Mosaic skin disorders - deep sequencingGene: AKT3
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Overgrowth syndrome (not always mosaic in this case)
This gene was part of an initial gene list collated by Thomas Cullup, GOSH and Veronica Kinsler, UCL, 25.Jan.2019 on behalf of the GMS Skin Specialist Test Group. Gene Symbol submitted: AKT3; Suggested initial gene rating: Green; Evidence for inclusion: none provided; Evidence for exclusion: none provided; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none provided.
Created: 31 Jan 2019, 2:50 p.m.
Tag curated_removed tag was added to gene: AKT3.
Source Expert Review Removed was added to AKT3. Rating Changed from Green List (high evidence) to No List (delete)
Source London North GLH was added to AKT3.
gene: AKT3 was added gene: AKT3 was added to Mosaic skin disorders - deep sequencing. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: AKT3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: AKT3 were set to Overgrowth syndrome (not always mosaic in this case)