Neurological segmental overgrowth
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.
Tag mosaicism tag was added to gene: AKT3.
Phenotypes for gene: AKT3 were changed from Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2, 615937; Macrocephaly and Overgrowth Syndromes; MPPH2; Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus syndrome 2 to Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2, OMIM:615937; Macrocephaly and Overgrowth Syndromes
gene: AKT3 was added gene: AKT3 was added to Neurological segmental overgrowth. Sources: Expert Review Green Mode of inheritance for gene: AKT3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: AKT3 were set to Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2, 615937; Macrocephaly and Overgrowth Syndromes; MPPH2; Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus syndrome 2