Radial dysplasia

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. One family member (probands mother) noted as having scoliosis and Spina bifida occulta. Listed in Decipher v9.17 some cases with Intellectual disability and microcephaly. Unlike the gene SALL1 that causes Townes-Brocks syndrome 1 there is no information relating specifically to DACT1 and Radial dysplasia, since thumb abnormalities were not observed in the family with Townes-Brocks syndrome 2 (PMID: 28054444).
Created: 17 Aug 2017, 12:40 p.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
  • Literature
  • Other
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

Created

Louise Daugherty (Genomics England Curator)

DACT1 was created by LouiseD

17 Aug 2017, Gel status: 0

Added New Source

Louise Daugherty (Genomics England Curator)

DACT1 was added to Radial dysplasiapanel. Sources: Other,Literature