HECW2

HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2
OMIM: 617245, Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels

Red HECW2 in Autism


Version 0.22

review Not set
Sources
  • Expert Review Red
  • SFARI

Red HECW2 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
  • HECW2

Green HECW2 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
    • Neurodevelopmental disorder with hypotonia, seizures, and absent language

    Green HECW2 in Genetic epilepsy syndromes

    Level 3: Inherited Epilepsy Syndromes
    Level 2: Neurology and neurodevelopmental disorders
    Version 2.452
    Latest signed off version: v2.2 (13 Feb 2020)

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Wessex and West Midlands GLH
    • NHS GMS
    • Victorian Clinical Genetics Services
    • Expert Review Green
    • Expert Review
    Phenotypes
    • Neurodevelopmental disorder with hypotonia, seizures, and absent language 617268

    Green HECW2 in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.1396
    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, imprinted status unknown
    Sources
    • Victorian Clinical Genetics Services
    • BRIDGE study SPEED NEURO Tier1 Gene
    • Expert Review Green
    Phenotypes
    • Neurodevelopmental disorder with hypotonia, seizures, and absent language, OMIM:617268

    Green HECW2 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
    • Neurodevelopmental disorder with hypotonia, seizures, and absent language, 617268