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
Number of unrelated cases in double figures. Macrocephaly a consistent feature and hydrocephalus reported in some.
Created: 9 May 2017, 1:23 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Mental retardation, autosomal dominant 35
Source NHS GMS was added to PPP2R5D.
31.05.2017 - panel revised after internal curation and clinical review.
This gene has been classified as Green List (High Evidence).
PPP2R5D was added to Hydrocephaluspanel. Source: Expert Review Green
PPP2R5D was added to Hydrocephaluspanel. Sources: Literature
PPP2R5D was created by helen.brittain