AKT1

AKT serine/threonine kinase 1
OMIM: 164730, Gene2Phenotype

9 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 9 panels
Amber AKT1 in Macrocephaly_Megalencephaly Level 2: Dysmorphic and congenital abnormality syndromes Version 0.140	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Cowden syndrome 6, MIM#615109
Green AKT1 in Mendeliome Version 1.1902	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Cowden syndrome 6, MIM#615109 Proteus syndrome, MIM#176920 Tags somatic
Green AKT1 in Genetic Epilepsy Level 2: Neurology and neurodevelopmental disorders Version 1.33 Component of the following Super Panels: Progressive Neurological Conditions	review	Other	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Proteus syndrome, somatic, MIM# 176920 Tags somatic
Red AKT1 in Skeletal dysplasia Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 0.285	review	Unknown	Sources Expert Review Green NHS GMS Expert Review Red Victorian Clinical Genetics Services Phenotypes Cowden syndrome 6 615109 Proteus syndrome, somatic 176920
Red AKT1 in Vascular Malformations_Germline Level 2: Cardiovascular disorders Version 1.11 Component of the following Super Panels: Vascular Malformations SuperPanel	review	Other	Sources Expert Review Red Expert list Phenotypes Proteus syndrome, somatic 176920 Cowden syndrome 6 615109 Tags somatic
Red AKT1 in NCGC Version 0.2	review	Other	Sources NCGC Phenotypes NA
Green AKT1 in Vascular Malformations_Somatic Level 2: Cardiovascular disorders Version 1.13 Component of the following Super Panels: Vascular Malformations SuperPanel	review	Other	Sources Expert Review Green Expert list Expert list Phenotypes Cowden syndrome 6 615109 Proteus syndrome, somatic 176920 Tags somatic
Green AKT1 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 Genomics England PanelApp NHS GMS Phenotypes Proteus syndrome, somatic 176920 Tags somatic
Green AKT1 in Fetal anomalies Version 1.255	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Phenotypes Cowden syndrome 6, MIM#615109 Proteus syndrome, somatic, MIM# 176920