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Skeletal 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 4 panels

1 review

Natalie Tan (Victorian Clinical Genetics Services)

Red List (low evidence)

Webb et al. (2017) reported 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 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 (proband's mother) with scoliosis and spina bifida occulta. Neural tube defects reported in a study of human fetuses (PMID: 22610794) and a mouse model (PMID: 19701191). Listed in Decipher v10.0 for an individual with abnormalities of (i) head or neck (ii) nervous system (iii) skeletal system. Unlike the gene SALL1 that causes Townes-Brocks syndrome 1, there is no information specifically relating to DACT1 with radial dysplasia, as these were not observed in the family with ?Townes-Brocks syndrome 2 (PMID: 28054444).
Sources: NHS GMS
Created: 22 Jul 2020, 6:47 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
?Townes-Brocks syndrome 2 (OMIM #617466)

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Literature
  • Other
Phenotypes
  • ?Townes-Brocks syndrome 2,617466
  • TBS2
OMIM
607861
Clinvar variants
Variants in DACT1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

6 Oct 2022, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: dact1 has been classified as Red List (Low Evidence).

17 Dec 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: DACT1 was added gene: DACT1 was added to Skeletal dysplasia. Sources: Other,Literature Mode of inheritance for gene: DACT1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: DACT1 were set to 22610794; 19701191; 28054444 Phenotypes for gene: DACT1 were set to ?Townes-Brocks syndrome 2,617466; TBS2