DACT1

dishevelled binding antagonist of beta catenin 1
OMIM: 607861, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Amber DACT1 in Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic


Level 2: Renal and urinary tract disorders
Version 0.138

Component of the following Super Panels:

  • Congenital abnormalities of the kidneys and urinary tract (CAKUT)_SuperPanel
  • Kidneyome_SuperPanel
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • NHS GMS
    • Expert list
    Phenotypes
    • Townes-Brocks syndrome 2, MIM#617466

    Amber DACT1 in Mendeliome


    Version 1.1891

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • NHS GMS
    Phenotypes
    • Townes-Brocks syndrome 2 (OMIM #617466)

    Red DACT1 in Radial Ray Abnormalities


    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 1.10

    Component of the following Super Panels:

  • Limb and Digital Malformations SuperPanel
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Red
    • NHS GMS
    Phenotypes
    • ?Townes-Brocks syndrome 2 (OMIM #617466)

    Red DACT1 in Skeletal dysplasia

    Level 3: Skeletal dysplasias
    Level 2: Skeletal disorders
    Version 0.285

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Red
    • NHS GMS
    • Literature
    • Other
    Phenotypes
    • ?Townes-Brocks syndrome 2,617466
    • TBS2