DACT1

dishevelled binding antagonist of beta catenin 1
OMIM: 607861, ClinGen, DECIPHER

4 panels

Panel Reviews Mode of inheritance Details
4 panels

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


Level 2: Renal and urinary tract disorders
Version 1.0

3 reviews 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 2.0

2 reviews 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 2.0

1 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 1.0

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