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Hearing loss

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 10 panels

1 review

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, 9:44 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
  • Other
  • Literature
Phenotypes
  • ?Townes-Brocks syndrome 2,617466
  • TBS2
OMIM
607861
Clinvar variants
Variants in DACT1
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

17 Aug 2017, Gel status: 0

Added New Source

Louise Daugherty (Genomics England Curator)

DACT1 was added to Congenital hearing impairment (profound/severe)panel. Sources: Other,Literature

17 Aug 2017, Gel status: 0

Created

Louise Daugherty (Genomics England Curator)

DACT1 was created by LouiseD