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Unexplained young onset end-stage renal disease - additional genes

Gene: SIX5

Red List (low evidence)
SIX5 (SIX homeobox 5)
EnsemblGeneIds (GRCh38): ENSG00000177045
EnsemblGeneIds (GRCh37): ENSG00000177045
OMIM: 600963, Gene2Phenotype
SIX5 is in 11 panels

7 reviews

Arina Puzriakova (Genomics England Curator)

Red List (low evidence)

Comment on list classification: As the evidence for the association of SIX5 with branchio-oto-renal syndrome is disputed, this gene should be considered for demotion to red rating in the next GMS update.
Created: 22 Oct 2025, 1:19 p.m. | Last Modified: 22 Oct 2025, 1:19 p.m.
Panel Version: 1.3
This gene-disease association has been rated as 'DISPUTED' by ClinGen (https://search.clinicalgenome.org/CCID:006145) Multiple families reported but reported variants are high in frequency in population databases, have no evidence of pathogenicity, and/or an alternate cause of disease has later been reported (21280147). Two independent SIX5 mouse models have cataracts and no ear or kidney abnormalities (10802667, 10802668) which are typical of branchio-oto-renal syndrome.
Created: 22 Oct 2025, 1:15 p.m. | Last Modified: 22 Oct 2025, 1:15 p.m.
Panel Version: 1.2
Created: 22 Oct 2025, 1:15 p.m.
Last Modified: 22 Oct 2025, 1:15 p.m.
Panel version: 1.2

Achchuthan Shanmugasundram (Genomics England Curator)

Red List (low evidence)

The rating of this gene has been updated to red following NHS Genomic Medicine Service approval.
Created: 12 Mar 2026, 10:03 a.m. | Last Modified: 12 Mar 2026, 10:03 a.m.
Panel Version: 1.6
This gene has been added to this panel with green 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, NOT imprinted

Created: 25 Sep 2024, 9:36 p.m.
Last Modified: 25 Sep 2024, 9:36 p.m.
Panel version: 1.6

Eleanor Williams (Genomics England Curator)

I don't know

Gene imported from the 'Renal and urinary tract disorders' panel v1.8 with a rating of Green
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, NOT imprinted

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

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

Bill Newman (Manchester Centre for Genomic Medicine)

Green List (high evidence)

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

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

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotype in OMIM and G2P. At least three variants reported
Created: 5 Aug 2016, 11:51 a.m.
Created: 5 Aug 2016, 11:51 a.m.

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

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Promoted from amber to green as two reviewers in agreement.
Created: 29 Mar 2016, 10:36 a.m.
Created: 29 Mar 2016, 10:36 a.m.

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

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
  • Expert Review Red
Phenotypes
  • Branchiootorenal syndrome 2, OMIM:610896
Tags
disputed
OMIM
600963
Clinvar variants
Variants in SIX5
Penetrance
None
Panels with this gene

History Filter Activity

12 Mar 2026, Gel status: 1

Removed Tag, Removed Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag Q3_25_expert_review was removed from gene: SIX5. Tag Q3_25_demote_red was removed from gene: SIX5.

12 Mar 2026, Gel status: 1

Added New Source, Added New Source, Status Update

Achchuthan Shanmugasundram (Genomics England Curator)

Source Expert Review Red was added to SIX5. Source NHS GMS was added to SIX5. Rating Changed from Green List (high evidence) to Red List (low evidence)

22 Oct 2025, Gel status: 3

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: six5 has been classified as Green List (High Evidence).

22 Oct 2025, Gel status: 3

Added Tag, Added Tag, Added Tag

Arina Puzriakova (Genomics England Curator)

Tag Q3_25_expert_review tag was added to gene: SIX5. Tag disputed tag was added to gene: SIX5. Tag Q3_25_demote_red tag was added to gene: SIX5.

28 Sep 2024, Gel status: 3

Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

Phenotypes for gene: SIX5 were changed from Branchiootorenal syndrome 2, 610896 to Branchiootorenal syndrome 2, OMIM:610896

27 Sep 2024, Gel status: 3

Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

Added phenotypes Branchiootorenal syndrome 2, 610896 for gene: SIX5

25 Sep 2024, Gel status: 3

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

Achchuthan Shanmugasundram (Genomics England Curator)

gene: SIX5 was added gene: SIX5 was added to Unexplained young onset end-stage renal disease - additional genes. Sources: Expert Review Green Mode of inheritance for gene: SIX5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: SIX5 were set to Branchiootorenal syndrome 2, 610896