Hydrocephalus
Gene: PIK3CAEnsemblGeneIds (GRCh38): ENSG00000121879
EnsemblGeneIds (GRCh37): ENSG00000121879
OMIM: 171834, Gene2Phenotype
PIK3CA is in 21 panels
2 reviews
Louise Daugherty (Genomics England Curator)
As discussed with the GMS Neurology Specialist Test Group webex call 11th July 2019: The Specialist Test Group all agreed that there is enough evidence to rate this gene GreenCreated: 29 Jul 2019, 2:49 p.m. | Last Modified: 29 Jul 2019, 2:49 p.m.
Panel Version: 1.34
Helen Brittain (Genomics England Curator)
Comment when marking as ready: D/W Richard Scott. Appropriate for inclusion despite mosaic nature.Created: 22 May 2017, 3:03 p.m.
Above PMID contains 14 individuals with PIK3CA mutations causing megalencephaly, however somatic mutations are common leading to allele frequencies varying from 11-50% and tissue variability would be expected.Created: 4 May 2017, 9:55 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Megalencephaly-capillary malformation-polymicrogyria syndrome, somatic 602501
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- NHS GMS
- Expert Review Green
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Megalencephaly-capillary malformation-polymicrogyria syndrome, somatic, OMIM:602501
- Tags
- OMIM
- 171834
- Clinvar variants
- Variants in PIK3CA
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Vascular skin disorders
- Multiple monogenic benign skin tumours
- Early onset or syndromic epilepsy
- Skeletal dysplasia
- Pigmentary skin disorders
- Genodermatoses with malignancies
- Cerebral vascular malformations
- Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders
- Malformations of cortical development
- Hydrocephalus
- Childhood solid tumours
- Familial Neural Tube Defects
- Segmental overgrowth disorders - Deep sequencing
- Intellectual disability
- Mosaic skin disorders - deep sequencing
- Inherited non-medullary thyroid cancer
- DDG2P
- Limb disorders
- Neurological segmental overgrowth
- Hereditary haemorrhagic telangiectasia
- Fetal anomalies
History Filter Activity
Set Phenotypes
Ivone Leong (Genomics England Curator)Phenotypes for gene: PIK3CA were changed from Megalencephaly-capillary malformation-polymicrogyria syndrome, somatic 602501 to Megalencephaly-capillary malformation-polymicrogyria syndrome, somatic, OMIM:602501
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to PIK3CA.
panel promoted to version 1
Ellen McDonagh (Genomics England Curator)31.05.2017 - panel revised after internal curation and clinical review.
Gene classified by Genomics England curator
Helen Brittain (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Helen Brittain (Genomics England Curator)Phenotypes for PIK3CA were set to Megalencephaly-capillary malformation-polymicrogyria syndrome, somatic 602501
Set publications
Helen Brittain (Genomics England Curator)Publications for PIK3CA were set to 22729224
Set Mode of Inheritance
Helen Brittain (Genomics England Curator)Mode of inheritance for PIK3CA was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Gene classified by Genomics England curator
Helen Brittain (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Added New Source
Olivia Niblock (Genomics England Curator)PIK3CA was added to Hydrocephaluspanel. Sources: Radboud University Medical Center, Nijmegen
Created
Olivia Niblock (Genomics England Curator)PIK3CA was created by oniblock