Segmental overgrowth disorders - Deep sequencing
Gene: AKT3Added tag to reflect mosaicism.Created: 5 May 2017, 8:34 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2, 615937; MPPH2; Macrocephaly and Overgrowth Syndromes; Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus syndrome 2
Comment when marking as ready: AKT3 rated as green based on expert review and confirmed DD gene.Created: 15 Nov 2016, 11:47 a.m.
Comment on list classification: Updated rating from Amber to Green because AKT3 in original list provided by Richard Scott.Created: 7 Nov 2016, 2:45 p.m.
Phenotypes for gene: AKT3 were changed from Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2, 615937; MPPH2; Macrocephaly and Overgrowth Syndromes; Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus syndrome 2 to Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2, OMIM:615937; Macrocephaly and Overgrowth Syndromes
28 November 2016: Reviews were assessed, and panel was revised according to expert review and additional curation.
This gene has been classified as Green List (High Evidence).
Mode of inheritance for AKT3 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
AKT3 was added to Regional overgrowth disorderspanel. Sources: Radboud University Medical Center, Nijmegen
This gene has been classified as Green List (High Evidence).
AKT3 was added to Regional overgrowth disorderspanel. Source: UKGTN
AKT3 was added to Regional overgrowth disorderspanel. Source: Emory Genetics Laboratory
AKT3 was added to Regional overgrowth disorderspanel. Sources: Expert Review
AKT3 was created by rfoulger