Cerebral Palsy
Gene: PIK3CAEnsemblGeneIds (GRCh38): ENSG00000121879
EnsemblGeneIds (GRCh37): ENSG00000121879
OMIM: 171834, Gene2Phenotype
PIK3CA is in 21 panels
1 review
Clare van Eyk (University of Adelaide)
Single individual with novel de novo in-frame deletion reported in a monocentric cohort study (PMID: 39213953). Clinically hypotonia, hyperlaxity, bilateral polymicrogyria, incomplete inversion hippocampi, prominent cerebellum.
Sources: LiteratureCreated: 2 Sep 2024, 7:25 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Megalencephaly-capillary malformation-polymicrogyria syndrome, somatic, MIM#602501
Publications
- PMID: 39213953
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Red
- Phenotypes
-
- Megalencephaly-capillary malformation-polymicrogyria syndrome, somatic, MIM#602501
- OMIM
- 171834
- Clinvar variants
- Variants in PIK3CA
- Penetrance
- None
- Publications
-
- PMID: 39213953
- Panels with this gene
-
- Overgrowth
- Polydactyly
- Incidentalome_PREGEN_DRAFT
- BabyScreen+ newborn screening
- Hydrops fetalis
- Intellectual disability syndromic and non-syndromic
- Genetic Epilepsy
- Cancer Predisposition_Paediatric
- Hydrocephalus_Ventriculomegaly
- Vascular Malformations_Germline
- Macrocephaly_Megalencephaly
- Vascular Malformations_Somatic
- Skeletal dysplasia
- Fetal anomalies
- Mosaic skin disorders
- Mendeliome
- Polymicrogyria and Schizencephaly
- Cerebral vascular malformations
- Callosome
- Wilms Tumour
- Cerebral Palsy
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: pik3ca has been classified as Red List (Low Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: pik3ca has been classified as Red List (Low Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: pik3ca has been classified as Red List (Low Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Clare van Eyk (University of Adelaide)gene: PIK3CA was added gene: PIK3CA was added to Cerebral Palsy. Sources: Literature Mode of inheritance for gene: PIK3CA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PIK3CA were set to PMID: 39213953 Phenotypes for gene: PIK3CA were set to Megalencephaly-capillary malformation-polymicrogyria syndrome, somatic, MIM#602501 Review for gene: PIK3CA was set to RED