Vascular skin disorders

Gene: PIK3R2

Inclusion of PIK3R2 was reassessed in light of the Red review by Zornitza Stark (Australian Genomics).

Heterozygous variants in this gene cause megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome, which in some cases can be associated with cutaneous capillary malformations (PMID: 26520804; 22729224). Although the overall phenotype does seem more aligned with other clinical indications such as R87, R86, R59 and R110, it is plausible that this panel could be applied and therefore justifies maintaining the current Green rating of this gene.

Created: 25 Mar 2024, 3:40 p.m. | Last Modified: 25 Mar 2024, 3:40 p.m.

Panel Version: 1.59

Red List (low evidence)

Not convinced there is evidence of vascular malformations being part of the phenotype for this specific gene.

Created: 2 Jul 2020, 5:46 a.m. | Last Modified: 2 Jul 2020, 5:46 a.m.

Panel Version: 1.3

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1, MIM# 603387

Publications

• 22729224
• 28502725

Green List (high evidence)

Publications

• 22729224
• 23745720

Green List (high evidence)

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: PIK3R2; 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, 12:05 p.m.

Variants in this GENE are reported as part of current diagnostic practice