young onset end-stage renal disease panel (v5.1) with the same rating before it was made a super panel.
Created: 25 Sep 2024, 9:36 p.m. | Last Modified: 25 Sep 2024, 9:36 p.m.
Panel Version: 0.65

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

Created: 25 Sep 2024, 9:36 p.m.
Last Modified: 25 Sep 2024, 9:36 p.m.
Panel version: 0.65

Eleanor Williams (Genomics England Curator)

I don't know

Checking rating - currently red on all renal panels so keep red.
Created: 25 Sep 2019, 1:41 p.m. | Last Modified: 25 Sep 2019, 1:41 p.m.
Panel Version: 0.43
Gene imported from the 'Renal and urinary tract disorders' panel v1.8 with a rating of Red
Created: 9 Apr 2019, 11:17 a.m.
Created: 9 Apr 2019, 11:17 a.m.

Copied from panel: Unexplained young onset end-stage renal disease v5.32

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.

Copied from panel: Unexplained young onset end-stage renal disease v5.32

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.

Copied from panel: Unexplained young onset end-stage renal disease v5.32

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
Phenotypes
  • Branchiootic syndrome 3, OMIM:608389
  • Deafness, autosomal dominant 23, OMIM:605192
OMIM
601205
Clinvar variants
Variants in SIX1
Penetrance
None
Panels with this gene

History Filter Activity

28 Sep 2024, Gel status: 1

Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

Phenotypes for gene: SIX1 were changed from Branchiootorenal Spectrum Disorders to Branchiootic syndrome 3, OMIM:608389; Deafness, autosomal dominant 23, OMIM:605192

27 Sep 2024, Gel status: 1

Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

Added phenotypes Branchiootorenal Spectrum Disorders for gene: SIX1

25 Sep 2024, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

gene: SIX1 was added gene: SIX1 was added to Unexplained young onset end-stage renal disease - additional genes. Sources: Expert Review Red Mode of inheritance for gene: SIX1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: SIX1 were set to Branchiootorenal Spectrum Disorders