As discussed with the GMS Neurology Specialist Test Group webex call 11th July 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Amber
Created: 29 Jul 2019, 2:49 p.m. | Last Modified: 29 Jul 2019, 2:49 p.m.
Panel Version: 1.34
Rare phenotype. One case reported with hydrocephalus to date therefore watchlist re phenotype at present
Created: 9 May 2017, 1:22 p.m.
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Source NHS GMS was added to EBP.
31.05.2017 - panel revised after internal curation and clinical review.
EBP was added to Hydrocephaluspanel. Source: Expert Review Amber
EBP was added to Hydrocephaluspanel. Sources: Literature
EBP was created by helen.brittain