Hydrocephalus
Gene: PIK3CA
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
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
Phenotypes for gene: PIK3CA were changed from Megalencephaly-capillary malformation-polymicrogyria syndrome, somatic 602501 to Megalencephaly-capillary malformation-polymicrogyria syndrome, somatic, OMIM:602501
Source NHS GMS was added to PIK3CA.
31.05.2017 - panel revised after internal curation and clinical review.
This gene has been classified as Green List (High Evidence).
Phenotypes for PIK3CA were set to Megalencephaly-capillary malformation-polymicrogyria syndrome, somatic 602501
Publications for PIK3CA were set to 22729224
Mode of inheritance for PIK3CA was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
This gene has been classified as Green List (High Evidence).
PIK3CA was added to Hydrocephaluspanel. Sources: Radboud University Medical Center, Nijmegen
PIK3CA was created by oniblock