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Intellectual disability syndromic and non-syndromic

Gene: TSHZ3

Amber List (moderate evidence)

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

1 review

Bryony Thompson (Royal Melbourne Hospital)

I don't know

More evidence for the gene-disease association is required
PMID: 27668656 - TSHZ3 is included in the region deleted in chromosome 19q13.11 Deletion Syndrome, which includes intellectual disability and behavioural issues, congenital anomalies of the kidney and urinary tract (CAKUT)
PMID: 34919690 - haploinsufficient mouse model leads to kidney defects
PMID: 36553458 - heterozygous frameshift variant c.119_120dup p.Pro41SerfsTer79 in a case with intellectual disability, behavioural issues, pyelocaliceal dilatation, and mild urethral stenosis.
PMID: 39420202 - 12 CAKUT patients from 9/301 (3%) families carried 5 different rare heterozygous TSHZ3 missense variants. However, 1 of the variants (p.Ser58Gly) present in 5 of the families is more common in gnomAD v4.1 than you would expect for a dominant disease including 5 homozygotes (1,408/1,612,114 alleles, 5 hom, AF=0.0008734). The authors state this is not unexpected in a condition, such as CAKUT. However, the different missense variants are inherited from unaffected parents in at least 2/9 families (there was no phenotype information available for an additional 3 parents).
Sources: Literature
Created: 9 Nov 2024, 6:32 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
congenital anomaly of kidney and urinary tract MONDO:0019719

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • congenital anomaly of kidney and urinary tract MONDO:0019719
OMIM
614119
Clinvar variants
Variants in TSHZ3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

9 Nov 2024, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: tshz3 has been classified as Amber List (Moderate Evidence).

9 Nov 2024, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: tshz3 has been classified as Amber List (Moderate Evidence).

9 Nov 2024, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: tshz3 has been classified as Amber List (Moderate Evidence).

9 Nov 2024, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

gene: TSHZ3 was added gene: TSHZ3 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature Mode of inheritance for gene: TSHZ3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: TSHZ3 were set to 27668656; 34919690; 36553458; 39420202 Phenotypes for gene: TSHZ3 were set to congenital anomaly of kidney and urinary tract MONDO:0019719 Review for gene: TSHZ3 was set to AMBER