Genomics England
GMS Panels
Panels
Genes and Entities

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 5.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
PROTEUS SYNDROME 176920
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 5.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
PROTEUS SYNDROME
Green
in Mosaic skin disorders - deep sequencing
R-numbers: R327
Signed-off version 2.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Proteus syndrome
Green
in Neurological segmental overgrowth
Component of the following Super Panels:
  • - Cerebral malformation
Signed-off version 3.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Proteus syndrome, somatic, OMIM:176920, Macrocephaly and Overgrowth Syndromes, Segmental Overgrowth Syndrome, Proteus syndrome
Green
in Segmental overgrowth disorders - Deep sequencing
R-numbers: R110
Signed-off version 3.3
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Proteus syndrome, 176920, Proteus syndrome, somatic,176920, Macrocephaly and Overgrowth Syndromes, Proteus syndrome, Segmental Overgrowth Syndrome