Genomics England
GMS Panels
Panels
Genes and Entities

AKT3

AKT serine/threonine kinase 3
OMIM: 611223
PanelMode of inheritanceDetails
7 panels
Green
in Early onset or syndromic epilepsy
Component of the following Super Panels:
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R59
Signed-off version 4.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 615937
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 3.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
HEMIMEGALENCEPHALY AKT3
Green
in Hydrocephalus
R-numbers: R86
Signed-off version 4.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2, OMIM:615937
Green
in Intellectual disability - microarray and sequencing
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 5.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome, 603387, HEMIMEGALENCEPHALY AKT3
Green
in Malformations of cortical development
Component of the following Super Panels:
  • - Cerebral malformation
Signed-off version 4.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Polymicrogyria, macrocephaly
Green
in Neurological segmental overgrowth
Component of the following Super Panels:
  • - Cerebral malformation
Signed-off version 2.6
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2, OMIM:615937, Macrocephaly and Overgrowth Syndromes
Green
in Segmental overgrowth disorders - Deep sequencing
R-numbers: R110
Signed-off version 3.3
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2, 615937, MPPH2, Macrocephaly and Overgrowth Syndromes, Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus syndrome 2