CAKUT
Gene: TSHZ3
TSHZ3 (teashirt zinc finger homeobox 3)
EnsemblGeneIds (GRCh38): ENSG00000121297
EnsemblGeneIds (GRCh37): ENSG00000121297
OMIM: 614119, Gene2Phenotype
TSHZ3 is in 4 panels
EnsemblGeneIds (GRCh38): ENSG00000121297
EnsemblGeneIds (GRCh37): ENSG00000121297
OMIM: 614119, Gene2Phenotype
TSHZ3 is in 4 panels
3 reviews
Dmitrijs Rots (Children's Clinical University Hospital)
Novel study PMID: 39420202 with 12 cases + functional work from mouse available. Enough for the green rating.Created: 21 Oct 2024, 7:43 a.m. | Last Modified: 21 Oct 2024, 7:43 a.m.
Panel Version: 1.178
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
CAKUT
Publications
- PMID: 39420202
Helen Stuart (University of Manchester)
Adrian Woolf (Professor of Paediatric Scicence, Univerisity of Manchester)
Unpublished study shows heterozygous TSHZ3 whole gene or intragenic deletions in patients with renal tract malformations. In mice, published studies clearly show biallelic null mutations cause congenital hyronephrosis.Created: 22 Apr 2016, 11:41 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Red
- Expert list
- OMIM
- 614119
- Clinvar variants
- Variants in TSHZ3
- Penetrance
- Complete
- Panels with this gene
History Filter Activity
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).
22 Apr 2016, Gel status: 0
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for TSHZ3 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
14 Jul 2015, Gel status: 0
Added New Source
Ellen McDonagh (Genomics England Curator)TSHZ3 was added to Congenital Anomaly of the Kidneys and Urinary Tract (CAKUT)panel. Sources: Expert list