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Unexplained young onset end-stage renal disease - additional genes

Gene: DACT1

Red List (low evidence)
DACT1 (dishevelled binding antagonist of beta catenin 1)
EnsemblGeneIds (GRCh38): ENSG00000165617
EnsemblGeneIds (GRCh37): ENSG00000165617
OMIM: 607861, Gene2Phenotype
DACT1 is in 9 panels

3 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

Louise Daugherty (Genomics England Curator)

Red List (low evidence)

Gene added from New gene/phenotype relationship(s) cataloged in OMIM. In PMID: 28054444 Webb et al. (2017) 6 affected members of a 3-generation family with Townes-Brocks syndrome-2, identified heterozygosity for a nonsense mutation in the DACT1 gene that segregated fully with disease. Clinical Features include imperforate anus, rectovaginal fistula, crossed fused renal ectopia, vesicoureteral reflux, unilateral microtia, Overfolded helices and cupped ears.
Created: 17 Aug 2017, 9:41 a.m.

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

Phenotypes
Townes-Brocks syndrome 2,617466; TBS2

Publications

Created: 17 Aug 2017, 9:30 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
Phenotypes
  • Townes-Brocks syndrome 2, OMIM:617466
OMIM
607861
Clinvar variants
Variants in DACT1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

28 Sep 2024, Gel status: 1

Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

Phenotypes for gene: DACT1 were changed from TBS2; ?Townes-Brocks syndrome 2,617466 to Townes-Brocks syndrome 2, OMIM:617466

28 Sep 2024, Gel status: 1

Set publications

Achchuthan Shanmugasundram (Genomics England Curator)

Publications for gene: DACT1 were set to 19701191; 28054444; 22610794

27 Sep 2024, Gel status: 1

Set Phenotypes, Set publications

Achchuthan Shanmugasundram (Genomics England Curator)

Added phenotypes TBS2; ?Townes-Brocks syndrome 2,617466 for gene: DACT1 Publications for gene: DACT1 were updated from 28054444; 19701191; 22610794 to 19701191; 28054444; 22610794

25 Sep 2024, Gel status: 1

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

Achchuthan Shanmugasundram (Genomics England Curator)

gene: DACT1 was added gene: DACT1 was added to Unexplained young onset end-stage renal disease - additional genes. Sources: Expert Review Red Mode of inheritance for gene: DACT1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: DACT1 were set to 28054444; 19701191; 22610794 Phenotypes for gene: DACT1 were set to ?Townes-Brocks syndrome 2,617466; TBS2