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Intellectual disability

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. Listed in Decipher v9.17 some cases with Intellectual disability and microcephaly.
Created: 17 Aug 2017, 9:55 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

12 Mar 2018, Gel status: 1

Panel promoted to version 2.0

Ellen McDonagh (Genomics England Curator)

12.03.2018: Due to major updates completed (Phase 1, 2 and 3), this panel was promoted to Version 2 in order to reflect the major updates since November 2017 which have resulted in reviews for 836 genes added by Genomics England Curators and the Clinical Team, 130 new Green genes added to the interpretation pipeline (from 751 to 881 Green genes), and the gene total has increased from 1879 to 1927.

17 Aug 2017, Gel status: 0

Added New Source

Louise Daugherty (Genomics England Curator)

DACT1 was added to Intellectual disabilitypanel. Sources: Literature,Other

17 Aug 2017, Gel status: 0

Created

Louise Daugherty (Genomics England Curator)

DACT1 was created by LouiseD