Renal and urinary tract disorders
Gene: SIX5EnsemblGeneIds (GRCh38): ENSG00000177045
EnsemblGeneIds (GRCh37): ENSG00000177045
OMIM: 600963, Gene2Phenotype
SIX5 is in 11 panels
4 reviews
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, 610896
- OMIM
- 600963
- Clinvar variants
- Variants in SIX5
- Penetrance
- None
- 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
Panel promoted to version 1.0
Eleanor Williams (Genomics England Curator)Ellen McDonagh: Comment on list classification
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Added phenotypes Branchiootorenal syndrome 2, 610896 for gene: SIX5
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: SIX5 was added gene: SIX5 was added to Renal and urinary tract disorders. 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