CAKUT
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
2 reviews
Helen Stuart (University of Manchester)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Ellen McDonagh (Genomics England Curator)
Comment on mode of inheritance: Confirmed on OMIM and G2P.Created: 22 Apr 2016, 10:39 a.m.
Comment on list classification: This is a confirmed gene for deafness, autosomal dominant type 23 (for which in one Swiss-German patient Solitary left hypodysplastic kidney and Vesicoureteral reflux is reported in OMIM), and Branchiootic syndrome.Created: 22 Apr 2016, 10:39 a.m.
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
- Fetal anomalies
- Clefting
- Rare syndromic craniosynostosis or isolated multisuture synostosis
- Intellectual disability
- CAKUT
History Filter Activity
22 Apr 2016, Gel status: 1
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for SIX1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
22 Apr 2016, Gel status: 1
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
14 Jul 2015, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)SIX1 was added to Congenital Anomaly of the Kidneys and Urinary Tract (CAKUT)panel. Sources: Illumina TruGenome Clinical Sequencing Services