Cerebral Palsy
Gene: PIK3R2EnsemblGeneIds (GRCh38): ENSG00000105647
EnsemblGeneIds (GRCh37): ENSG00000105647
OMIM: 603157, Gene2Phenotype
PIK3R2 is in 15 panels
1 review
Clare van Eyk (University of Adelaide)
Single individual with de novo heterozygous p.G373R variant described in WGS study of clinically confirmed CP (PMID: 38553553). This variant is reported multiple times in ClinVar and literature as a recurrent pathogenic activating mutation. Additional case in literature with same variant and spastic hemiplegia (PMID: 26860062). Constitutional and mosaic mutations in PIK3R2 are associated with a range of developmental brain disorders.
Sources: LiteratureCreated: 27 Jun 2024, 4:37 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1, MIM#603387
Publications
- PMID: 38553553
Mode of pathogenicity
Other
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Amber
- Phenotypes
-
- Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1, MIM#603387
- OMIM
- 603157
- Clinvar variants
- Variants in PIK3R2
- Penetrance
- None
- Publications
-
- PMID: 38553553
- Mode of Pathogenicity
- Other
- Panels with this gene
-
- Polydactyly
- Clefting disorders
- Hydrops fetalis
- Intellectual disability syndromic and non-syndromic
- Genetic Epilepsy
- Hydrocephalus_Ventriculomegaly
- Vascular Malformations_Germline
- Macrocephaly_Megalencephaly
- Fetal anomalies
- Mosaic skin disorders
- Mendeliome
- Polymicrogyria and Schizencephaly
- Callosome
- Cerebral Palsy
- Autism
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: pik3r2 has been classified as Amber List (Moderate Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: pik3r2 has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set mode of pathogenicity
Clare van Eyk (University of Adelaide)gene: PIK3R2 was added gene: PIK3R2 was added to Cerebral Palsy. Sources: Literature Mode of inheritance for gene: PIK3R2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PIK3R2 were set to PMID: 38553553 Phenotypes for gene: PIK3R2 were set to Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1, MIM#603387 Mode of pathogenicity for gene: PIK3R2 was set to Other Review for gene: PIK3R2 was set to AMBER