Unexplained kidney failure in young people
Gene: SIX5
SIX5 (SIX homeobox 5)
EnsemblGeneIds (GRCh38): ENSG00000177045
EnsemblGeneIds (GRCh37): ENSG00000177045
OMIM: 600963, Gene2Phenotype
SIX5 is in 11 panels
EnsemblGeneIds (GRCh38): ENSG00000177045
EnsemblGeneIds (GRCh37): ENSG00000177045
OMIM: 600963, Gene2Phenotype
SIX5 is in 11 panels
2 reviews
Arina Puzriakova (Genomics England Curator)
Comment on list classification: 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.
As the evidence for the association of SIX5 with branchio-oto-renal syndrome is disputed, downgraded this gene from Green to Red.Created: 22 Oct 2025, 1:26 p.m. | Last Modified: 22 Oct 2025, 1:26 p.m.
Panel Version: 1.121
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.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Red
- Radboud University Medical Center, Nijmegen
- UKGTN
- Phenotypes
-
- Branchiootorenal syndrome 2, OMIM:610896
- OMIM
- 600963
- Clinvar variants
- Variants in SIX5
- Penetrance
- Complete
- Panels with this gene
-
- CAKUT
- Monogenic hearing loss
- Deafness and congenital structural abnormalities
- Unexplained kidney failure in young people
- Intellectual disability
- Ductal plate malformation
- Bilateral congenital or childhood onset cataracts
- Clefting
- Unexplained young onset end-stage renal disease - additional genes
- Fetal anomalies
- DDG2P
History Filter Activity
22 Oct 2025, Gel status: 1
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: SIX5 were changed from Branchiootorenal syndrome 2, 610896 to Branchiootorenal syndrome 2, OMIM:610896
22 Oct 2025, Gel status: 1
Entity classified by Genomics England curator
Arina Puzriakova (Genomics England Curator)Gene: six5 has been classified as Red List (Low Evidence).
17 Aug 2016, Gel status: 4
panel promoted to version 1
Sarah Leigh (Genomics England Curator)Promoted to version 1 17th August 2016
5 Aug 2016, Gel status: 4
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
18 May 2016, Gel status: 4
Added New Source
Sarah Leigh (Genomics England Curator)SIX5 was added to Unexplained kidney failure in young peoplepanel. Sources: UKGTN,Radboud University Medical Center, Nijmegen,Expert Review Green
18 May 2016, Gel status: 0
Created
Sarah Leigh (Genomics England Curator)SIX5 was created by sleigh