Unexplained young onset end-stage renal disease
Gene: DACT1
Gene imported from the 'Renal and urinary tract disorders' panel v1.8 with a rating of RedCreated: 9 Apr 2019, 11:17 a.m.
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
gene: DACT1 was added gene: DACT1 was added to Unexplained paediatric onset end-stage renal disease. 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