Clefting
Gene: SIX5EnsemblGeneIds (GRCh38): ENSG00000177045
EnsemblGeneIds (GRCh37): ENSG00000177045
OMIM: 600963, Gene2Phenotype
SIX5 is in 11 panels
2 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, 1:22 p.m. | Last Modified: 22 Oct 2025, 1:22 p.m.
Panel Version: 6.12
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, 1:21 p.m. | Last Modified: 22 Oct 2025, 1:21 p.m.
Panel Version: 6.11
Helen Brittain (Genomics England Curator)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
BRANCHIOOTORENAL SYNDROME 2; BOR2
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Green
- Phenotypes
-
- Branchiootorenal syndrome 2, OMIM:610896
- Tags
- OMIM
- 600963
- Clinvar variants
- Variants in SIX5
- Penetrance
- Complete
- 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
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: SIX5 were changed from BRANCHIOOTORENAL SYNDROME 2; BOR2 to Branchiootorenal syndrome 2, OMIM:610896
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.
panel promoted to version 1
Louise Daugherty (Genomics England Curator)Panel reviews were assessed, and panel was revised according to reviews and further curation 31st May 2017
Created
Ellen McDonagh (Genomics England Curator)SIX5 was created by ellenmcdonagh
Added New Source
Ellen McDonagh (Genomics England Curator)SIX5 was added to Cleftingpanel. Sources: Expert Review Green