Hydrocephalus
Gene: PIK3R2
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: Sufficient cases and appropriate phenotype. Mutational spectrum limited to date (two missense reported, one recurrent++). See comment for details.Created: 4 May 2017, 10:05 a.m.
Comment on mode of pathogenicity: Recurrent mutation identified 1117G-A , resulting in a gly373-to-arg (G373R) de novo in all studied with evidence of germline mosaicisim (three affected sibs). Other reported mutation to date is c.1202T-C , resulting in a leu401-to-pro (L401P) substitution in the SH2 domain. Therefore only missense reported to date.Created: 4 May 2017, 10:05 a.m.
In excess of 10 patients with mutations in PIK3R2 with MPPH syndrome. Recurrent mutation identified 1117G-A , resulting in a gly373-to-arg (G373R) de novo in all studied with evidence of germline mosaicisim (three affected sibs). Other reported mutation to date is c.1202T-C , resulting in a leu401-to-pro (L401P) substitution in the SH2 domain.Created: 4 May 2017, 10:02 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 603387
Publications
Phenotypes for gene: PIK3R2 were changed from Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 603387 to Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1, OMIM:603387
Source NHS GMS was added to PIK3R2.
31.05.2017 - panel revised after internal curation and clinical review.
This gene has been classified as Green List (High Evidence).
Mode of pathogenicity for PIK3R2 was changed to Other - please provide details in the comments
Phenotypes for PIK3R2 were set to Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 603387
Publications for PIK3R2 were set to 22729224; 23745724
This gene has been classified as Green List (High Evidence).
PIK3R2 was created by oniblock
PIK3R2 was added to Hydrocephaluspanel. Sources: Radboud University Medical Center, Nijmegen