Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disordersGene: AKT2
Comment on list classification: After consultation with Genomics England clinical team who identified AKT2 in the review paper PMID:28502730 – "4 cases summarised, they all have the same missense variant, and I can’t see if any work has been done re mechanism e.g. gain of function". Advised rating as Green, although admitted "it would be borderline as a mosaic disorder and a single variant".
Sources: Expert Review
Created: 11 Dec 2019, 11:27 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Segmental overgrowth disorders
Phenotypes for gene: AKT2 were changed from Segmental overgrowth disorders to Hypoinsulinemic hypoglycemia with hemihypertrophy, OMIM:240900; Hypoinsulinemic hypoglycemia and body hemihypertrophy, MONDO:0009416
Gene: akt2 has been classified as Green List (High Evidence).
gene: AKT2 was added gene: AKT2 was added to Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders. Sources: Expert Review missense tags were added to gene: AKT2. Mode of inheritance for gene: AKT2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: AKT2 were set to 28502730 Phenotypes for gene: AKT2 were set to Segmental overgrowth disorders