Panel: DD Gene: PPP2R1A Disease: INTELLECTUAL DISABILITY

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PPP2R1A

Gene symbol
PPP2R1A
OMIM MIM
Ensembl stable ID
ENSG00000105568
Synonyms
Location

INTELLECTUAL DISABILITY

Disease ontology accessions

  • Intellectual disability HP:0001249
  • mental retardation EFO:0003847

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Gene-Disease Attributes

Disease confidence
confirmed

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Allelic requirement
monoallelic
Mutation consequence summary
dominant negative

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biallelic
digenic
hemizygous
imprinted
mitochondrial
monoallelic
monoallelic (Y)
mosaic
uncertain
x-linked dominant
x-linked over-dominance

Phenotypes

Organ specificity

  • Brain/Cognition

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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 & Dentitian

Variants

The following variants are retrieved from Ensembl. We only select variants that have been annotated as pathogenic by ClinVar. For each of the variants we display the most severe consequence. If there are multiple transcripts producing the consequence, we choose the canonical transcript, otherwise we select the transcript randomly.

Location Variant name Variant source Alleles REF/ALT Most severe consequence Transcript ID Amino acid change PolyPhen prediction SIFT prediction
19:52715971 rs786205228 ClinVar C/T missense_variant ENST00000322088 P/L probably damaging deleterious
19:52715979 rs786205227 ClinVar C/T missense_variant ENST00000322088 R/W probably damaging deleterious