Gene: PPM1D Disease: PPM1D syndrome

Allelic requirement

monoallelic_autosomal

Mutation consequence summary

absent gene product


Panel Confidence category
DD definitive

Gene: PPM1D

Location
Synonyms
OMIM MIM
605100
Ensembl stable ID
ENSG00000170836
Variant information
ClinVar DECIPHER
Protein information
DECIPHER

Disease: PPM1D syndrome

Update disease information

Comments

Publications

Phenotypes

Look up phenotypes associated with PPM1D in DECIPHER

Organ specificity

  • Brain/Cognition

Edit organ specificity list:


Bone Marrow/Immune
Brain/Cognition
Cancer predisposition
Ear
Endocrine
Endocrine/Metabolic
Eye
Eye: Connective tissue
Eye: Cornea
Eye: Lens
Eye: Optic nerve
Eye: Physiology
Eye: Retina
Eye: Structure
Eye: Vasculature
Eye: Vitreous
Face
GI tract
Genitalia
Hair/Nails
Heart/Cardiovasculature/Lymphatic
Kidney Renal Tract
Liver
Lungs
Multisystem
Musculature
Peripheral nerves
Respiratory tract
Skeleton
Skin
Spinal cord/Peripheral nerves
Teeth and Dentition
breast
growth