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  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

Amber DEPDC5 in Malformations of cortical development

Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 2.94
Latest signed off version: v2.2 (25 Feb 2020)

Component of the following Super Panels:

  • Cerebral malformations

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • Expert list
    Phenotypes
    • Epilepsy, familial focal, with variable foci 1, OMIM:604364
    • Focal cortical dysplasia
    Tags
    • Q3_21_rating

    Red DEPDC5 in Fetal anomalies


    Version 1.749
    Latest signed off version: v1.92 (21 Aug 2020)

    		review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Red
    • PAGE DD-Gene2Phenotype
    Phenotypes
    • FAMILIAL FOCAL EPILEPSY WITH VARIABLE FOCI

    Green DEPDC5 in DDG2P


    Version 2.50
    Latest signed off version: v2.2 (13 Feb 2020)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • FAMILIAL FOCAL EPILEPSY WITH VARIABLE FOCI 604364

    Green DEPDC5 in Genetic epilepsy syndromes

    Level 3: Inherited Epilepsy Syndromes
    Level 2: Neurology and neurodevelopmental disorders
    Version 2.450
    Latest signed off version: v2.2 (13 Feb 2020)

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Wessex and West Midlands GLH
    • NHS GMS
    • NIHRBR-RD Consortium SPEED_v3.0_20170404
    • Victorian Clinical Genetics Services
    • Expert Review Green
    • Expert
    Phenotypes
    • Epilepsy, familial focal, with variable foci 1, OMIM:604364

    Green DEPDC5 in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.1394
    Latest signed off version: v3.2 (13 Feb 2020)

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    Phenotypes
    • Epilepsy, familial focal, with variable foci 1, OMIM:604364

    Green DEPDC5 in Severe Paediatric Disorders


    Version 1.84

    		review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Epilepsy, familial focal, with variable foci 1, 604364