Cerebral Palsy
Gene: AKT3EnsemblGeneIds (GRCh38): ENSG00000117020
EnsemblGeneIds (GRCh37): ENSG00000117020
OMIM: 611223, Gene2Phenotype
AKT3 is in 18 panels
2 reviews
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2, MIM# 615937
Luisa Weiss (University of Adelaide)
Two individual patients with CP and an AKT3 mutation have been published. In one of them (PMID 34354878) CP might be caused by birth asphyxia and is not be related to the AKT3 mutation. Additionally, there is functional data supporting the hypothesis that AKT3 might be a causative gene (PMID 32989326).
PMID 34354878: One patient described as presenting with MPPH and having a mutation in AKT3, while the mutation itself is not named (unknown whether LoF or missense, de novo or inherited). CP is listed as a coexisting feature in this patient which was caused by birth asphyxia due to umbilical cord strangulation around his neck.
30542205: One additional case with atypical CP (atypical due to major brain malformations and progressive neurologic disease) and a de novo missense mutation
Sources: LiteratureCreated: 22 May 2023, 4:20 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Red
- Phenotypes
-
- Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2, MIM# 615937
- OMIM
- 611223
- Clinvar variants
- Variants in AKT3
- Penetrance
- None
- Publications
- Panels with this gene
-
- Polydactyly
- Tuberous Sclerosis_Focal Cortical Dysplasia_Hemimegalencephaly
- Microcephaly
- BabyScreen+ newborn screening
- Hydrops fetalis
- Intellectual disability syndromic and non-syndromic
- Genetic Epilepsy
- Hydrocephalus_Ventriculomegaly
- Vascular Malformations_Germline
- Macrocephaly_Megalencephaly
- Vascular Malformations_Somatic
- Fetal anomalies
- Additional findings_Paediatric
- Mosaic skin disorders
- Mendeliome
- Polymicrogyria and Schizencephaly
- Callosome
- Cerebral Palsy
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: akt3 has been classified as Red List (Low Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: AKT3 were changed from to Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2, MIM# 615937
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: akt3 has been classified as Red List (Low Evidence).
Created, Added New Source, Set mode of inheritance, Set publications
Luisa Weiss (University of Adelaide)gene: AKT3 was added gene: AKT3 was added to Cerebral Palsy. Sources: Literature Mode of inheritance for gene: AKT3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: AKT3 were set to 34354878; 30542205; 32989326 Review for gene: AKT3 was set to AMBER