AKT3

AKT serine/threonine kinase 3
OMIM: 611223, Gene2Phenotype

13 panels

Panel Reviews Mode of inheritance Details
13 panels

Green AKT3 in Hydrocephalus


Version 2.5
Signed off v.2.3 on 2 Mar 2020

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • NHS GMS
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 615937
Tags
  • mosaicism
  • somatic

Green AKT3 in Segmental overgrowth disorders


Version 2.5
Signed off v.2.1 on 24 Feb 2020

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Emory Genetics Laboratory
  • Expert Review
Phenotypes
  • Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2, 615937
  • MPPH2
  • Macrocephaly and Overgrowth Syndromes
  • Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus syndrome 2
Tags
  • mosaicism

Red AKT3 in Limb disorders


Version 2.11
Signed off v.2.2 on 13 Feb 2020

Component of the following Super Panels:

  • Paediatric disorders
  • review Not set
    Sources
    • Expert Review Red
    • Victorian Clinical Genetics Services
    Phenotypes
    • Polydactyly
    • Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 615937

    Green AKT3 in Malformations of cortical development

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 2.7
    Signed off v.2.2 on 25 Feb 2020

    Component of the following Super Panels:

  • Cerebral malformations
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • UKGTN
    • Radboud University Medical Center, Nijmegen
    • Expert Review
    Phenotypes
    • Polymicrogyria, macrocephaly
    Tags
    • mosaicism

    No list AKT3 in Mosaic skin disorders - deep sequencing


    Version 1.3
    Signed off v.1.2 on 19 Feb 2020

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Removed
    • London North GLH
    • NHS GMS
    Phenotypes
    • Overgrowth syndrome (not always mosaic in this case)

    No list AKT3 in Vascular skin disorders


    Version 1.3
    Signed off v.1.2 on 19 Feb 2020

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert list
    Phenotypes
    • Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome (615937)

    Amber AKT3 in Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders

    Level 3: Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders
    Level 2: Growth disorders
    Version 1.94

    review Other
    Sources
    • Expert Review Amber
    • Expert list
    Phenotypes
    • Human overgrowth syndrome type
    • Overgrowth with Intellectual disability

    Green AKT3 in Fetal anomalies


    Version 1.73
    Signed off v.1.2 on 17 Feb 2020

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • PAGE DD-Gene2Phenotype
    Phenotypes
    • HEMIMEGALENCEPHALY AKT3
    Tags
    • mosaicism

    Amber AKT3 in DDG2P


    Version 2.8
    Signed off v.2.2 on 13 Feb 2020

    Component of the following Super Panels:

  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • DD-Gene2Phenotype
    • Expert Review Amber
    Phenotypes
    • HEMIMEGALENCEPHALY AKT3 603387
    Tags
    • mosaicism

    Green AKT3 in Genetic epilepsy syndromes

    Level 3: Inherited Epilepsy Syndromes
    Level 2: Neurology and neurodevelopmental disorders
    Version 2.102
    Signed off v.2.2 on 13 Feb 2020

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Wessex and West Midlands GLH
    • NHS GMS
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 615937

    Green AKT3 in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.135
    Signed off v.3.2 on 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
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome, 603387
    • HEMIMEGALENCEPHALY AKT3
    Tags
    • mosaicism

    Green AKT3 in Neurological segmental overgrowth


    Version 1.6
    Signed off v.1.4 on 4 Mar 2020

    Component of the following Super Panels:

  • Cerebral malformations
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    Phenotypes
    • Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2, 615937
    • Macrocephaly and Overgrowth Syndromes
    • MPPH2
    • Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus syndrome 2

    Green AKT3 in Severe Paediatric Disorders


    Version 1.6

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2, 615937