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
Phenotypes for gene: RPS6KA3 were changed from Coffin-Lowry syndrome to Coffin-Lowry syndrome, OMIM:303600
Source NHS GMS was added to RPS6KA3.
31.05.2017 - panel revised after internal curation and clinical review.
Mode of inheritance for RPS6KA3 was changed to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
This gene has been classified as Green List (High Evidence).
RPS6KA3 was added to Hydrocephaluspanel. Source: Expert Review Green
RPS6KA3 was created by helen.brittain
RPS6KA3 was added to Hydrocephaluspanel. Sources: Literature