Hearing lossGene: DACT1
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, 9:44 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
?Townes-Brocks syndrome 2,617466; TBS2
DACT1 was added to Congenital hearing impairment (profound/severe)panel. Sources: Other,Literature
DACT1 was created by LouiseD