PRKD1

protein kinase D1
OMIM: 605435, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Green PRKD1 in Congenital Heart Defect


Level 2: Cardiovascular disorders
Version 0.418

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Congenital heart defects and ectodermal dysplasia, 617364
  • Autosomal Recessive Congenital Heart Disease

Green PRKD1 in Mendeliome


Version 1.1891

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Congenital heart defects and ectodermal dysplasia, 617364
  • Congenital heart disease, autosomal recessive

Amber PRKD1 in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 0.6063

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Genetic Health Queensland
Phenotypes
  • Congenital heart defects and ectodermal dysplasia, 617364

Green PRKD1 in Ectodermal Dysplasia


Level 2: Dermatological disorders
Version 0.86

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Congenital heart defects and ectodermal dysplasia, MIM# 617364

Green PRKD1 in Fetal anomalies


Version 1.255

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • Genetic Health Queensland
Phenotypes
  • Congenital heart defects and ectodermal dysplasia, MIM#617364