PanelApp
  1. Genes and Genomic Entities
  2. DEPDC5

DEPDC5

DEP domain containing 5
OMIM: 614191, Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels

Green DEPDC5 in Polymicrogyria and Schizencephaly


Level 2: Neurology and neurodevelopmental disorders
Version 0.195

Component of the following Super Panels:

  • Malformations of cortical development_Superpanel

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Neurodevelopmental disorder, DEPDC5-related, MONDO:0700092

    Green DEPDC5 in Tuberous Sclerosis_Focal Cortical Dysplasia_Hemimegalencephaly


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.48

    Component of the following Super Panels:

  • Malformations of cortical development_Superpanel

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    • Australian Genomics Health Alliance Brain Malformations Flagship
    Phenotypes
    • Epilepsy, familial focal, with variable foci 1 (MIM#604364)

    Green DEPDC5 in Mendeliome


    Version 1.2374

    		review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Epilepsy, familial focal, with variable foci 1, MIM#604364
    • Developmental and epileptic encephalopathy 111, MIM# 620504

    Green DEPDC5 in Genetic Epilepsy


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.119

    Component of the following Super Panels:

  • Progressive Neurological Conditions

    		•  review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    • Australian Genomics Health Alliance Epilepsy Flagship
    Phenotypes
    • Epilepsy, familial focal, with variable foci 1 MIM#604364
    • Developmental and epileptic encephalopathy 111, MIM# 620504

    Green DEPDC5 in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.83

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Genetic Health Queensland
    Phenotypes
    • Epilepsy, familial focal, with variable foci 1, MIM#604364

    Green DEPDC5 in Fetal anomalies


    Version 1.314

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    Phenotypes
    • Epilepsy, familial focal, with variable foci 1 MIM#604364