AKT3

AKT serine/threonine kinase 3
OMIM: 611223, Gene2Phenotype

18 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 18 panels
Green AKT3 in Polymicrogyria and Schizencephaly Level 2: Neurology and neurodevelopmental disorders Version 0.189 Component of the following Super Panels: Malformations of cortical development_Superpanel	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Brain Malformations Flagship Phenotypes Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 (MIM#615937)
Green AKT3 in Tuberous Sclerosis_Focal Cortical Dysplasia_Hemimegalencephaly Level 2: Neurology and neurodevelopmental disorders Version 0.48 Component of the following Super Panels: Malformations of cortical development_Superpanel	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Brain Malformations Flagship Phenotypes Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2, MIM# 615937
Red AKT3 in Cerebral Palsy Level 2: Neurology and neurodevelopmental disorders Version 1.356	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Phenotypes Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2, MIM# 615937
Green AKT3 in Hydrocephalus_Ventriculomegaly Level 2: Neurology and neurodevelopmental disorders Version 0.123	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 (MIM#615937)
Red AKT3 in Hydrops fetalis Level 2: Dysmorphic and congenital abnormality syndromes Version 0.313	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Expert list Phenotypes Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2, MIM# 615937
Green AKT3 in Macrocephaly_Megalencephaly Level 2: Dysmorphic and congenital abnormality syndromes Version 0.140	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 (MIM#615937)
Green AKT3 in Mendeliome Version 1.1891	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 MIM#615937
Amber AKT3 in Microcephaly Level 2: Dysmorphic and congenital abnormality syndromes Version 1.269	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Microcephaly Tags SV/CNV
Green AKT3 in Polydactyly Level 2: Dysmorphic and congenital abnormality syndromes Version 0.276 Component of the following Super Panels: Limb and Digital Malformations SuperPanel	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2, MIM# 615937
Green AKT3 in Genetic Epilepsy Level 2: Neurology and neurodevelopmental disorders Version 1.33 Component of the following Super Panels: Progressive Neurological Conditions	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 MIM#615937
Green AKT3 in Callosome Level 2: Neurology and neurodevelopmental disorders Version 0.522	review	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green AKT3 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 0.6063	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Phenotypes Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2, MIM# 615937
Green AKT3 in Vascular Malformations_Germline Level 2: Cardiovascular disorders Version 1.11 Component of the following Super Panels: Vascular Malformations SuperPanel	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Phenotypes Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome (615937)
Green AKT3 in Vascular Malformations_Somatic Level 2: Cardiovascular disorders Version 1.13 Component of the following Super Panels: Vascular Malformations SuperPanel	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Phenotypes Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 (615937)
Red AKT3 in Additional findings_Paediatric Level 2: Screening Version 0.278	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red BabySeq Category C gene Phenotypes Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome
Green AKT3 in Mosaic skin disorders Level 2: Dermatological disorders Version 1.12 Component of the following Super Panels: Vascular Malformations SuperPanel	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Megalencephaly syndromes Tags somatic
Green AKT3 in Fetal anomalies Version 1.255	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Genomics England PanelApp Expert Review Red Expert list Phenotypes Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 (MIM#615937)
Red AKT3 in BabyScreen+ newborn screening Level 2: Screening Version 1.113	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome