Renal and urinary tract disorders
Gene: DACT1EnsemblGeneIds (GRCh38): ENSG00000165617
EnsemblGeneIds (GRCh37): ENSG00000165617
OMIM: 607861, Gene2Phenotype
DACT1 is in 9 panels
1 review
Louise Daugherty (Genomics England Curator)
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
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Red
- Phenotypes
-
- ?Townes-Brocks syndrome 2,617466
- TBS2
- OMIM
- 607861
- Clinvar variants
- Variants in DACT1
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Panel promoted to version 1.0
Eleanor Williams (Genomics England Curator)Louise Daugherty: Gene added from New gene/pheno
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Added phenotypes ?Townes-Brocks syndrome 2,617466; TBS2 for gene: DACT1
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: DACT1 was added gene: DACT1 was added to Renal and urinary tract disorders. 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 19701191; 22610794; 28054444 Phenotypes for gene: DACT1 were set to ?Townes-Brocks syndrome 2,617466; TBS2