PPM1D:Ensemblv90

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

6 panels

Panel Reviews Mode of inheritance Details
6 panels

Red PPM1D in Cerebral Palsy


Level 2: Neurology and neurodevelopmental disorders
Version 1.405

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

Green PPM1D in Mendeliome


Version 1.3802

1 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 1.508

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

Red PPM1D in NCGC


Version 0.3

0 reviews Other
Sources
  • NCGC
Phenotypes
  • NA

Red PPM1D in Fetal anomalies


Version 1.482

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

Red PPM1D in Cerebral Palsy


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

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