Vascular Malformations_Germline
Gene: PIK3R2EnsemblGeneIds (GRCh38): ENSG00000105647
EnsemblGeneIds (GRCh37): ENSG00000105647
OMIM: 603157, Gene2Phenotype
PIK3R2 is in 15 panels
1 review
Bryony Thompson (Royal Melbourne Hospital)
This condition (MPPH) lacks vascular malformations as a feature of the phenotype. Two variants were identified in the blood of two postnatal cases suspected of having mosaic overgrowth syndromes, but clinical indication for testing was not provided.
Sources: Expert listCreated: 21 Jan 2020, 2:23 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 603387
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Red
- Expert list
- Phenotypes
-
- Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 603387
- OMIM
- 603157
- Clinvar variants
- Variants in PIK3R2
- Penetrance
- None
- Publications
- 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 Red List (Low Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: PIK3R2 was added gene: PIK3R2 was added to Inherited Vascular Malformations. Sources: Expert list Mode of inheritance for gene: PIK3R2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: PIK3R2 were set to 22729224; 28502725 Phenotypes for gene: PIK3R2 were set to Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 603387 Review for gene: PIK3R2 was set to RED