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
Two families reported with this phenotype. Watchlist required.
Created: 9 May 2017, 1:22 p.m.
Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Hydranencephaly with abnormal genitalia
Source NHS GMS was added to ARX.
31.05.2017 - panel revised after internal curation and clinical review.
ARX was added to Hydrocephaluspanel. Source: Expert Review Amber
ARX was created by helen.brittain
ARX was added to Hydrocephaluspanel. Sources: Literature