AKT1

AKT serine/threonine kinase 1
OMIM: 164730
PanelMode of inheritanceDetails
5 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
PROTEUS SYNDROME 176920
R-numbers: R21
Signed-off version 1.92
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
PROTEUS SYNDROME
R-numbers: R327
Signed-off version 1.3
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Proteus syndrome
Component of the following Super Panels:
  • - Cerebral malformations
Signed-off version 1.4
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Proteus syndrome, 176920, Proteus syndrome, somatic,176920, Macrocephaly and Overgrowth Syndromes, Segmental Overgrowth Syndrome, Proteus syndrome
R-numbers: R110
Signed-off version 2.1
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Proteus syndrome, 176920, Proteus syndrome, somatic,176920, Macrocephaly and Overgrowth Syndromes, Proteus syndrome, Segmental Overgrowth Syndrome