Pigmentary skin disorders
Gene: PIK3CAEnsemblGeneIds (GRCh38): ENSG00000121879
EnsemblGeneIds (GRCh37): ENSG00000121879
OMIM: 171834, Gene2Phenotype
PIK3CA is in 21 panels
2 reviews
Tom Cullup (Great Ormond Street Hospital)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME; MCAP
Publications
Rebecca Foulger (Genomics England curator)
This gene was part of an initial gene list collated by Thomas Cullup, GOSH and Veronica Kinsler, UCL, 25.Jan.2019 on behalf of the GMS Skin Specialist Test Group. Gene Symbol submitted: PIK3CA; Suggested initial gene rating: Green; Evidence for inclusion: none provided; Evidence for exclusion: none provided; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none provided.Created: 31 Jan 2019, 11:31 a.m.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- London North GLH
- NHS GMS
- Expert Review Green
- Phenotypes
-
- MCAP
- PIK3CA-related overgrowth syndromes
- MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME
- Vascular malformations
- OMIM
- 171834
- Clinvar variants
- Variants in PIK3CA
- Penetrance
- None
- Publications
- Panels with this gene
-
- Hereditary haemorrhagic telangiectasia
- Multiple monogenic benign skin tumours
- Skeletal dysplasia
- Limb disorders
- Vascular skin disorders
- Intellectual disability
- Early onset or syndromic epilepsy
- DDG2P
- Cerebral vascular malformations
- Mosaic skin disorders - deep sequencing
- Fetal anomalies
- Pigmentary skin disorders
- Genodermatoses with malignancies
- Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders
- Hydrocephalus
- Neurological segmental overgrowth
- Segmental overgrowth disorders - Deep sequencing
- Malformations of cortical development
- Familial Neural Tube Defects
- Childhood solid tumours
- Inherited non-medullary thyroid cancer
History Filter Activity
Set Phenotypes, Set publications
Catherine Snow (Genomics England)Added phenotypes MCAP; MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME for gene: PIK3CA Publications for gene PIK3CA were changed from to 22729224
Added New Source
Rebecca Foulger (Genomics England curator)Source London North GLH was added to PIK3CA.
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Rebecca Foulger (Genomics England curator)gene: PIK3CA was added gene: PIK3CA was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: PIK3CA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: PIK3CA were set to PIK3CA-related overgrowth syndromes; Vascular malformations