AKT3

AKT serine/threonine kinase 3
OMIM: 611223, Gene2Phenotype

14 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 14 panels
Green AKT3 in Hydrocephalus Version 4.4 Latest signed off version: v4.0 (22 Mar 2023)	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, OMIM:615937 Tags mosaicism somatic
Green AKT3 in Segmental overgrowth disorders - Deep sequencing Version 3.17 Latest signed off version: v3.3 (22 Mar 2023)	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, OMIM:615937 Macrocephaly and Overgrowth Syndromes Tags mosaicism
Red AKT3 in Limb disorders Version 4.19 Latest signed off version: v4.0 (22 Mar 2023) Component of the following Super Panels: Paediatric disorders	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 4.26 Latest signed off version: v4.0 (22 Mar 2023) Component of the following Super Panels: Cerebral malformation	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Radboud University Medical Center, Nijmegen UKGTN Expert Review Phenotypes Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2, OMIM:615937 Tags mosaicism
Amber AKT3 in Mosaic skin disorders - deep sequencing Version 2.47 Latest signed off version: v2.0 (30 Nov 2022)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber London North GLH NHS GMS Phenotypes Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2, OMIM:615937 Tags Q3_23_promote_green Q3_23_NHS_review
Amber AKT3 in Vascular skin disorders Version 1.63 Latest signed off version: v1.3 (15 Oct 2020)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Expert list Phenotypes Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome (615937) Tags Q3_23_promote_green
Amber AKT3 in Severe microcephaly Level 3: DNA repair disorders Level 2: Dysmorphic and congenital abnormality syndromes Version 4.68 Latest signed off version: v4.0 (22 Mar 2023)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Expert list Phenotypes Microcephaly
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 1.120	review	Other	Sources Expert Review Amber Expert list Phenotypes Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2, OMIM:615937
Green AKT3 in Fetal anomalies Version 3.157 Latest signed off version: v3.0 (22 Mar 2023)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green PAGE DD-Gene2Phenotype Phenotypes Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2, OMIM:615937 Tags mosaicism
Green AKT3 in DDG2P Version 3.87 Latest signed off version: v3.1 (22 Mar 2023) Component of the following Super Panels: Paediatric disorders	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green DD-Gene2Phenotype Phenotypes HEMIMEGALENCEPHALY AKT3 603387 Tags mosaicism
Green AKT3 in Early onset or syndromic epilepsy Level 3: Inherited Epilepsy Syndromes Level 2: Neurology and neurodevelopmental disorders Version 4.195 Latest signed off version: v4.0 (22 Mar 2023) Component of the following Super Panels: Unexplained death in infancy and sudden unexplained death in childhood	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, OMIM:615937
Green AKT3 in Intellectual disability - microarray and sequencing Level 3: Neurodevelopmental disorders Level 2: Neurology and neurodevelopmental disorders Version 5.536 Latest signed off version: v5.0 (22 Mar 2023) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	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 2, OMIM:615937 Tags mosaicism
Green AKT3 in Neurological segmental overgrowth Version 2.12 Latest signed off version: v2.6 (22 Mar 2023) Component of the following Super Panels: Cerebral malformation	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Phenotypes Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2, OMIM:615937 Macrocephaly and Overgrowth Syndromes Tags mosaicism
Green AKT3 in Severe Paediatric Disorders Version 1.184	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Next Generation Children Project Expert Review Green Expert list Phenotypes Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2, 615937