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  2. Unexplained young onset end-stage renal disease - additional genes
  3. TSHZ3
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Unexplained young onset end-stage renal disease - additional genes

Gene: TSHZ3

Red List (low evidence)
TSHZ3 (teashirt zinc finger homeobox 3)
EnsemblGeneIds (GRCh38): ENSG00000121297
EnsemblGeneIds (GRCh37): ENSG00000121297
OMIM: 614119, Gene2Phenotype
TSHZ3 is in 4 panels

4 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

Red List (low evidence)

This gene has been added to this panel with red rating as it was present in R257 Unexplained young onset end-stage renal disease panel (v5.1) with the same rating before it was made a super panel.
Created: 25 Sep 2024, 9:36 p.m. | Last Modified: 25 Sep 2024, 9:36 p.m.
Panel Version: 0.65

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Created: 25 Sep 2024, 9:36 p.m.
Last Modified: 25 Sep 2024, 9:36 p.m.
Panel version: 0.65

Eleanor Williams (Genomics England Curator)

I don't know

Gene imported from the 'Renal and urinary tract disorders' panel v1.8 with a rating of Red
Created: 9 Apr 2019, 11:17 a.m.
Created: 9 Apr 2019, 11:17 a.m.

Copied from panel: Unexplained young onset end-stage renal disease v5.4

Helen Stuart (University of Manchester)

Red List (low evidence)

Created: 5 Nov 2017, 2:37 a.m.

Copied from panel: Unexplained young onset end-stage renal disease v5.4

Adrian Woolf (Professor of Paediatric Scicence, Univerisity of Manchester)

Red List (low evidence)

Unpublished study shows heterozygous TSHZ3 whole gene or intragenic deletions in patients with renal tract malformations.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

Created: 22 Apr 2016, 11:41 a.m.

Copied from panel: Unexplained young onset end-stage renal disease v5.4

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
OMIM
614119
Clinvar variants
Variants in TSHZ3
Penetrance
None
Panels with this gene

History Filter Activity

25 Sep 2024, Gel status: 1

Created, Added New Source, Set mode of inheritance

Achchuthan Shanmugasundram (Genomics England Curator)

gene: TSHZ3 was added gene: TSHZ3 was added to Unexplained young onset end-stage renal disease - additional genes. Sources: Expert Review Red Mode of inheritance for gene: TSHZ3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown