Hydrocephalus

Gene: PIK3CA

Green List (high evidence)

PIK3CA (phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha)
EnsemblGeneIds (GRCh38): ENSG00000121879
EnsemblGeneIds (GRCh37): ENSG00000121879
OMIM: 171834, Gene2Phenotype
PIK3CA is in 21 panels

2 reviews

Louise Daugherty (Genomics England Curator)

I don't know

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 Green
Created: 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)

Green List (high evidence)

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

History Filter Activity

29 Jul 2019, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to PIK3CA.

31 May 2017, Gel status: 4

panel promoted to version 1

Ellen McDonagh (Genomics England Curator)

31.05.2017 - panel revised after internal curation and clinical review.

22 May 2017, Gel status: 4

Gene classified by Genomics England curator

Helen Brittain (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

9 May 2017, Gel status: 4

Set Phenotypes

Helen Brittain (Genomics England Curator)

Phenotypes for PIK3CA were set to Megalencephaly-capillary malformation-polymicrogyria syndrome, somatic 602501

9 May 2017, Gel status: 4

Set publications

Helen Brittain (Genomics England Curator)

Publications for PIK3CA were set to 22729224

9 May 2017, Gel status: 4

Set Mode of Inheritance

Helen Brittain (Genomics England Curator)

Mode of inheritance for PIK3CA was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

9 May 2017, Gel status: 4

Gene classified by Genomics England curator

Helen Brittain (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

9 Dec 2016, Gel status: 1

Added New Source

Olivia Niblock (Genomics England Curator)

PIK3CA was added to Hydrocephaluspanel. Sources: Radboud University Medical Center, Nijmegen

9 Dec 2016, Gel status: 0

Created

Olivia Niblock (Genomics England Curator)

PIK3CA was created by oniblock