Unexplained kidney failure in young people
Gene: SIX1
SIX1 (SIX homeobox 1)
EnsemblGeneIds (GRCh38): ENSG00000126778
EnsemblGeneIds (GRCh37): ENSG00000126778
OMIM: 601205, Gene2Phenotype
SIX1 is in 10 panels
EnsemblGeneIds (GRCh38): ENSG00000126778
EnsemblGeneIds (GRCh37): ENSG00000126778
OMIM: 601205, Gene2Phenotype
SIX1 is in 10 panels
0 reviews
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Red
- Illumina TruGenome Clinical Sequencing Services
- Phenotypes
-
- Branchiootorenal Spectrum Disorders
- OMIM
- 601205
- Clinvar variants
- Variants in SIX1
- 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
- DDG2P
- Monogenic hearing loss
- Intellectual disability
- Fetal anomalies
- Rare syndromic craniosynostosis or isolated multisuture synostosis
- Clefting
- CAKUT
History Filter Activity
17 Aug 2016, Gel status: 1
panel promoted to version 1
Sarah Leigh (Genomics England Curator)Promoted to version 1 17th August 2016
18 May 2016, Gel status: 1
Added New Source
Sarah Leigh (Genomics England Curator)SIX1 was added to Unexplained kidney failure in young peoplepanel. Sources: Illumina TruGenome Clinical Sequencing Services,Expert Review Red
18 May 2016, Gel status: 0
Created
Sarah Leigh (Genomics England Curator)SIX1 was created by sleigh