Panel: DD Gene: PPM1D Disease: PPM1D syndrome

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Gene: PPM1D

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

Genome-wide significance
Minimum P-value 2.3E-11 from testing the Meta dataset. Source

Update disease information

Gene-Disease Attributes

Disease confidence
confirmed
Allelic requirement
monoallelic
Mutation consequence summary
loss of function

Publications

Phenotypes

Look up phenotypes associated with PPM1D in Decipher

Broad-based gait Central hypotonia Feeding difficulties Intellectual disability Short attention span

Organ specificity

  • Brain/Cognition

Edit organ specificity list:


Bone Marrow/Immune
Brain/Cognition
Cancer predisposition
Ear
Endocrine
Endocrine/Metabolic
Eye
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