AKT3

AKT serine/threonine kinase 3
OMIM: 611223, Gene2Phenotype

11 panels

Panel Reviews Mode of inheritance Details
11 panels

Green AKT3 in Hydrocephalus


Version 2.1

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 1.8

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 1.141

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 1.171

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

No list AKT3 in Mosaic skin disorders - deep sequencing


Version 0.19

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)

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 1.92

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

Green AKT3 in Fetal anomalies


Version 0.371

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 1.176

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 1.497

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 2.1135

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 0.5

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