PPM1D

protein phosphatase, Mg2+/Mn2+ dependent 1D
OMIM: 605100, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Red PPM1D in Cerebral Palsy


Level 2: Neurology and neurodevelopmental disorders
Version 1.389

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Jansen-de Vries syndrome, MIM#617450

Green PPM1D in Mendeliome


Version 1.2374

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Jansen de Vries syndrome, MIM #617450

Green PPM1D in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 1.83

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Genetic Health Queensland
Phenotypes
  • Jansen de Vries syndrome (MIM #617450)

Red PPM1D in Fetal anomalies


Version 1.314

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Genomics England PanelApp
Phenotypes
  • Jansen de Vries syndrome (MIM #617450)