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  2. Renal and urinary tract disorders
  3. TSHZ3
STRs in panel
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Renal and urinary tract disorders

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

2 reviews

Helen Stuart (University of Manchester)

Red List (low evidence)

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

Panel version: Imported from CAKUT panel version 0

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Unpublished study shows heterozygous TSHZ3 whole gene or intragenic deletions in patients with renal tract malformations.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

Panel version: Imported from CAKUT panel version 0.85

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

30 Jan 2019, Gel status: 1

Panel promoted to version 1.0

Eleanor Williams (Genomics England Curator)

Adrian Woolf: Unpublished study shows hetero

20 Dec 2018, Gel status: 1

Created, Added New Source, Set mode of inheritance

Ellen McDonagh (Genomics England Curator)

gene: TSHZ3 was added gene: TSHZ3 was added to Renal and urinary tract disorders. Sources: Expert Review Red Mode of inheritance for gene: TSHZ3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown