Mosaic skin disorders
Gene: PIK3R2EnsemblGeneIds (GRCh38): ENSG00000105647
EnsemblGeneIds (GRCh37): ENSG00000105647
OMIM: 603157, Gene2Phenotype
PIK3R2 is in 15 panels
2 reviews
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Megalencephaly syndromes
Mathew Wallis (Tasmanian Clinical Genetics Service)
Sources: LiteratureCreated: 18 Feb 2021, 6:29 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications
- PMID: 22729224
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Phenotypes
-
- Megalencephaly syndromes
- Tags
- OMIM
- 603157
- Clinvar variants
- Variants in PIK3R2
- Penetrance
- None
- Publications
-
- PMID: 22729224
- 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
Added Tag
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Tag somatic tag was added to gene: PIK3R2.
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: pik3r2 has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: PIK3R2 were changed from to Megalencephaly syndromes
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: pik3r2 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications
Mathew Wallis (Tasmanian Clinical Genetics Service)gene: PIK3R2 was added gene: PIK3R2 was added to Mosaic skin disorders. 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: 22729224 Review for gene: PIK3R2 was set to GREEN