PanelApp
  1. Genes and Genomic Entities
  2. PPP2R5D

PPP2R5D

protein phosphatase 2 regulatory subunit B'delta
OMIM: 601646, ClinGen, DECIPHER

11 panels

Panel Reviews Mode of inheritance Details
11 panels

Green PPP2R5D in Early-onset Parkinson disease


Level 2: Neurology and neurodevelopmental disorders
Version 2.55

Component of the following Super Panels:

  • Movement Disorders Superpanel
  • Neurodegenerative disease - adult onset
  • Progressive Neurological Conditions

    		•  1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Early onset Parkinsonism
    • Houge-Janssens syndrome 1, MIM#616355

    Green PPP2R5D in Autism


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.250

    		0 reviews Unknown
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green

    Green PPP2R5D in Hydrocephalus_Ventriculomegaly


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.134

    		0 reviews Unknown
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green

    Green PPP2R5D in Macrocephaly_Megalencephaly


    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 0.161

    		1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Houge-Janssens syndrome 1, MIM#616355

    Green PPP2R5D in Mendeliome


    Version 1.4851

    		1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Houge-Janssens syndrome 1, MIM#616355

    Green PPP2R5D in Overgrowth


    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 1.21

    		2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Houge-Janssens syndrome 1, MIM#616355

    Green PPP2R5D in Genetic Epilepsy


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.414

    Component of the following Super Panels:

  • Progressive Neurological Conditions

    		•  1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Houge-Janssens syndrome 1 MIM#616355

    Green PPP2R5D in Callosome


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.593

    		0 reviews Unknown
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green

    Green PPP2R5D in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.780

    		1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Genetic Health Queensland
    Phenotypes
    • Houge-Janssens syndrome 1, MIM#616355

    Green PPP2R5D in Fetal anomalies


    Version 1.576

    		1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    • Genetic Health Queensland
    Phenotypes
    • Houge-Janssens syndrome 1, MIM#616355

    Green PPP2R5D in Speech apraxia


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.40

    		1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Literature
    • Expert List
    Phenotypes
    • Intellectual developmental disorder 35 (MIM#616355)