Unexplained young onset end-stage renal disease - additional genes
Gene: SIX5EnsemblGeneIds (GRCh38): ENSG00000177045
EnsemblGeneIds (GRCh37): ENSG00000177045
OMIM: 600963, Gene2Phenotype
SIX5 is in 11 panels
7 reviews
Arina Puzriakova (Genomics England Curator)
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
Achchuthan Shanmugasundram (Genomics England Curator)
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
Eleanor Williams (Genomics England Curator)
Gene imported from the 'Renal and urinary tract disorders' panel v1.8 with a rating of GreenCreated: 9 Apr 2019, 11:17 a.m.
Helen Stuart (University of Manchester)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Bill Newman (Manchester Centre for Genomic Medicine)
Sarah Leigh (Genomics England Curator)
Comment when marking as ready: Associated with phenotype in OMIM and G2P. At least three variants reportedCreated: 5 Aug 2016, 11:51 a.m.
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.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Phenotypes
-
- Branchiootorenal syndrome 2, OMIM:610896
- Tags
- OMIM
- 600963
- Clinvar variants
- Variants in SIX5
- Penetrance
- None
- Panels with this gene
-
- Unexplained young onset end-stage renal disease - additional genes
- Deafness and congenital structural abnormalities
- Unexplained kidney failure in young people
- Ductal plate malformation
- DDG2P
- Monogenic hearing loss
- Intellectual disability
- Fetal anomalies
- Clefting
- Bilateral congenital or childhood onset cataracts
- CAKUT
History Filter Activity
Entity classified by Genomics England curator
Arina Puzriakova (Genomics England Curator)Gene: six5 has been classified as Green List (High Evidence).
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.
Set Phenotypes
Achchuthan Shanmugasundram (Genomics England Curator)Phenotypes for gene: SIX5 were changed from Branchiootorenal syndrome 2, 610896 to Branchiootorenal syndrome 2, OMIM:610896
Set Phenotypes
Achchuthan Shanmugasundram (Genomics England Curator)Added phenotypes Branchiootorenal syndrome 2, 610896 for gene: SIX5
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